RP1L1_HUMAN
ID RP1L1_HUMAN Reviewed; 2400 AA.
AC Q8IWN7; A6NKC6; Q86SQ1; Q8IWN8; Q8IWN9; Q8IWP0; Q8IWP1; Q8IWP2;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 5.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Retinitis pigmentosa 1-like 1 protein;
GN Name=RP1L1;
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] (ALLELES RP1L1-1; RP1L1-2; RP1L1-3; RP1L1-4;
RP RP1L1-5 AND RP1L1-6; ISOFORM 1), VARIANTS PRO-792; TRP-1146; SER-1285;
RP GLY-1319; SER-1467; GLU-1946; ALA-1954; LYS-2171 AND GLY-2242, AND
RP POLYMORPHISM.
RX PubMed=12724644;
RA Bowne S.J., Daiger S.P., Malone K.A., Heckenlively J.R., Kennan A.,
RA Humphries P., Hughbanks-Wheaton D., Birch D.G., Liu Q., Pierce E.A.,
RA Zuo J., Huang Q., Donovan D.D., Sullivan L.S.;
RT "Characterization of RP1L1, a highly polymorphic paralog of the retinitis
RT pigmentosa 1 (RP1) gene.";
RL Mol. Vis. 9:129-137(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ALLELE RP1L1-5; ISOFORM 1), AND VARIANTS
RP SER-514 AND GLY-1319.
RC TISSUE=Retina;
RX PubMed=12634863; DOI=10.1038/sj.ejhg.5200942;
RA Conte I., Lestingi M., den Hollander A., Alfano G., Ziviello C.,
RA Pugliese M., Circolo D., Caccioppoli C., Ciccodicola A., Banfi S.;
RT "Identification and characterization of the retinitis pigmentosa 1-like1
RT gene (rp1l1): a novel candidate for retinal degenerations.";
RL Eur. J. Hum. Genet. 11:155-162(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Colon;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP INVOLVEMENT IN OCMD, AND VARIANTS OCMD TRP-45 AND ARG-960.
RX PubMed=20826268; DOI=10.1016/j.ajhg.2010.08.009;
RA Akahori M., Tsunoda K., Miyake Y., Fukuda Y., Ishiura H., Tsuji S.,
RA Usui T., Hatase T., Nakamura M., Ohde H., Itabashi T., Okamoto H.,
RA Takada Y., Iwata T.;
RT "Dominant mutations in RP1L1 are responsible for occult macular
RT dystrophy.";
RL Am. J. Hum. Genet. 87:424-429(2010).
RN [6]
RP INVOLVEMENT IN RP88.
RX PubMed=31833436; DOI=10.1080/13816810.2019.1703014;
RA Albarry M.A., Hashmi J.A., Alreheli A.Q., Albalawi A.M., Khan B.,
RA Ramzan K., Basit S.;
RT "Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in
RT retinitis pigmentosa patients.";
RL Ophthalmic Genet. 40:507-513(2019).
RN [7]
RP VARIANT OCMD CYS-1199.
RX PubMed=22605915;
RA Kabuto T., Takahashi H., Goto-Fukuura Y., Igarashi T., Akahori M.,
RA Kameya S., Iwata T., Mizota A., Yamaki K., Miyake Y., Takahashi H.;
RT "A new mutation in the RP1L1 gene in a patient with occult macular
RT dystrophy associated with a depolarizing pattern of focal macular
RT electroretinograms.";
RL Mol. Vis. 18:1031-1039(2012).
RN [8]
RP VARIANTS OCMD TRP-45; HIS-950 AND ASP-1200, AND VARIANTS RP88 GLN-152;
RP 369-TRP--PHE-2400 DEL; 1008-GLN--PHE-2400 DEL AND 1987-GLN--PHE-2400 DEL.
RX PubMed=30025130; DOI=10.1167/iovs.18-24033;
RA Zobor D., Zobor G., Hipp S., Baumann B., Weisschuh N., Biskup S.,
RA Sliesoraityte I., Zrenner E., Kohl S.;
RT "Phenotype variations caused by mutations in the RP1L1 gene in a large
RT mainly German cohort.";
RL Invest. Ophthalmol. Vis. Sci. 59:3041-3052(2018).
RN [9]
RP VARIANTS RP88 HIS-19 AND 1824-GLN--PHE-2400 DEL.
