CRUM1_HUMAN
ID CRUM1_HUMAN Reviewed; 1406 AA.
AC P82279; A2A308; B7Z5T2; B9EG71; Q5K3A6; Q5TC28; Q5VUT1; Q6N027; Q8WWY0;
AC Q8WWY1;
DT 18-OCT-2001, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 210.
DE RecName: Full=Protein crumbs homolog 1 {ECO:0000305};
DE Flags: Precursor;
GN Name=CRB1 {ECO:0000312|HGNC:HGNC:2343};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS RP12 VAL-161; TRP-250;
RP MET-745; CYS-764; TYR-948; THR-1041 AND PRO-1071.
RC TISSUE=Fetal brain, and Retina;
RX PubMed=10508521; DOI=10.1038/13848;
RA den Hollander A.I., ten Brink J.B., de Kok Y.J.M., van Soest S.,
RA van den Born L.I., van Driel M.A., van de Pol D.J.R., Payne A.M.,
RA Bhattacharya S.S., Kellner U., Hoyng C.B., Westerveld A., Brunner H.G.,
RA Bleeker-Wagemakers E.M., Deutman A.F., Heckenlively J.R., Cremers F.P.M.,
RA Bergen A.A.B.;
RT "Mutations in a human homologue of Drosophila crumbs cause retinitis
RT pigmentosa (RP12).";
RL Nat. Genet. 23:217-221(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=11734541; DOI=10.1093/hmg/10.24.2767;
RA den Hollander A.I., Johnson K., de Kok Y.J.M., Klebes A., Brunner H.G.,
RA Knust E., Cremers F.P.M.;
RT "CRB1 has a cytoplasmic domain that is functionally conserved between human
RT and Drosophila.";
RL Hum. Mol. Genet. 10:2767-2773(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), IDENTIFICATION IN COMPLEX WITH MPP4
RP AND PALS1, TISSUE SPECIFICITY, AND GLYCOSYLATION.
RC TISSUE=Retina;
RX PubMed=15914641; DOI=10.1167/iovs.04-1417;
RA Kantardzhieva A., Gosens I., Alexeeva S., Punte I.M., Versteeg I.,
RA Krieger E., Neefjes-Mol C.A., den Hollander A.I., Letteboer S.J.F.,
RA Klooster J., Cremers F.P.M., Roepman R., Wijnholds J.;
RT "MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.";
RL Invest. Ophthalmol. Vis. Sci. 46:2192-2201(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Retina;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Cerebellum;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP INVOLVEMENT IN LCA8.
RX PubMed=12567265; DOI=10.1076/opge.23.4.225.13879;
RA Gerber S., Perrault I., Hanein S., Shalev S., Zlotogora J., Barbet F.,
RA Ducroq D., Dufier J.-L., Munnich A., Rozet J., Kaplan J.;
RT "A novel mutation disrupting the cytoplasmic domain of CRB1 in a large
RT consanguineous family of Palestinian origin affected with Leber congenital
RT amaurosis.";
RL Ophthalmic Genet. 23:225-235(2002).
RN [10]
RP IDENTIFICATION IN COMPLEX WITH PALS1 AND EPB41L5, INTERACTION WITH PALS1
RP AND EPB41L5, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF 1377-GLY--TYR-1379 AND
RP 1403-GLU--ILE-1406.
RX PubMed=17920587; DOI=10.1016/j.yexcr.2007.08.025;
RA Gosens I., Sessa A., den Hollander A.I., Letteboer S.J.F., Belloni V.,
RA Arends M.L., Le Bivic A., Cremers F.P.M., Broccoli V., Roepman R.;
RT "FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity
RT complex.";
RL Exp. Cell Res. 313:3959-3970(2007).
RN [11]
RP VARIANTS LCA8 TYR-948 AND ARG-1100, VARIANTS RP12 CYS-433; CYS-764;
RP HIS-837; TYR-948; ARG-1181 AND THR-1354, AND VARIANTS MET-289; MET-821;
RP SER-894 AND HIS-1331.
RX PubMed=11389483; DOI=10.1086/321263;
RA den Hollander A.I., Heckenlively J.R., van den Born L.I., de Kok Y.J.M.,
RA van der Velde-Visser S.D., Kellner U., Jurklies B., van Schooneveld M.J.,
RA Blankenagel A., Rohrschneider K., Wissinger B., Cruysberg J.R.M.,
RA Deutman A.F., Brunner H.G., Apfelstedt-Sylla E., Hoyng C.B.,
RA Cremers F.P.M.;
RT "Leber congenital amaurosis and retinitis pigmentosa with Coats-like
RT exudative vasculopathy are associated with mutations in the crumbs
RT homologue 1 (CRB1) gene.";
RL Am. J. Hum. Genet. 69:198-203(2001).
RN [12]
RP ERRATUM OF PUBMED:11389483.
RA den Hollander A.I., Heckenlively J.R., van den Born L.I., de Kok Y.J.M.,
RA van der Velde-Visser S.D., Kellner U., Jurklies B., van Schooneveld M.J.,
RA Blankenagel A., Rohrschneider K., Wissinger B., Cruysberg J.R.M.,
RA Deutman A.F., Brunner H.G., Apfelstedt-Sylla E., Hoyng C.B.,
RA Cremers F.P.M.;
RL Am. J. Hum. Genet. 69:1160-1160(2001).
RN [13]
RP VARIANTS LCA8 VAL-144; TYR-383; GLY-480; ARG-480; TYR-681; CYS-764;
RP TYR-948; ARG-1205 AND HIS-1317, AND VARIANTS MET-289; GLN-769 AND HIS-1331.
RX PubMed=11231775; DOI=10.1001/archopht.119.3.415;
RA Lotery A.J., Jacobson S.G., Fishman G.A., Weleber R.G., Fulton A.B.,
RA Namperumalsamy P., Heon E., Levin A.V., Grover S., Rosenow J.R., Kopp K.K.,
RA Sheffield V.C., Stone E.M.;
RT "Mutations in the CRB1 gene cause Leber congenital amaurosis.";
RL Arch. Ophthalmol. 119:415-420(2001).
RN [14]
RP VARIANT RP12 SER-1321.
RX PubMed=11559858; DOI=10.1076/opge.22.3.163.2222;
RA Lotery A.J., Malik A., Shami S.A., Sindhi M., Chohan B., Maqbool C.,
RA Moore P.A., Denton M.J., Stone E.M.;
RT "CRB1 mutations may result in retinitis pigmentosa without para-arteriolar
RT RPE preservation.";
RL Ophthalmic Genet. 22:163-169(2001).
RN [15]
RP VARIANTS RP12 ARG-846 AND PRO-1071, AND VARIANT LCA8 THR-989.
RX PubMed=12573663; DOI=10.1016/s0014-4835(02)00304-4;
RA Khaliq S., Abid A., Hameed A., Anwar K., Mohyuddin A., Azmat Z.,
RA Shami S.A., Ismail M., Mehdi S.Q.;
RT "Mutation screening of Pakistani families with congenital eye disorders.";
RL Exp. Eye Res. 76:343-348(2003).
RN [16]
RP VARIANTS LCA8 SER-749 DEL; CYS-764; TYR-948 AND PHE-1218.
RX PubMed=12700176; DOI=10.1093/hmg/ddg117;
RA Jacobson S.G., Cideciyan A.V., Aleman T.S., Pianta M.J., Sumaroka A.,
RA Schwartz S.B., Smilko E.E., Milam A.H., Sheffield V.C., Stone E.M.;
RT "Crumbs homolog 1 (CRB1) mutations result in a thick human retina with
RT abnormal lamination.";
RL Hum. Mol. Genet. 12:1073-1078(2003).
RN [17]
RP VARIANTS RP12 SER-749 DEL; GLY-891; TYR-948; LEU-962 DEL AND THR-1100,
RP VARIANT LCA8 THR-205, AND VARIANTS MET-289; GLU-679; HIS-769 AND HIS-1331.
RX PubMed=12843338; DOI=10.1136/jmg.40.7.e89;
RA Bernal S., Calaf M., Garcia-Hoyos M., Garcia-Sandoval B., Rosell J.,
RA Adan A., Ayuso C., Baiget M.;
RT "Study of the involvement of the RGR, CRPB1, and CRB1 genes in the
RT pathogenesis of autosomal recessive retinitis pigmentosa.";
RL J. Med. Genet. 40:E89-E89(2003).
RN [18]
RP VARIANTS LCA8 TYR-584; GLN-710; THR-741; MET-745; CYS-764; THR-852;
RP TYR-948; ILE-1025; ARG-1103; ARG-1107; PRO-1107 AND SER-1321.