RX PubMed=31236346; DOI=10.18240/ijo.2019.06.06;
RA Hu Y.S., Song H., Li Y., Xiao Z.Y., Li T.;
RT "Whole-exome sequencing identifies novel mutations in genes responsible for
RT retinitis pigmentosa in 2 nonconsanguineous Chinese families.";
RL Int. J. Ophthalmol. 12:915-923(2019).
CC -!- FUNCTION: Required for the differentiation of photoreceptor cells.
CC Plays a role in the organization of outer segment of rod and cone
CC photoreceptors (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with RP1; has a synergistic effect with RP1 in
CC photoreceptor differentiation. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme. Cell
CC projection, cilium, photoreceptor outer segment {ECO:0000250}.
CC Note=Localized to the axoneme of outer segments and connecting cilia in
CC rod photoreceptors. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IWN7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IWN7-2; Sequence=VSP_009382, VSP_009383;
CC -!- TISSUE SPECIFICITY: Retinal-specific; expressed in photoreceptor.
CC -!- DOMAIN: The C-terminal part contains a large repetitive region which
CC contains an unusually high percentage of glutamine, glycine and above
CC all glutamic acid residues.
CC -!- POLYMORPHISM: The exact length of RP1L1 is variable between individuals
CC due to the presence of several length polymorphisms. The sequence shown
CC here is that of allele RP1L1-1 and includes 3 repeats (from aa 1292-
CC 1342) with a length of 16 amino acids. The number of repeats is highly
CC polymorphic and varies among different alleles, ranging from 3 to 8.
CC {ECO:0000269|PubMed:12724644}.
CC -!- DISEASE: Occult macular dystrophy (OCMD) [MIM:613587]: An inherited
CC macular dystrophy characterized by progressive loss of macular function
CC but normal ophthalmoscopic appearance. It is typically characterized by
CC a central cone dysfunction leading to a loss of vision despite normal
CC ophthalmoscopic appearance, normal fluorescein angiography, and normal
CC full-field electroretinogram (ERGs), but the amplitudes of the focal
CC macular ERGs and multifocal ERGs are significantly reduced at the
CC central retina. {ECO:0000269|PubMed:20826268,
CC ECO:0000269|PubMed:22605915, ECO:0000269|PubMed:30025130}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Retinitis pigmentosa 88 (RP88) [MIM:618826]: A form of
CC retinitis pigmentosa, a retinal dystrophy belonging to the group of
CC pigmentary retinopathies. Retinitis pigmentosa is characterized by
CC retinal pigment deposits visible on fundus examination and primary loss
CC of rod photoreceptor cells followed by secondary loss of cone
CC photoreceptors. Patients typically have night vision blindness and loss
CC of midperipheral visual field. RP88 is an autosomal recessive form.
CC {ECO:0000269|PubMed:30025130, ECO:0000269|PubMed:31236346,
CC ECO:0000269|PubMed:31833436}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; AY168341; AAN86959.1; -; mRNA.
DR EMBL; AY168342; AAN86960.1; -; mRNA.
DR EMBL; AY168343; AAN86961.1; -; mRNA.
DR EMBL; AY168344; AAN86962.1; -; mRNA.
DR EMBL; AY168345; AAN86963.1; -; mRNA.
DR EMBL; AY168346; AAN86964.1; -; mRNA.
DR EMBL; AJ491324; CAD36957.1; -; mRNA.
DR EMBL; AK127545; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC104964; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105001; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43708.1; -. [Q8IWN7-1]
DR RefSeq; NP_849188.4; NM_178857.5. [Q8IWN7-1]
DR AlphaFoldDB; Q8IWN7; -.
DR SMR; Q8IWN7; -.
DR IntAct; Q8IWN7; 4.
DR MINT; Q8IWN7; -.
DR STRING; 9606.ENSP00000371923; -.
DR GlyGen; Q8IWN7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IWN7; -.
DR MetOSite; Q8IWN7; -.
DR PhosphoSitePlus; Q8IWN7; -.
DR BioMuta; RP1L1; -.
DR DMDM; 317373543; -.
DR jPOST; Q8IWN7; -.
DR MassIVE; Q8IWN7; -.
DR PaxDb; Q8IWN7; -.
DR PeptideAtlas; Q8IWN7; -.
DR PRIDE; Q8IWN7; -.
DR ProteomicsDB; 1400; -.
DR ProteomicsDB; 70874; -. [Q8IWN7-1]
DR ProteomicsDB; 70875; -. [Q8IWN7-2]
DR Antibodypedia; 77523; 8 antibodies from 4 providers.