RX PubMed=15024725; DOI=10.1002/humu.20010;
RA Hanein S., Perrault I., Gerber S., Tanguy G., Barbet F., Ducroq D.,
RA Calvas P., Dollfus H., Hamel C., Lopponen T., Munier F., Santos L.,
RA Shalev S., Zafeiriou D., Dufier J.-L., Munnich A., Rozet J.-M., Kaplan J.;
RT "Leber congenital amaurosis: comprehensive survey of the genetic
RT heterogeneity, refinement of the clinical definition, and genotype-
RT phenotype correlations as a strategy for molecular diagnosis.";
RL Hum. Mutat. 23:306-317(2004).
RN [19]
RP VARIANTS RP12 PHE-195; GLU-578; TYR-587; MET-745; CYS-764; THR-836;
RP SER-850; TYR-948; SER-959; ILE-986; THR-1100 AND HIS-1383, VARIANT LCA8
RP THR-205, AND VARIANT GLN-905.
RX PubMed=15459956; DOI=10.1002/humu.20093;
RA den Hollander A.I., Davis J., van der Velde-Visser S.D., Zonneveld M.N.,
RA Pierrottet C.O., Koenekoop R.K., Kellner U., van den Born L.I.,
RA Heckenlively J.R., Hoyng C.B., Handford P.A., Roepman R., Cremers F.P.M.;
RT "CRB1 mutation spectrum in inherited retinal dystrophies.";
RL Hum. Mutat. 24:355-369(2004).
RN [20]
RP VARIANT PPCRA MET-162.
RX PubMed=15623792; DOI=10.1167/iovs.04-0734;
RA McKay G.J., Clarke S., Davis J.A., Simpson D.A., Silvestri G.;
RT "Pigmented paravenous chorioretinal atrophy is associated with a mutation
RT within the crumbs homolog 1 (CRB1) gene.";
RL Invest. Ophthalmol. Vis. Sci. 46:322-328(2005).
RN [21]
RP VARIANTS LCA8 PRO-753; CYS-764 AND TYR-948.
RX PubMed=15691574; DOI=10.1016/j.ophtha.2004.08.023;
RA Galvin J.A., Fishman G.A., Stone E.M., Koenekoop R.K.;
RT "Clinical phenotypes in carriers of Leber congenital amaurosis mutations.";
RL Ophthalmology 112:349-356(2005).
RN [22]
RP VARIANTS LCA8 ARG-480; TYR-681; PRO-753; CYS-764 AND TYR-948, AND VARIANT
RP SER-488.
RX PubMed=16205573; DOI=10.1097/00006982-200510000-00016;
RA Galvin J.A., Fishman G.A., Stone E.M., Koenekoop R.K.;
RT "Evaluation of genotype-phenotype associations in Leber congenital
RT amaurosis.";
RL Retina 25:919-929(2005).
RN [23]
RP VARIANT LCA8 TYR-564.
RX PubMed=17128490;
RA Vallespin E., Riveiro-Alvarez R., Aguirre-Lamban J., Cantalapiedra D.,
RA Tapias I., Garcia-Sandoval B., Trujillo-Tiebas M.J., Ayuso C.;
RT "Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.";
RL Hum. Genet. 119:681-681(2006).
RN [24]
RP VARIANT LCA8 ARG-454.
RX PubMed=16936081; DOI=10.1167/iovs.05-1637;
RA Yzer S., Fishman G.A., Racine J., Al-Zuhaibi S., Chakor H., Dorfman A.,
RA Szlyk J., Lachapelle P., van den Born L.I., Allikmets R., Lopez I.,
RA Cremers F.P., Koenekoop R.K.;
RT "CRB1 heterozygotes with regional retinal dysfunction: implications for
RT genetic testing of Leber congenital amaurosis.";
RL Invest. Ophthalmol. Vis. Sci. 47:3736-3744(2006).
RN [25]
RP VARIANT [LARGE SCALE ANALYSIS] MET-745.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [26]
RP VARIANT LCA8 PRO-535.
RX PubMed=17438615;
RA Vallespin E., Millan J.M., Riveiro-Alvarez R., Aguirre-Lamban J.,
RA Cantalapiedra D., Gallego J., Trujillo-Tiebas M.J., Ayuso C.;
RT "Gene symbol: CRB1.";
RL Hum. Genet. 120:914-914(2007).
RN [27]
RP VARIANTS LCA8 TYR-438; MET-745; THR-852 AND ARG-1103, AND VARIANT MET-289.
RX PubMed=17724218; DOI=10.1167/iovs.07-0068;
RA Simonelli F., Ziviello C., Testa F., Rossi S., Fazzi E., Bianchi P.E.,
RA Fossarello M., Signorini S., Bertone C., Galantuomo S., Brancati F.,
RA Valente E.M., Ciccodicola A., Rinaldi E., Auricchio A., Banfi S.;
RT "Clinical and molecular genetics of Leber's congenital amaurosis: a
RT multicenter study of Italian patients.";
RL Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007).
RN [28]
RP VARIANTS LCA8 TYR-939; TYR-948 AND PHE-1332.
RX PubMed=18055821; DOI=10.1167/iovs.07-0610;
RA den Hollander A.I., Lopez I., Yzer S., Zonneveld M.N., Janssen I.M.,
RA Strom T.M., Hehir-Kwa J.Y., Veltman J.A., Arends M.L., Meitinger T.,
RA Musarella M.A., van den Born L.I., Fishman G.A., Maumenee I.H.,
RA Rohrschneider K., Cremers F.P., Koenekoop R.K.;
RT "Identification of novel mutations in patients with Leber congenital
RT amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP
RT microarrays.";
RL Invest. Ophthalmol. Vis. Sci. 48:5690-5698(2007).
RN [29]
RP VARIANTS LCA8 ASP-333 AND THR-937, AND VARIANT HIS-769.
RX PubMed=18682808;
RA Seong M.W., Kim S.Y., Yu Y.S., Hwang J.M., Kim J.Y., Park S.S.;
RT "Molecular characterization of Leber congenital amaurosis in Koreans.";
RL Mol. Vis. 14:1429-1436(2008).
RN [30]
RP VARIANT RP12 ARG-1103.
RX PubMed=19140180; DOI=10.1002/ajmg.a.32634;
RA Benayoun L., Spiegel R., Auslender N., Abbasi A.H., Rizel L., Hujeirat Y.,
RA Salama I., Garzozi H.J., Allon-Shalev S., Ben-Yosef T.;
RT "Genetic heterogeneity in two consanguineous families segregating early
RT onset retinal degeneration: the pitfalls of homozygosity mapping.";
RL Am. J. Med. Genet. A 149:650-656(2009).
RN [31]
RP VARIANTS RP12 PHE-27 AND TRP-1165.
RX PubMed=19956407;
RA Aldahmesh M.A., Safieh L.A., Alkuraya H., Al-Rajhi A., Shamseldin H.,
RA Hashem M., Alzahrani F., Khan A.O., Alqahtani F., Rahbeeni Z., Alowain M.,
RA Khalak H., Al-Hazzaa S., Meyer B.F., Alkuraya F.S.;
RT "Molecular characterization of retinitis pigmentosa in Saudi Arabia.";
RL Mol. Vis. 15:2464-2469(2009).
RN [32]
RP VARIANT LCA8 CYS-1161.
RX PubMed=20108431;
RA Vallespin E., Avila-Fernandez A., Velez-Monsalve C., Almoguera B.,
RA Martinez-Garcia M., Gomez-Dominguez B., Gonzalez-Roubaud C.,
RA Cantalapiedra D., Trujillo-Tiebas M.J., Ayuso C.;
RT "Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber
RT congenital amaurosis.";
RL Hum. Genet. 127:119-119(2010).
RN [33]
RP INVOLVEMENT IN RETINAL DYSTROPHIES, VARIANTS EARLY-ONSET RETINAL DYSTROPHY
RP TYR-310; CYS-764 AND TYR-948, AND VARIANT VAL-491.
RX PubMed=20683928; DOI=10.1002/humu.21336;
RA Coppieters F., Casteels I., Meire F., De Jaegere S., Hooghe S.,
RA van Regemorter N., Van Esch H., Matuleviciene A., Nunes L., Meersschaut V.,
RA Walraedt S., Standaert L., Coucke P., Hoeben H., Kroes H.Y.,
RA Vande Walle J., de Ravel T., Leroy B.P., De Baere E.;
RT "Genetic screening of LCA in Belgium: predominance of CEP290 and
RT identification of potential modifier alleles in AHI1 of CEP290-related
RT phenotypes.";
RL Hum. Mutat. 31:E1709-E1766(2010).
RN [34]
RP VARIANTS RP12 TRP-45; VAL-710; MET-745; SER-850; ILE-901; TYR-948 AND
RP HIS-1383, AND VARIANT HIS-769.
RX PubMed=20591486; DOI=10.1016/j.ophtha.2010.02.029;
RA Clark G.R., Crowe P., Muszynska D., O'Prey D., O'Neill J., Alexander S.,
RA Willoughby C.E., McKay G.J., Silvestri G., Simpson D.A.;
RT "Development of a diagnostic genetic test for simplex and autosomal
RT recessive retinitis pigmentosa.";
RL Ophthalmology 117:2169-2177(2010).
RN [35]
RP VARIANT RP12 LYS-1099.
RX PubMed=21987686; DOI=10.1001/archophthalmol.2011.290;
RA Azam M., Collin R.W., Malik A., Khan M.I., Shah S.T., Shah A.A.,
RA Hussain A., Sadeque A., Arimadyo K., Ajmal M., Azam A., Qureshi N.,
RA Bokhari H., Strom T.M., Cremers F.P., Qamar R., den Hollander A.I.;
RT "Identification of novel mutations in Pakistani families with autosomal
RT recessive retinitis pigmentosa.";
RL Arch. Ophthalmol. 129:1377-1378(2011).
RN [36]
RP VARIANTS RP12 SER-157; TRP-250; LYS-312; CYS-675; VAL-710; MET-745;
RP CYS-764; THR-836; ARG-846; TYR-948; SER-1012; ASN-1025 AND GLY-1174,
RP VARIANTS LCA8 THR-205; SER-850; THR-1003; ARG-1103; PRO-1107; GLY-1174 AND
RP LEU-1381, AND VARIANTS EARLY-ONSET RETINAL DYSTROPHY THR-741 AND ASP-1365.
RX PubMed=20956273; DOI=10.1136/bjo.2010.186882;
RA Henderson R.H., Mackay D.S., Li Z., Moradi P., Sergouniotis P.,
RA Russell-Eggitt I., Thompson D.A., Robson A.G., Holder G.E., Webster A.R.,
RA Moore A.T.;
RT "Phenotypic variability in patients with retinal dystrophies due to
RT mutations in CRB1.";
RL Br. J. Ophthalmol. 95:811-817(2011).
RN [37]
RP VARIANT RP12 LEU-1305.
RX PubMed=22128245;
RA Siemiatkowska A.M., Arimadyo K., Moruz L.M., Astuti G.D.,
RA de Castro-Miro M., Zonneveld M.N., Strom T.M., de Wijs I.J.,
RA Hoefsloot L.H., Faradz S.M., Cremers F.P., den Hollander A.I., Collin R.W.;
RT "Molecular genetic analysis of retinitis pigmentosa in Indonesia using
RT genome-wide homozygosity mapping.";
RL Mol. Vis. 17:3013-3024(2011).
RN [38]
RP VARIANTS LCA8 PRO-635 AND THR-741, AND VARIANTS LYS-222 AND MET-289.
RX PubMed=21602930; DOI=10.1371/journal.pone.0019458;
RA Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q.,
RA Hejtmancik J.F.;
RT "Detection of variants in 15 genes in 87 unrelated Chinese patients with
RT Leber congenital amaurosis.";
RL PLoS ONE 6:E19458-E19458(2011).
RN [39]
RP INVOLVEMENT IN RETINAL DYSTROPHIES, VARIANTS RP12 TYR-584; PHE-740;
RP THR-741; THR-836; TYR-948 AND ARG-1103, AND VARIANTS EARLY-ONSET RETINAL
RP DYSTROPHY ASN-789 DEL; CYS-1198 AND SER-1223.
RX PubMed=22065545; DOI=10.1002/humu.21653;
RA Bujakowska K., Audo I., Mohand-Said S., Lancelot M.E., Antonio A.,
RA Germain A., Leveillard T., Letexier M., Saraiva J.P., Lonjou C.,
RA Carpentier W., Sahel J.A., Bhattacharya S.S., Zeitz C.;
RT "CRB1 mutations in inherited retinal dystrophies.";
RL Hum. Mutat. 33:306-315(2012).
RN [40]
RP VARIANTS RP12 ASN-534 AND MET-745.
RX PubMed=22334370; DOI=10.1002/humu.22045;
RA Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L.,
RA Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J.,
RA Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U., Branham K.E.,
RA den Hollander A.I., Hoischen A., Hoyng C., Klevering B.J.,
RA van den Born L.I., Veltman J.A., Cremers F.P., Scheffer H.;
RT "Next-generation genetic testing for retinitis pigmentosa.";
RL Hum. Mutat. 33:963-972(2012).
RN [41]
RP INVOLVEMENT IN RETINAL DYSTROPHIES, VARIANTS LCA8 328-TRP--ILE-1406 DEL;
RP ARG-948; TYR-948 AND 1226-GLY--ILE-1406 DEL, VARIANTS EARLY-ONSET RETINAL
RP DYSTROPHY HIS-764 AND 1390-ARG--ILE-1406 DEL, VARIANTS RP12 THR-836 AND
RP ARG-1107, AND VARIANTS PRO-479; PRO-921 AND ASN-1031.
RX PubMed=28819299; DOI=10.1038/s41598-017-09035-1;
RA Motta F.L., Salles M.V., Costa K.A., Filippelli-Silva R., Martin R.P.,
RA Sallum J.M.F.;
RT "The correlation between CRB1 variants and the clinical severity of
RT Brazilian patients with different inherited retinal dystrophy phenotypes.";
RL Sci. Rep. 7:8654-8654(2017).
RN [42]
RP VARIANT ASN-894 DEL.
RX PubMed=30120214; DOI=10.1136/jmedgenet-2018-105364;
RA de Bruijn S.E., Verbakel S.K., de Vrieze E., Kremer H., Cremers F.P.M.,
RA Hoyng C.B., van den Born L.I., Roosing S.;
RT "Homozygous variants in KIAA1549, encoding a ciliary protein, are
RT associated with autosomal recessive retinitis pigmentosa.";
RL J. Med. Genet. 55:705-712(2018).
CC -!- FUNCTION: Plays a role in photoreceptor morphogenesis in the retina (By
CC similarity). May maintain cell polarization and adhesion (By
CC similarity). {ECO:0000250|UniProtKB:Q8VHS2}.
CC -!- SUBUNIT: Component of a complex composed of PALS1, CRB1 and EPB41L5
CC (PubMed:17920587). Within the complex, interacts (via intracellular
CC domain) with PALS1 and EPB41L5 (via FERM domain) (PubMed:17920587).
CC Forms a complex with MPP4 and PALS1 (PubMed:15914641). Interacts with
CC MPDZ/MUPP1 and MPP4 (By similarity). {ECO:0000250|UniProtKB:Q8VHS2,
CC ECO:0000269|PubMed:15914641, ECO:0000269|PubMed:17920587}.
CC -!- INTERACTION:
CC P82279; Q9HCM4: EPB41L5; NbExp=4; IntAct=EBI-1048648, EBI-1047162;
CC P82279; Q96JB8: MPP4; NbExp=2; IntAct=EBI-1048648, EBI-2483346;
CC P82279; Q8N3R9: PALS1; NbExp=5; IntAct=EBI-1048648, EBI-2513978;
CC P82279; Q8NI35: PATJ; NbExp=2; IntAct=EBI-1048648, EBI-724390;
CC P82279; Q58CU2: EPB41L5; Xeno; NbExp=2; IntAct=EBI-1048648, EBI-26451934;
CC P82279; A0A3Q1LY00: PALS1; Xeno; NbExp=3; IntAct=EBI-1048648, EBI-26451960;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Apical cell membrane
CC {ECO:0000250|UniProtKB:Q8VHS2}; Single-pass type I membrane protein
CC {ECO:0000255}. Secreted {ECO:0000305}. Cell projection, cilium,
CC photoreceptor outer segment {ECO:0000250|UniProtKB:Q8VHS2}.
CC Photoreceptor inner segment {ECO:0000250|UniProtKB:Q8VHS2}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=P82279-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P82279-2; Sequence=VSP_014728, VSP_014729;
CC Name=3;
CC IsoId=P82279-3; Sequence=VSP_014725;
CC Name=4;
CC IsoId=P82279-4; Sequence=VSP_014724, VSP_014726, VSP_014727;
CC Name=5;
CC IsoId=P82279-5; Sequence=VSP_045332;
CC -!- TISSUE SPECIFICITY: Preferential expression in retina, also expressed
CC in brain, testis, fetal brain and fetal eye (PubMed:15914641).