DR DNASU; 94137; -.
DR Ensembl; ENST00000382483.4; ENSP00000371923.3; ENSG00000183638.6. [Q8IWN7-1]
DR GeneID; 94137; -.
DR KEGG; hsa:94137; -.
DR MANE-Select; ENST00000382483.4; ENSP00000371923.3; NM_178857.6; NP_849188.4.
DR CTD; 94137; -.
DR DisGeNET; 94137; -.
DR GeneCards; RP1L1; -.
DR HGNC; HGNC:15946; RP1L1.
DR HPA; ENSG00000183638; Tissue enriched (retina).
DR MalaCards; RP1L1; -.
DR MIM; 608581; gene.
DR MIM; 613587; phenotype.
DR MIM; 618826; phenotype.
DR neXtProt; NX_Q8IWN7; -.
DR OpenTargets; ENSG00000183638; -.
DR Orphanet; 247834; Occult macular dystrophy.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA34640; -.
DR VEuPathDB; HostDB:ENSG00000183638; -.
DR eggNOG; KOG3757; Eukaryota.
DR GeneTree; ENSGT00940000154242; -.
DR InParanoid; Q8IWN7; -.
DR OMA; SVPCAMD; -.
DR OrthoDB; 79495at2759; -.
DR PhylomeDB; Q8IWN7; -.
DR TreeFam; TF318770; -.
DR PathwayCommons; Q8IWN7; -.
DR SignaLink; Q8IWN7; -.
DR BioGRID-ORCS; 94137; 10 hits in 1066 CRISPR screens.
DR ChiTaRS; RP1L1; human.
DR GenomeRNAi; 94137; -.
DR Pharos; Q8IWN7; Tbio.
DR PRO; PR:Q8IWN7; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8IWN7; protein.
DR Bgee; ENSG00000183638; Expressed in pigmented layer of retina and 21 other tissues.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
DR GO; GO:0001750; C:photoreceptor outer segment; ISS:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; IBA:GO_Central.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:InterPro.
DR GO; GO:0042461; P:photoreceptor cell development; ISS:UniProtKB.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:BHF-UCL.
DR GO; GO:0060041; P:retina development in camera-type eye; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR Gene3D; 3.10.20.230; -; 2.
DR InterPro; IPR003533; Doublecortin_dom.
DR InterPro; IPR036572; Doublecortin_dom_sf.
DR InterPro; IPR040163; RP1/RP1L1/DCX.
DR PANTHER; PTHR23005; PTHR23005; 3.
DR Pfam; PF03607; DCX; 2.
DR SMART; SM00537; DCX; 2.
DR SUPFAM; SSF89837; SSF89837; 2.
DR PROSITE; PS50309; DC; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Disease variant; Microtubule; Reference proteome; Repeat;
KW Retinitis pigmentosa; Sensory transduction; Vision.
FT CHAIN 1..2400
FT /note="Retinitis pigmentosa 1-like 1 protein"
FT /id="PRO_0000097406"
FT DOMAIN 34..118
FT /note="Doublecortin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00072"
FT DOMAIN 152..231
FT /note="Doublecortin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00072"
FT REPEAT 1292..1307
FT /note="1-1; approximate"
FT REPEAT 1310..1326
FT /note="1-2; approximate"
FT REPEAT 1327..1342
FT /note="1-3"
FT REPEAT 1836..1851
FT /note="2-1"
FT REPEAT 1852..1867
FT /note="2-2"
FT REPEAT 1875..1890
FT /note="2-3"
FT REPEAT 1891..1906
FT /note="2-4; approximate"
FT REPEAT 1907..1921
FT /note="2-5"
FT REPEAT 1923..1938
FT /note="2-6; approximate"
FT REPEAT 1939..1954
FT /note="2-7"
FT REPEAT 1955..1970
FT /note="2-8; approximate"
FT REPEAT 1971..1984
FT /note="2-9; approximate"
FT REPEAT 1985..2000
FT /note="2-10"
FT REPEAT 2001..2016
FT /note="2-11"
FT REPEAT 2017..2031
FT /note="2-12; approximate"
FT REPEAT 2033..2048
FT /note="2-13d"
FT REPEAT 2056..2071
FT /note="2-14"
FT REPEAT 2072..2085
FT /note="2-15; approximate"
FT REPEAT 2086..2101
FT /note="2-16"
FT REPEAT 2102..2116
FT /note="2-17"
FT REPEAT 2117..2132
FT /note="2-18"
FT REPEAT 2133..2148
FT /note="2-19"
FT REPEAT 2149..2164
FT /note="2-20"
FT REPEAT 2165..2180
FT /note="2-21"
FT REPEAT 2181..2196