CC Expressed at the outer limiting membrane and apical to adherens
CC junctions in the retina (PubMed:15914641).
CC {ECO:0000269|PubMed:15914641}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the retinal layer of the optic
CC vesicle, and weakly expressed in the retinal pigment epithelium at 12.5
CC dpc. {ECO:0000269|PubMed:17920587}.
CC -!- PTM: Extensively glycosylated. {ECO:0000269|PubMed:15914641}.
CC -!- DISEASE: Note=CRB1 mutations have been found in various retinal
CC dystrophies, chronic and disabling disorders of visual function. They
CC predominantly involve the posterior portion of the ocular fundus, due
CC to degeneration in the sensory layer of the retina, retinal pigment
CC epithelium, Bruch membrane, choroid, or a combination of these tissues.
CC Onset of inherited retinal dystrophies is painless, bilateral and
CC typically progressive. Most people experience gradual peripheral vision
CC loss or tunnel vision, and difficulties with poor illumination and
CC night vision. Central vision is usually unaffected, so the person may
CC still be able to read. However, it can also deteriorate to cause total
CC blindness. Examples of retinal dystrophies are retinitis pigmentosa,
CC Leber congenital amaurosis, cone-rod dystrophy among others.
CC {ECO:0000269|PubMed:20683928, ECO:0000269|PubMed:22065545,
CC ECO:0000269|PubMed:28819299}.
CC -!- DISEASE: Retinitis pigmentosa 12 (RP12) [MIM:600105]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. RP12 is an autosomal recessive,
CC severe form often manifesting in early childhood. Patients experiment
CC progressive visual field loss with severe visual impairment before the
CC age of twenty. Some patients have a preserved paraarteriolar retinal
CC pigment epithelium (PPRPE) and hypermetropia.
CC {ECO:0000269|PubMed:10508521, ECO:0000269|PubMed:11389483,
CC ECO:0000269|PubMed:11559858, ECO:0000269|PubMed:12573663,
CC ECO:0000269|PubMed:12843338, ECO:0000269|PubMed:15459956,
CC ECO:0000269|PubMed:19140180, ECO:0000269|PubMed:19956407,
CC ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273,
CC ECO:0000269|PubMed:21987686, ECO:0000269|PubMed:22065545,
CC ECO:0000269|PubMed:22128245, ECO:0000269|PubMed:22334370,
CC ECO:0000269|PubMed:28819299}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Leber congenital amaurosis 8 (LCA8) [MIM:613835]: A severe
CC dystrophy of the retina, typically becoming evident in the first years
CC of life. Visual function is usually poor and often accompanied by
CC nystagmus, sluggish or near-absent pupillary responses, photophobia,
CC high hyperopia and keratoconus. {ECO:0000269|PubMed:11231775,
CC ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:12567265,
CC ECO:0000269|PubMed:12573663, ECO:0000269|PubMed:12700176,
CC ECO:0000269|PubMed:12843338, ECO:0000269|PubMed:15024725,
CC ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:15691574,
CC ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:16936081,
CC ECO:0000269|PubMed:17128490, ECO:0000269|PubMed:17438615,
CC ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:18055821,
CC ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:20108431,
CC ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:21602930,
CC ECO:0000269|PubMed:28819299}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Pigmented paravenous chorioretinal atrophy (PPCRA)
CC [MIM:172870]: Unusual retinal degeneration characterized by
CC accumulation of pigmentation along retinal veins. PPCRA is dominantly
CC inherited, but exhibited variable expressivity. Males are more likely
CC to exhibit a severe phenotype, whereas females may remain virtually
CC asymptomatic even in later years. The PPCRA phenotype is associated
CC with a mutation in CRB1 gene which is likely to affect the structure of
CC the CRB1 protein. {ECO:0000269|PubMed:15623792}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the Crumbs protein family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAE45845.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Mutations of the CRB1 gene; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/sci-news/crb1mut.htm";
CC ---------------------------------------------------------------------------
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DR EMBL; AF154671; AAF01361.1; -; mRNA.
DR EMBL; AY043323; AAL10680.1; -; mRNA.
DR EMBL; AY043324; AAL10681.1; -; mRNA.
DR EMBL; AY043325; AAL10682.1; -; mRNA.
DR EMBL; AJ748821; CAG38658.1; -; mRNA.
DR EMBL; BX640729; CAE45845.1; ALT_SEQ; mRNA.
DR EMBL; AK299368; BAH13018.1; -; mRNA.
DR EMBL; AL136322; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139136; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513325; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356315; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91277.1; -; Genomic_DNA.
DR EMBL; BC136271; AAI36272.1; -; mRNA.
DR CCDS; CCDS1390.1; -. [P82279-1]
DR CCDS; CCDS53454.1; -. [P82279-3]
DR CCDS; CCDS58052.1; -. [P82279-5]
DR RefSeq; NP_001180569.1; NM_001193640.1. [P82279-3]
DR RefSeq; NP_001244894.1; NM_001257965.1.
DR RefSeq; NP_001244895.1; NM_001257966.1. [P82279-5]
DR RefSeq; NP_957705.1; NM_201253.2. [P82279-1]
DR PDB; 4UU5; X-ray; 1.23 A; B=1390-1406.
DR PDBsum; 4UU5; -.
DR AlphaFoldDB; P82279; -.
DR SMR; P82279; -.
DR BioGRID; 116990; 6.
DR ComplexPortal; CPX-6167; CRUMBS1-PALS1-PATJ cell polarity complex.
DR CORUM; P82279; -.
DR IntAct; P82279; 9.
DR MINT; P82279; -.
DR STRING; 9606.ENSP00000356370; -.
DR TCDB; 9.B.87.1.29; the selenoprotein p receptor (selp-receptor) family.
DR GlyGen; P82279; 23 sites.
DR iPTMnet; P82279; -.
DR PhosphoSitePlus; P82279; -.
DR BioMuta; CRB1; -.
DR DMDM; 71153499; -.
DR MassIVE; P82279; -.
DR MaxQB; P82279; -.
DR PaxDb; P82279; -.
DR PeptideAtlas; P82279; -.
DR PRIDE; P82279; -.
DR ProteomicsDB; 57705; -. [P82279-1]
DR ProteomicsDB; 57706; -. [P82279-2]
DR ProteomicsDB; 57707; -. [P82279-3]
DR ProteomicsDB; 57708; -. [P82279-4]
DR ProteomicsDB; 6718; -.
DR Antibodypedia; 34478; 71 antibodies from 23 providers.
DR DNASU; 23418; -.
DR Ensembl; ENST00000367399.6; ENSP00000356369.2; ENSG00000134376.17. [P82279-3]
DR Ensembl; ENST00000367400.8; ENSP00000356370.3; ENSG00000134376.17. [P82279-1]
DR Ensembl; ENST00000484075.5; ENSP00000433932.1; ENSG00000134376.17. [P82279-2]
DR Ensembl; ENST00000538660.5; ENSP00000438091.1; ENSG00000134376.17. [P82279-5]
DR Ensembl; ENST00000638467.1; ENSP00000491102.1; ENSG00000134376.17. [P82279-2]
DR GeneID; 23418; -.
DR KEGG; hsa:23418; -.
DR MANE-Select; ENST00000367400.8; ENSP00000356370.3; NM_201253.3; NP_957705.1.
DR UCSC; uc001gtz.4; human. [P82279-1]
DR CTD; 23418; -.
DR DisGeNET; 23418; -.
DR GeneCards; CRB1; -.
DR GeneReviews; CRB1; -.
DR HGNC; HGNC:2343; CRB1.
DR HPA; ENSG00000134376; Group enriched (brain, retina).
DR MalaCards; CRB1; -.
DR MIM; 172870; phenotype.
DR MIM; 268000; phenotype.
DR MIM; 600105; phenotype.
DR MIM; 604210; gene.
DR MIM; 613835; phenotype.
DR neXtProt; NX_P82279; -.
DR OpenTargets; ENSG00000134376; -.
DR Orphanet; 65; Leber congenital amaurosis.
DR Orphanet; 35612; Nanophthalmos.
DR Orphanet; 251295; Pigmented paravenous retinochoroidal atrophy.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA26863; -.
DR VEuPathDB; HostDB:ENSG00000134376; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00940000155152; -.
DR HOGENOM; CLU_391592_0_0_1; -.
DR InParanoid; P82279; -.