FT /note="2-22"
FT REPEAT 2197..2212
FT /note="2-23"
FT REPEAT 2213..2228
FT /note="2-24"
FT REPEAT 2229..2244
FT /note="2-25"
FT REGION 104..152
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 230..310
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 444..1064
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1188..1251
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1275..1501
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1292..1342
FT /note="3 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-
FT E-E-G-V-Q-L-E-E-T-K"
FT REGION 1697..2400
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1836..2244
FT /note="25 X 16 AA approximate tandem repeats of [ED]-[AT]-
FT [PQ]-[ED]-[AVT]-E-[GKE]-[ED]-[AMT]-Q-[EPK]-[EAT]-[TSELP]-
FT [EG]-[EGSQDI]-[AVIE]"
FT COILED 1934..2017
FT /evidence="ECO:0000255"
FT COILED 2054..2081
FT /evidence="ECO:0000255"
FT COMPBIAS 238..267
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 271..291
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 447..465
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 528..546
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 579..603
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 619..653
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 701..746
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 774..788
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 825..839
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 865..893
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 903..921
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 937..951
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1188..1212
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1227..1251
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1300..1344
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1345..1365
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1389..1403
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1456..1472
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1487..1501
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1744..1779
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1836..1905
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1906..1920
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1921..1946
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1961..2020
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2025..2050
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2052..2071
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2086..2104
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2105..2119
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2121..2241
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2248..2272
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2273..2287
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2288..2312
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 205..222
FT /note="DSLQALLHSPSVLVCAGH -> LPDMKFHQRSAEWRMEVD (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009382"
FT VAR_SEQ 223..2400
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009383"
FT VARIANT 19
FT /note="P -> H (in RP88; unknown pathological significance;
FT dbSNP:rs748984657)"
FT /evidence="ECO:0000269|PubMed:31236346"
FT /id="VAR_083926"
FT VARIANT 44
FT /note="P -> A (in dbSNP:rs140397694)"
FT /id="VAR_017700"
FT VARIANT 45
FT /note="R -> W (in OCMD; dbSNP:rs267607017)"
FT /evidence="ECO:0000269|PubMed:20826268,