DR OMA; NCTEFQG; -.
DR PhylomeDB; P82279; -.
DR TreeFam; TF316224; -.
DR PathwayCommons; P82279; -.
DR SignaLink; P82279; -.
DR BioGRID-ORCS; 23418; 6 hits in 1056 CRISPR screens.
DR ChiTaRS; CRB1; human.
DR GeneWiki; CRB1; -.
DR GenomeRNAi; 23418; -.
DR Pharos; P82279; Tbio.
DR PRO; PR:P82279; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P82279; protein.
DR Bgee; ENSG00000134376; Expressed in ganglionic eminence and 116 other tissues.
DR ExpressionAtlas; P82279; baseline and differential.
DR Genevisible; P82279; HS.
DR GO; GO:0005912; C:adherens junction; IDA:UniProtKB.
DR GO; GO:0043296; C:apical junction complex; IC:ComplexPortal.
DR GO; GO:0016324; C:apical plasma membrane; IC:ComplexPortal.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0097386; C:glial cell projection; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005902; C:microvillus; IEA:Ensembl.
DR GO; GO:0001917; C:photoreceptor inner segment; IEA:UniProtKB-SubCell.
DR GO; GO:0001750; C:photoreceptor outer segment; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0035003; C:subapical complex; IEA:Ensembl.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0001974; P:blood vessel remodeling; IEA:Ensembl.
DR GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
DR GO; GO:0071482; P:cellular response to light stimulus; IEA:Ensembl.
DR GO; GO:0050908; P:detection of light stimulus involved in visual perception; IEA:Ensembl.
DR GO; GO:0061159; P:establishment of bipolar cell polarity involved in cell morphogenesis; IEA:Ensembl.
DR GO; GO:0007163; P:establishment or maintenance of cell polarity; TAS:ProtInc.
DR GO; GO:0045197; P:establishment or maintenance of epithelial cell apical/basal polarity; IBA:GO_Central.
DR GO; GO:0042462; P:eye photoreceptor cell development; IEA:Ensembl.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0010001; P:glial cell differentiation; IEA:Ensembl.
DR GO; GO:0007157; P:heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; IBA:GO_Central.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IEA:Ensembl.
DR GO; GO:0035845; P:photoreceptor cell outer segment organization; IEA:Ensembl.
DR GO; GO:0007009; P:plasma membrane organization; IEA:Ensembl.
DR GO; GO:0060060; P:post-embryonic retina morphogenesis in camera-type eye; IEA:Ensembl.
DR GO; GO:0008104; P:protein localization; IEA:Ensembl.
DR GO; GO:0010842; P:retina layer formation; IEA:Ensembl.
DR CDD; cd00110; LamG; 3.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR013032; EGF-like_CS.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR001791; Laminin_G.
DR Pfam; PF00008; EGF; 13.
DR Pfam; PF12661; hEGF; 3.
DR Pfam; PF02210; Laminin_G_2; 3.
DR SMART; SM00181; EGF; 18.
DR SMART; SM00179; EGF_CA; 16.
DR SMART; SM00282; LamG; 3.
DR SUPFAM; SSF49899; SSF49899; 3.
DR SUPFAM; SSF57184; SSF57184; 2.
DR PROSITE; PS00010; ASX_HYDROXYL; 10.
DR PROSITE; PS00022; EGF_1; 15.
DR PROSITE; PS01186; EGF_2; 11.
DR PROSITE; PS50026; EGF_3; 19.
DR PROSITE; PS01187; EGF_CA; 7.
DR PROSITE; PS50025; LAM_G_DOMAIN; 3.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Calcium; Cell membrane;
KW Cell projection; Disease variant; Disulfide bond; EGF-like domain;
KW Glycoprotein; Leber congenital amaurosis; Membrane; Reference proteome;
KW Repeat; Retinitis pigmentosa; Secreted; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..1406
FT /note="Protein crumbs homolog 1"
FT /id="PRO_0000007500"
FT TOPO_DOM 26..1347
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1348..1368
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1369..1406
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 30..68
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 70..108
FT /note="EGF-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 110..146
FT /note="EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 148..184
FT /note="EGF-like 4; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 186..222
FT /note="EGF-like 5; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 224..260
FT /note="EGF-like 6; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 262..299
FT /note="EGF-like 7; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 301..337
FT /note="EGF-like 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 339..395
FT /note="EGF-like 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 397..439
FT /note="EGF-like 10; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 441..481
FT /note="EGF-like 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 485..670
FT /note="Laminin G-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT DOMAIN 672..708
FT /note="EGF-like 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 714..885
FT /note="Laminin G-like 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT DOMAIN 887..923
FT /note="EGF-like 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 924..960
FT /note="EGF-like 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 950..1137
FT /note="Laminin G-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT DOMAIN 1139..1175
FT /note="EGF-like 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1177..1212
FT /note="EGF-like 16; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1214..1250
FT /note="EGF-like 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1255..1295
FT /note="EGF-like 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 1297..1333
FT /note="EGF-like 19; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT REGION 1370..1406
FT /note="Interaction with EPB41L5"
FT /evidence="ECO:0000269|PubMed:17920587"
FT CARBOHYD 30
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 42
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 215
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 287
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 313
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 322
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 418
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 427
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 453
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 550
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 561
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 657
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 757
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 871
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 880
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 968
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 975
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1000
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1190
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1243
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1265
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1273
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 34..45
FT /evidence="ECO:0000250"
FT DISULFID 39..54
FT /evidence="ECO:0000250"
FT DISULFID 56..67
FT /evidence="ECO:0000250"
FT DISULFID 74..85
FT /evidence="ECO:0000250"
FT DISULFID 79..96
FT /evidence="ECO:0000250"
FT DISULFID 98..107