FT ECO:0000269|PubMed:30025130"
FT /id="VAR_065126"
FT VARIANT 56
FT /note="R -> C (in dbSNP:rs150931842)"
FT /id="VAR_017701"
FT VARIANT 112
FT /note="T -> S (in dbSNP:rs6601495)"
FT /id="VAR_017702"
FT VARIANT 136
FT /note="R -> H (in dbSNP:rs189960401)"
FT /id="VAR_017703"
FT VARIANT 152
FT /note="R -> Q (in RP88; unknown pathological significance;
FT dbSNP:rs200213603)"
FT /evidence="ECO:0000269|PubMed:30025130"
FT /id="VAR_083927"
FT VARIANT 222
FT /note="H -> P (in dbSNP:rs4388421)"
FT /id="VAR_056979"
FT VARIANT 369..2400
FT /note="Missing (in RP88; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30025130"
FT /id="VAR_083928"
FT VARIANT 487
FT /note="A -> V (in dbSNP:rs74400517)"
FT /id="VAR_017704"
FT VARIANT 514
FT /note="G -> S (in dbSNP:rs74990397)"
FT /evidence="ECO:0000269|PubMed:12634863"
FT /id="VAR_080211"
FT VARIANT 624
FT /note="A -> T (in dbSNP:rs141846905)"
FT /id="VAR_017705"
FT VARIANT 792
FT /note="L -> P (in dbSNP:rs35602868)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017706"
FT VARIANT 795
FT /note="E -> K (in dbSNP:rs199746022)"
FT /id="VAR_017707"
FT VARIANT 860
FT /note="R -> W (in dbSNP:rs62490856)"
FT /id="VAR_017708"
FT VARIANT 950
FT /note="R -> H (in OCMD; unknown pathological significance;
FT dbSNP:rs201968725)"
FT /evidence="ECO:0000269|PubMed:30025130"
FT /id="VAR_083929"
FT VARIANT 960
FT /note="W -> R (in OCMD; dbSNP:rs267607018)"
FT /evidence="ECO:0000269|PubMed:20826268"
FT /id="VAR_065127"
FT VARIANT 1008..2400
FT /note="Missing (in RP88; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30025130"
FT /id="VAR_083930"
FT VARIANT 1146
FT /note="R -> W (in dbSNP:rs4840502)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017709"
FT VARIANT 1199
FT /note="S -> C (in OCMD; unknown pathological significance;
FT dbSNP:rs863225442)"
FT /evidence="ECO:0000269|PubMed:22605915"
FT /id="VAR_068350"
FT VARIANT 1200
FT /note="G -> D (in OCMD; unknown pathological significance;
FT dbSNP:rs964723839)"
FT /evidence="ECO:0000269|PubMed:30025130"
FT /id="VAR_083931"
FT VARIANT 1285
FT /note="A -> S (in allele RP1L1-3)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017710"
FT VARIANT 1313
FT /note="E -> EGVQLEETKTEEGLQEE (in allele RP1L1-2)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_080215"
FT VARIANT 1313
FT /note="E -> EGVQLEETKTEEGLQEEGVQLEETKTEEGLQEE (in allele
FT RP1L1-3)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_080212"
FT VARIANT 1313
FT /note="E -> EGVQLEETKTEEGLQEEGVQLEETKTEEGLQEEGVQLEETKTEEGLQ
FT EE (in allele RP1L1-4)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_080216"
FT VARIANT 1313
FT /note="E -> EGVQLEETKTEEGLQEEGVQLEETKTEEGLQEEGVQLEETKTEEGLQ
FT EEGVQLEETKTEEGLQEE (in allele RP1L1-5)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_080214"
FT VARIANT 1313
FT /note="E -> EGVQLEETKTEEGLQEEGVQLEETKTEEGLQEEGVQLEETKTEEGLQ
FT EEGVQLEETKTEEGLQEEGVQLEETKTEEGLQEE (in allele RP1L1-6)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_080213"
FT VARIANT 1319
FT /note="A -> G (in dbSNP:rs4840501)"
FT /evidence="ECO:0000269|PubMed:12634863,
FT ECO:0000269|PubMed:12724644"
FT /id="VAR_080217"
FT VARIANT 1324
FT /note="E -> G (in allele RP1L1-3; dbSNP:rs4240659)"
FT /id="VAR_017712"
FT VARIANT 1327..1328
FT /note="TE -> VI (in allele RP1L1-3; dbSNP:rs386722178)"
FT /id="VAR_017713"
FT VARIANT 1335
FT /note="G -> R (in allele RP1L1-2 and allele RP1L1-3;
FT dbSNP:rs61503212)"
FT /id="VAR_017715"
FT VARIANT 1467