FT /evidence="ECO:0000250"
FT DISULFID 114..125
FT /evidence="ECO:0000250"
FT DISULFID 119..134
FT /evidence="ECO:0000250"
FT DISULFID 136..145
FT /evidence="ECO:0000250"
FT DISULFID 152..163
FT /evidence="ECO:0000250"
FT DISULFID 157..172
FT /evidence="ECO:0000250"
FT DISULFID 174..183
FT /evidence="ECO:0000250"
FT DISULFID 190..201
FT /evidence="ECO:0000250"
FT DISULFID 195..210
FT /evidence="ECO:0000250"
FT DISULFID 212..221
FT /evidence="ECO:0000250"
FT DISULFID 228..239
FT /evidence="ECO:0000250"
FT DISULFID 233..248
FT /evidence="ECO:0000250"
FT DISULFID 250..259
FT /evidence="ECO:0000250"
FT DISULFID 266..277
FT /evidence="ECO:0000250"
FT DISULFID 271..286
FT /evidence="ECO:0000250"
FT DISULFID 288..298
FT /evidence="ECO:0000250"
FT DISULFID 305..316
FT /evidence="ECO:0000250"
FT DISULFID 310..325
FT /evidence="ECO:0000250"
FT DISULFID 327..336
FT /evidence="ECO:0000250"
FT DISULFID 343..354
FT /evidence="ECO:0000250"
FT DISULFID 348..383
FT /evidence="ECO:0000250"
FT DISULFID 385..394
FT /evidence="ECO:0000250"
FT DISULFID 401..412
FT /evidence="ECO:0000250"
FT DISULFID 406..421
FT /evidence="ECO:0000250"
FT DISULFID 423..438
FT /evidence="ECO:0000250"
FT DISULFID 445..456
FT /evidence="ECO:0000250"
FT DISULFID 450..469
FT /evidence="ECO:0000250"
FT DISULFID 471..480
FT /evidence="ECO:0000250"
FT DISULFID 642..670
FT /evidence="ECO:0000250"
FT DISULFID 676..687
FT /evidence="ECO:0000250"
FT DISULFID 681..696
FT /evidence="ECO:0000250"
FT DISULFID 698..707
FT /evidence="ECO:0000250"
FT DISULFID 851..885
FT /evidence="ECO:0000250"
FT DISULFID 891..902
FT /evidence="ECO:0000250"
FT DISULFID 896..911
FT /evidence="ECO:0000250"
FT DISULFID 913..922
FT /evidence="ECO:0000250"
FT DISULFID 928..939
FT /evidence="ECO:0000250"
FT DISULFID 933..948
FT /evidence="ECO:0000250"
FT DISULFID 1096..1137
FT /evidence="ECO:0000250"
FT DISULFID 1143..1154
FT /evidence="ECO:0000250"
FT DISULFID 1148..1163
FT /evidence="ECO:0000250"
FT DISULFID 1165..1174
FT /evidence="ECO:0000250"
FT DISULFID 1181..1191
FT /evidence="ECO:0000250"
FT DISULFID 1186..1200
FT /evidence="ECO:0000250"
FT DISULFID 1202..1211
FT /evidence="ECO:0000250"
FT DISULFID 1218..1229
FT /evidence="ECO:0000250"
FT DISULFID 1223..1238
FT /evidence="ECO:0000250"
FT DISULFID 1240..1249
FT /evidence="ECO:0000250"
FT DISULFID 1259..1274
FT /evidence="ECO:0000250"
FT DISULFID 1268..1283
FT /evidence="ECO:0000250"
FT DISULFID 1285..1294
FT /evidence="ECO:0000250"
FT DISULFID 1301..1312
FT /evidence="ECO:0000250"
FT DISULFID 1306..1321
FT /evidence="ECO:0000250"
FT DISULFID 1323..1332
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..351
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_014724"
FT VAR_SEQ 218..329
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15914641"
FT /id="VSP_014725"
FT VAR_SEQ 352..390
FT /note="GECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFT -> MIRNSLCQP
FT SRCLDEYLFFNRKMFGARTHGFHILMAMLI (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_014726"
FT VAR_SEQ 710..1245
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045332"
FT VAR_SEQ 1294..1406
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_014727"
FT VAR_SEQ 1336..1376
FT /note="LADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQ -> VSSLSFY
FT VSLLFWQNLFQLLSYLILRMNDEPVVEWGEQEDY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10508521,
FT ECO:0000303|PubMed:11734541"
FT /id="VSP_014728"
FT VAR_SEQ 1377..1406
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10508521,
FT ECO:0000303|PubMed:11734541"
FT /id="VSP_014729"
FT VARIANT 27
FT /note="C -> F (in RP12; dbSNP:rs1460946384)"
FT /evidence="ECO:0000269|PubMed:19956407"
FT /id="VAR_064180"
FT VARIANT 45
FT /note="C -> W (in RP12; dbSNP:rs145141811)"
FT /evidence="ECO:0000269|PubMed:20591486"
FT /id="VAR_067125"
FT VARIANT 144
FT /note="F -> V (in LCA8; dbSNP:rs62636262)"
FT /evidence="ECO:0000269|PubMed:11231775"
FT /id="VAR_022941"
FT VARIANT 157
FT /note="C -> S (in RP12)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067126"
FT VARIANT 161
FT /note="A -> V (in RP12; dbSNP:rs62635651)"
FT /evidence="ECO:0000269|PubMed:10508521"
FT /id="VAR_011641"
FT VARIANT 162
FT /note="V -> M (in PPCRA; dbSNP:rs137853138)"
FT /evidence="ECO:0000269|PubMed:15623792"
FT /id="VAR_022942"
FT VARIANT 165..167
FT /note="Missing (in RP12)"
FT /id="VAR_067127"
FT VARIANT 195
FT /note="C -> F (in RP12; dbSNP:rs764256655)"
FT /evidence="ECO:0000269|PubMed:15459956"
FT /id="VAR_022943"
FT VARIANT 205
FT /note="I -> T (in LCA8; unknown pathological significance;
FT dbSNP:rs62645749)"
FT /evidence="ECO:0000269|PubMed:12843338,
FT ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:20956273"
FT /id="VAR_022944"
FT VARIANT 222
FT /note="E -> K (in dbSNP:rs114846212)"
FT /evidence="ECO:0000269|PubMed:21602930"
FT /id="VAR_067128"
FT VARIANT 250
FT /note="C -> W (in RP12; dbSNP:rs62635652)"
FT /evidence="ECO:0000269|PubMed:10508521,
FT ECO:0000269|PubMed:20956273"
FT /id="VAR_011642"
FT VARIANT 289
FT /note="T -> M (rare variant found in patients with retinal
FT dystrophy; does not segregate with the disease in a family;
FT unlikely to be pathogenic; dbSNP:rs62636263)"
FT /evidence="ECO:0000269|PubMed:11231775,
FT ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:12843338,
FT ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:21602930"
FT /id="VAR_022945"
FT VARIANT 310
FT /note="C -> Y (probable disease-associated variant found in
FT patients with early-onset retinal dystrophy;
FT dbSNP:rs779835125)"
FT /evidence="ECO:0000269|PubMed:20683928"
FT /id="VAR_067129"
FT VARIANT 312
FT /note="N -> K (in RP12)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067130"
FT VARIANT 328..1406
FT /note="Missing (in LCA8)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079622"
FT VARIANT 333
FT /note="G -> D (in LCA8; dbSNP:rs587783015)"
FT /evidence="ECO:0000269|PubMed:18682808"
FT /id="VAR_067131"
FT VARIANT 383
FT /note="C -> Y (in LCA8; dbSNP:rs62645754)"
FT /evidence="ECO:0000269|PubMed:11231775"
FT /id="VAR_022946"
FT VARIANT 433
FT /note="Y -> C (in RP12; dbSNP:rs62636288)"
FT /evidence="ECO:0000269|PubMed:11389483"
FT /id="VAR_022947"
FT VARIANT 438
FT /note="C -> Y (in LCA8; dbSNP:rs1571522690)"
FT /evidence="ECO:0000269|PubMed:17724218"
FT /id="VAR_067132"
FT VARIANT 454
FT /note="G -> R (in LCA8; dbSNP:rs954595597)"
FT /evidence="ECO:0000269|PubMed:16936081"
FT /id="VAR_067133"
FT VARIANT 479
FT /note="L -> P (probable disease-associated variant found in
FT patients with rod-cone retinal dystrophy;
FT dbSNP:rs963201816)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079623"
FT VARIANT 480
FT /note="C -> G (in LCA8)"
FT /evidence="ECO:0000269|PubMed:11231775"
FT /id="VAR_022948"
FT VARIANT 480
FT /note="C -> R (in LCA8; dbSNP:rs62636264)"
FT /evidence="ECO:0000269|PubMed:11231775,
FT ECO:0000269|PubMed:16205573"
FT /id="VAR_022949"
FT VARIANT 488
FT /note="F -> S (in dbSNP:rs777377174)"
FT /evidence="ECO:0000269|PubMed:16205573"
FT /id="VAR_067134"
FT VARIANT 491
FT /note="D -> V (found in a patient with early-onset retinal
FT dystrophy; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:20683928"
FT /id="VAR_067135"
FT VARIANT 534
FT /note="K -> N (in RP12)"
FT /evidence="ECO:0000269|PubMed:22334370"
FT /id="VAR_068363"
FT VARIANT 535
FT /note="L -> P (in LCA8; dbSNP:rs113082791)"
FT /evidence="ECO:0000269|PubMed:17438615"
FT /id="VAR_067136"
FT VARIANT 564
FT /note="D -> Y (in LCA8)"
FT /evidence="ECO:0000269|PubMed:17128490"
FT /id="VAR_067137"
FT VARIANT 578
FT /note="V -> E (in RP12; dbSNP:rs1266363944)"
FT /evidence="ECO:0000269|PubMed:15459956"
FT /id="VAR_022950"
FT VARIANT 584
FT /note="D -> Y (in LCA8)"
FT /evidence="ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:22065545"
FT /id="VAR_022951"
FT VARIANT 587
FT /note="C -> Y (in RP12; dbSNP:rs1471328495)"
FT /evidence="ECO:0000269|PubMed:15459956"
FT /id="VAR_022952"
FT VARIANT 635
FT /note="S -> P (in LCA8; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:21602930"
FT /id="VAR_067138"
FT VARIANT 675
FT /note="W -> C (in RP12)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067139"
FT VARIANT 679
FT /note="Q -> E (in dbSNP:rs62636286)"
FT /evidence="ECO:0000269|PubMed:12843338"
FT /id="VAR_022953"
FT VARIANT 681
FT /note="C -> Y (in LCA8; dbSNP:rs62636266)"
FT /evidence="ECO:0000269|PubMed:11231775,
FT ECO:0000269|PubMed:16205573"
FT /id="VAR_022954"
FT VARIANT 710
FT /note="E -> Q (in LCA8; dbSNP:rs62645755)"
FT /evidence="ECO:0000269|PubMed:15024725"
FT /id="VAR_022955"
FT VARIANT 710
FT /note="E -> V (in RP12; dbSNP:rs145282040)"
FT /evidence="ECO:0000269|PubMed:20591486,
FT ECO:0000269|PubMed:20956273"
FT /id="VAR_067140"
FT VARIANT 740
FT /note="S -> F (in RP12)"
FT /evidence="ECO:0000269|PubMed:22065545"
FT /id="VAR_067141"
FT VARIANT 741
FT /note="M -> T (in LCA8; also found in patients with early-
FT onset rod-cone retinal dystrophy; dbSNP:rs62636267)"
FT /evidence="ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:21602930,
FT ECO:0000269|PubMed:22065545"
FT /id="VAR_022956"
FT VARIANT 745
FT /note="T -> M (in RP12 and LCA8; dbSNP:rs28939720)"
FT /evidence="ECO:0000269|PubMed:10508521,
FT ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956,
FT ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17724218,
FT ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273,
FT ECO:0000269|PubMed:22334370"
FT /id="VAR_011643"
FT VARIANT 749
FT /note="Missing (in RP12 and LCA8; dbSNP:rs62635653)"
FT /evidence="ECO:0000269|PubMed:12700176,
FT ECO:0000269|PubMed:12843338"
FT /id="VAR_022957"
FT VARIANT 753
FT /note="L -> P (in LCA8; dbSNP:rs896160584)"
FT /evidence="ECO:0000269|PubMed:15691574,
FT ECO:0000269|PubMed:16205573"
FT /id="VAR_067142"
FT VARIANT 764
FT /note="R -> C (in RP12 and LCA8; dbSNP:rs62635654)"
FT /evidence="ECO:0000269|PubMed:10508521,
FT ECO:0000269|PubMed:11231775, ECO:0000269|PubMed:11389483,
FT ECO:0000269|PubMed:12700176, ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:15691574,
FT ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:20683928,
FT ECO:0000269|PubMed:20956273"
FT /id="VAR_011644"
FT VARIANT 764
FT /note="R -> H (found in a patient with early-onset retinal
FT dystrophy; unknown pathological significance;
FT dbSNP:rs375040930)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079624"
FT VARIANT 769
FT /note="R -> H (in dbSNP:rs62636287)"
FT /evidence="ECO:0000269|PubMed:12843338,
FT ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:20591486"
FT /id="VAR_022958"
FT VARIANT 769
FT /note="R -> Q"
FT /evidence="ECO:0000269|PubMed:11231775"
FT /id="VAR_022959"
FT VARIANT 789
FT /note="Missing (in early-onset retinal dystrophy; probable
FT disease-associated variant; dbSNP:rs1433518605)"
FT /evidence="ECO:0000269|PubMed:22065545"
FT /id="VAR_067143"
FT VARIANT 821
FT /note="T -> M (in dbSNP:rs142857810)"
FT /evidence="ECO:0000269|PubMed:11389483"
FT /id="VAR_067144"
FT VARIANT 836
FT /note="P -> T (in RP12; dbSNP:rs116471343)"
FT /evidence="ECO:0000269|PubMed:15459956,
FT ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:22065545,
FT ECO:0000269|PubMed:28819299"
FT /id="VAR_022960"
FT VARIANT 837
FT /note="D -> H (in RP12; located on the same allele as T-
FT 1354; dbSNP:rs62636289)"
FT /evidence="ECO:0000269|PubMed:11389483"
FT /id="VAR_022961"
FT VARIANT 846
FT /note="G -> R (in RP12; dbSNP:rs539189291)"
FT /evidence="ECO:0000269|PubMed:12573663,
FT ECO:0000269|PubMed:20956273"
FT /id="VAR_022962"
FT VARIANT 850
FT /note="G -> S (in RP12 and LCA8; dbSNP:rs776591659)"
FT /evidence="ECO:0000269|PubMed:15459956,
FT ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273"
FT /id="VAR_022963"
FT VARIANT 852
FT /note="I -> T (in LCA8; dbSNP:rs62636271)"
FT /evidence="ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:17724218"
FT /id="VAR_022964"
FT VARIANT 891
FT /note="C -> G (in RP12; without preservation of the
FT paraarteriolar retinal pigment epithelium;
FT dbSNP:rs62635658)"
FT /evidence="ECO:0000269|PubMed:12843338"
FT /id="VAR_022965"
FT VARIANT 894
FT /note="N -> S (found in patients with retinitis pigmentosa;
FT unknown pathological significance; heterozygous;
FT dbSNP:rs62636290)"
FT /evidence="ECO:0000269|PubMed:11389483,
FT ECO:0000269|PubMed:30120214"
FT /id="VAR_022966"
FT VARIANT 901
FT /note="V -> I (in RP12; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:20591486"
FT /id="VAR_067145"
FT VARIANT 905
FT /note="R -> Q (in dbSNP:rs114052315)"
FT /evidence="ECO:0000269|PubMed:15459956"
FT /id="VAR_022967"
FT VARIANT 921
FT /note="A -> P (probable disease-associated variant found in
FT patients with rod-cone retinal dystrophy)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079625"
FT VARIANT 937
FT /note="A -> T (in LCA8; unknown pathological significance;
FT dbSNP:rs114630940)"
FT /evidence="ECO:0000269|PubMed:18682808"
FT /id="VAR_067146"
FT VARIANT 939
FT /note="C -> Y (in LCA8; dbSNP:rs1411345985)"
FT /evidence="ECO:0000269|PubMed:18055821"
FT /id="VAR_067147"
FT VARIANT 948
FT /note="C -> R (in LCA8; dbSNP:rs62645747)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079626"
FT VARIANT 948
FT /note="C -> Y (in RP12 and LCA8; without preservation of
FT the paraarteriolar retinal pigment epithelium;
FT dbSNP:rs62645748)"
FT /evidence="ECO:0000269|PubMed:10508521,
FT ECO:0000269|PubMed:11231775, ECO:0000269|PubMed:11389483,
FT ECO:0000269|PubMed:12700176, ECO:0000269|PubMed:12843338,
FT ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956,
FT ECO:0000269|PubMed:15691574, ECO:0000269|PubMed:16205573,
FT ECO:0000269|PubMed:18055821, ECO:0000269|PubMed:20591486,
FT ECO:0000269|PubMed:20683928, ECO:0000269|PubMed:20956273,
FT ECO:0000269|PubMed:22065545, ECO:0000269|PubMed:28819299"
FT /id="VAR_011645"
FT VARIANT 959
FT /note="G -> S (in RP12; unknown pathological significance;
FT dbSNP:rs557111131)"
FT /evidence="ECO:0000269|PubMed:15459956"
FT /id="VAR_022968"
FT VARIANT 962
FT /note="Missing (in RP12; without preservation of the
FT paraarteriolar retinal pigment epithelium)"
FT /evidence="ECO:0000269|PubMed:12843338"
FT /id="VAR_022969"
FT VARIANT 986
FT /note="N -> I (in RP12)"
FT /evidence="ECO:0000269|PubMed:15459956"
FT /id="VAR_022970"
FT VARIANT 989
FT /note="I -> T (in LCA8)"
FT /evidence="ECO:0000269|PubMed:12573663"
FT /id="VAR_022971"
FT VARIANT 1003
FT /note="I -> T (in LCA8; dbSNP:rs1409740542)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067148"
FT VARIANT 1012
FT /note="L -> S (in RP12)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067149"
FT VARIANT 1025
FT /note="S -> I (in LCA8; dbSNP:rs62636274)"
FT /evidence="ECO:0000269|PubMed:15024725"
FT /id="VAR_022972"
FT VARIANT 1025
FT /note="S -> N (in RP12)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067150"
FT VARIANT 1031
FT /note="D -> N (probable disease-associated variant found in
FT patients with rod-cone retinal dystrophy)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079627"
FT VARIANT 1041
FT /note="M -> T (in RP12; dbSNP:rs62635656)"
FT /evidence="ECO:0000269|PubMed:10508521"
FT /id="VAR_011646"
FT VARIANT 1071
FT /note="L -> P (in RP12; dbSNP:rs62635657)"
FT /evidence="ECO:0000269|PubMed:10508521,
FT ECO:0000269|PubMed:12573663"
FT /id="VAR_011647"
FT VARIANT 1099
FT /note="T -> K (in RP12)"
FT /evidence="ECO:0000269|PubMed:21987686"
FT /id="VAR_067151"
FT VARIANT 1100
FT /note="I -> R (in LCA8; dbSNP:rs62635659)"
FT /evidence="ECO:0000269|PubMed:11389483"
FT /id="VAR_011648"
FT VARIANT 1100
FT /note="I -> T (in RP12; dbSNP:rs62635659)"
FT /evidence="ECO:0000269|PubMed:12843338,
FT ECO:0000269|PubMed:15459956"
FT /id="VAR_022973"
FT VARIANT 1103
FT /note="G -> R (in LCA8 and RP12; dbSNP:rs62636275)"
FT /evidence="ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:19140180,
FT ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:22065545"
FT /id="VAR_022974"
FT VARIANT 1107
FT /note="L -> P (in LCA8; dbSNP:rs62636276)"
FT /evidence="ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:20956273"
FT /id="VAR_022975"
FT VARIANT 1107
FT /note="L -> R (in LCA8 and RP12; dbSNP:rs62636276)"
FT /evidence="ECO:0000269|PubMed:15024725,
FT ECO:0000269|PubMed:28819299"
FT /id="VAR_022976"
FT VARIANT 1161
FT /note="Y -> C (in LCA8; dbSNP:rs1414707912)"
FT /evidence="ECO:0000269|PubMed:20108431"
FT /id="VAR_067152"
FT VARIANT 1165
FT /note="C -> W (in RP12)"
FT /evidence="ECO:0000269|PubMed:19956407"
FT /id="VAR_064181"
FT VARIANT 1174
FT /note="C -> G (in LCA8 and RP12; dbSNP:rs917768074)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067153"
FT VARIANT 1181
FT /note="C -> R (in RP12; dbSNP:rs62636291)"
FT /evidence="ECO:0000269|PubMed:11389483"
FT /id="VAR_011649"
FT VARIANT 1198
FT /note="Y -> C (probable disease-associated variant found in
FT patients with early-onset retinal dystrophy)"
FT /evidence="ECO:0000269|PubMed:22065545"
FT /id="VAR_067154"
FT VARIANT 1205
FT /note="G -> R (in LCA8; dbSNP:rs574742644)"
FT /evidence="ECO:0000269|PubMed:11231775"
FT /id="VAR_022977"
FT VARIANT 1218
FT /note="C -> F (in LCA8)"
FT /evidence="ECO:0000269|PubMed:12700176"
FT /id="VAR_022978"
FT VARIANT 1223
FT /note="C -> S (probable disease-associated variant found in
FT patients with early-onset retinal dystrophy)"
FT /evidence="ECO:0000269|PubMed:22065545"
FT /id="VAR_067155"
FT VARIANT 1226..1406
FT /note="Missing (in LCA8)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079628"
FT VARIANT 1305
FT /note="P -> L (in RP12; dbSNP:rs1391910861)"
FT /evidence="ECO:0000269|PubMed:22128245"
FT /id="VAR_067156"
FT VARIANT 1317
FT /note="N -> H (in LCA8; dbSNP:rs62636281)"
FT /evidence="ECO:0000269|PubMed:11231775"
FT /id="VAR_022979"
FT VARIANT 1321
FT /note="C -> S (in LCA8; also early onset RP without
FT preservation of the paraarteriolar retinal pigment
FT epithelium; dbSNP:rs62635649)"
FT /evidence="ECO:0000269|PubMed:11559858,
FT ECO:0000269|PubMed:15024725"
FT /id="VAR_022980"
FT VARIANT 1331
FT /note="R -> H (in dbSNP:rs62636285)"
FT /evidence="ECO:0000269|PubMed:11231775,
FT ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:12843338"
FT /id="VAR_022981"
FT VARIANT 1332
FT /note="C -> F (in LCA8; dbSNP:rs377543137)"
FT /evidence="ECO:0000269|PubMed:18055821"
FT /id="VAR_067157"
FT VARIANT 1354
FT /note="A -> T (in RP12; located on the same allele as H-
FT 837; dbSNP:rs200469148)"
FT /evidence="ECO:0000269|PubMed:11389483"
FT /id="VAR_022982"
FT VARIANT 1365
FT /note="A -> D (probable disease-associated variant found in
FT patients with early-onset retinal dystrophy)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067158"
FT VARIANT 1381
FT /note="P -> L (in LCA8)"
FT /evidence="ECO:0000269|PubMed:20956273"
FT /id="VAR_067159"
FT VARIANT 1383
FT /note="R -> H (in RP12; dbSNP:rs200573274)"
FT /evidence="ECO:0000269|PubMed:15459956,
FT ECO:0000269|PubMed:20591486"
FT /id="VAR_022983"
FT VARIANT 1390..1406
FT /note="Missing (found in a patient with early-onset retinal
FT dystrophy; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28819299"
FT /id="VAR_079629"
FT MUTAGEN 1377..1379
FT /note="Missing: Abolishes interaction with EPB41L5. No
FT effection on interaction wtih PALS1."
FT /evidence="ECO:0000269|PubMed:17920587"
FT MUTAGEN 1403..1406
FT /note="Missing: Abolishes interaction with PALS1. Not
FT required for interaction with EPB41L5."
FT /evidence="ECO:0000269|PubMed:17920587"
FT TURN 1394..1396
FT /evidence="ECO:0007829|PDB:4UU5"
FT STRAND 1403..1406
FT /evidence="ECO:0007829|PDB:4UU5"
FT VARIANT P82279-2:1361
FT /note="R -> H (found in a patient with Leber congenital
FT amaurosis; unknown pathological significance)"
FT /evidence="ECO:0000305"
FT /id="VAR_082818"
SQ SEQUENCE 1406 AA; 154183 MW; F2D04D20FAA6E37D CRC64;
MALKNINYLL IFYLSFSLLI YIKNSFCNKN NTRCLSNSCQ NNSTCKDFSK DNDCSCSDTA
NNLDKDCDNM KDPCFSNPCQ GSATCVNTPG ERSFLCKCPP GYSGTICETT IGSCGKNSCQ
HGGICHQDPI YPVCICPAGY AGRFCEIDHD ECASSPCQNG AVCQDGIDGY SCFCVPGYQG
RHCDLEVDEC ASDPCKNEAT CLNEIGRYTC ICPHNYSGVN CELEIDECWS QPCLNGATCQ
DALGAYFCDC APGFLGDHCE LNTDECASQP CLHGGLCVDG ENRYSCNCTG SGFTGTHCET
LMPLCWSKPC HNNATCEDSV DNYTCHCWPG YTGAQCEIDL NECNSNPCQS NGECVELSSE
KQYGRITGLP SSFSYHEASG YVCICQPGFT GIHCEEDVNE CSSNPCQNGG TCENLPGNYT
CHCPFDNLSR TFYGGRDCSD ILLGCTHQQC LNNGTCIPHF QDGQHGFSCL CPSGYTGSLC
EIATTLSFEG DGFLWVKSGS VTTKGSVCNI ALRFQTVQPM ALLLFRSNRD VFVKLELLSG
YIHLSIQVNN QSKVLLFISH NTSDGEWHFV EVIFAEAVTL TLIDDSCKEK CIAKAPTPLE
SDQSICAFQN SFLGGLPVGM TSNGVALLNF YNMPSTPSFV GCLQDIKIDW NHITLENISS
GSSLNVKAGC VRKDWCESQP CQSRGRCINL WLSYQCDCHR PYEGPNCLRE YVAGRFGQDD
STGYVIFTLD ESYGDTISLS MFVRTLQPSG LLLALENSTY QYIRVWLERG RLAMLTPNSP
KLVVKFVLND GNVHLISLKI KPYKIELYQS SQNLGFISAS TWKIEKGDVI YIGGLPDKQE
TELNGGFFKG CIQDVRLNNQ NLEFFPNPTN NASLNPVLVN VTQGCAGDNS CKSNPCHNGG
VCHSRWDDFS CSCPALTSGK ACEEVQWCGF SPCPHGAQCQ PVLQGFECIA NAVFNGQSGQ
ILFRSNGNIT RELTNITFGF RTRDANVIIL HAEKEPEFLN ISIQDSRLFF QLQSGNSFYM
LSLTSLQSVN DGTWHEVTLS MTDPLSQTSR WQMEVDNETP FVTSTIATGS LNFLKDNTDI
YVGDRAIDNI KGLQGCLSTI EIGGIYLSYF ENVHGFINKP QEEQFLKIST NSVVTGCLQL
NVCNSNPCLH GGNCEDIYSS YHCSCPLGWS GKHCELNIDE CFSNPCIHGN CSDRVAAYHC
TCEPGYTGVN CEVDIDNCQS HQCANGATCI SHTNGYSCLC FGNFTGKFCR QSRLPSTVCG
NEKTNLTCYN GGNCTEFQTE LKCMCRPGFT GEWCEKDIDE CASDPCVNGG LCQDLLNKFQ
CLCDVAFAGE RCEVDLADDL ISDIFTTIGS VTVALLLILL LAIVASVVTS NKRATQGTYS
PSRQEKEGSR VEMWNLMPPP AMERLI