FT /note="R -> S (in dbSNP:rs4840498)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_047388"
FT VARIANT 1483
FT /note="A -> V (in dbSNP:rs62490855)"
FT /id="VAR_017721"
FT VARIANT 1495
FT /note="P -> R (in dbSNP:rs4841399)"
FT /id="VAR_017722"
FT VARIANT 1505
FT /note="S -> L (in dbSNP:rs202068070)"
FT /id="VAR_017723"
FT VARIANT 1578
FT /note="K -> KK"
FT /id="VAR_017724"
FT VARIANT 1709
FT /note="A -> V (in dbSNP:rs13267180)"
FT /id="VAR_017725"
FT VARIANT 1816
FT /note="G -> D (in dbSNP:rs79019225)"
FT /id="VAR_017726"
FT VARIANT 1824..2400
FT /note="Missing (in RP88; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31236346"
FT /id="VAR_083932"
FT VARIANT 1862..1868
FT /note="Missing"
FT /id="VAR_017727"
FT VARIANT 1889
FT /note="D -> V (in dbSNP:rs28446662)"
FT /id="VAR_017728"
FT VARIANT 1946
FT /note="A -> E (in dbSNP:rs11785822)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017729"
FT VARIANT 1954
FT /note="T -> A (in dbSNP:rs11783478)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017730"
FT VARIANT 1987..2400
FT /note="Missing (in RP88; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30025130"
FT /id="VAR_083933"
FT VARIANT 2069
FT /note="G -> V"
FT /id="VAR_017731"
FT VARIANT 2088
FT /note="Q -> H (in dbSNP:rs11778341)"
FT /id="VAR_017732"
FT VARIANT 2091
FT /note="E -> K (in dbSNP:rs1182974647)"
FT /id="VAR_056981"
FT VARIANT 2140
FT /note="E -> K (in dbSNP:rs72494282)"
FT /id="VAR_017733"
FT VARIANT 2171
FT /note="E -> K (in dbSNP:rs4354268)"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017734"
FT VARIANT 2199
FT /note="P -> L (in dbSNP:rs75797924)"
FT /id="VAR_017735"
FT VARIANT 2242
FT /note="E -> G"
FT /evidence="ECO:0000269|PubMed:12724644"
FT /id="VAR_017736"
FT VARIANT 2285
FT /note="G -> R (in dbSNP:rs55642448)"
FT /id="VAR_017737"
FT VARIANT 2335
FT /note="H -> R (in dbSNP:rs117007660)"
FT /id="VAR_017738"
SQ SEQUENCE 2400 AA; 252289 MW; C3E01F19DDB6D04E CRC64;
MNSTPRNAQA PSHRECFLPS VARTPSVTKV TPAKKITFLK RGDPRFAGVR LAVHQRAFKT
FSALMDELSQ RVPLSFGVRS VTTPRGLHSL SALEQLEDGG CYLCSDKKPP KTPSGPGRPQ
ERNPTAQQLR DVEGQREAPG TSSSRKSLKT PRRILLIKNM DPRLQQTVVL SHRNTRNLAA
FLGKASDLLR FPVKQLYTTS GKKVDSLQAL LHSPSVLVCA GHEAFRTPAM KNARRSEAET
LSGLTSRNKN GSWGPKTKPS VIHSRSPPGS TPRLPERPGP SNPPVGPAPG RHPQDTPAQS
GPLVAGDDMK KKVRMNEDGS LSVEMKVRFH LVGEDTLLWS RRMGRASALT AASGEDPVLG
EVDPLCCVWE GYPWGFSEPG VWGPRPCRVG CREVFGRGGQ PGPKYEIWTN PLHASQGERV
AARKRWGLAQ HVRCSGLWGH GTAGRERCSQ DSASPASSTG LPEGSEPESS CCPRTPEDGV
DSASPSAQIG AERKAGGSLG EDPGLCIDGA GLGGPEQGGR LTPRARSEEG ASSDSSASTG
SHEGSSEWGG RPQGCPGKAR AETSQQEASE GGDPASPALS LSSLRSDDLQ AETQGQGTEQ
ATGAAVTREP LVLGLSCSWD SEGASSTPST CTSSQQGQRR HRSRASAMSS PSSPGLGRVA
PRGHPRHSHY RKDTHSPLDS SVTKQVPRPP ERRRACQDGS VPRYSGSSSS TRTQASGNLR
PPSSGSLPSQ DLLGTSSATV TPAVHSDFVS GVSPHNAPSA GWAGDAGSRT CSPAPIPPHT
SDSCSKSGAA SLGEEARDTP QPSSPLVLQV GRPEQGAVGP HRSHCCSQPG TQPAQEAQRG
PSPEASWLCG RYCPTPPRGR PCPQRRSSSC GSTGSSHQST ARGPGGSPQE GTRQPGPTPS
PGPNSGASRR SSASQGAGSR GLSEEKTLRS GGGPQGQEEA SGVSPSSLPR SSPEAVVREW
LDNIPEEPIL MTYELADETT GAAGGGLRGP EVDPGDDHSL EGLGEPAQAG QQSLEGDPGQ
DPEPEGALLG SSDTGPQSGE GVPQGAAPEG VSEAPAEAGA DREAPAGCRV SLRALPGRVS
ASTQIMRALM GSKQGRPSSV PEVSRPMARR LSCSAGALIT CLASLQLFEE DLGSPASKVR
FKDSPRYQEL LSISKDLWPG CDVGEDQLDS GLWELTWSQA LPDLGSHAMT ENFTPTSSSG
VDISSGSGGS GESSVPCAMD GTLVTQGTEL PLKTSNQRPD SRTYESPGDL ENQQQCCFPT
FLNARACACA TNEDEAERDS EEQRASSNLE QLAENTVQEE VQLEETKEGT EGEGLQEEAV
QLEETKTEEG LQEEGVQLEE TKETEGEGQQ EEEAQLEEIE ETGGEGLQEE GVQLEEVKEG
PEGGLQGEAL EEGLKEEGLP EEGSVHGQEL SEASSPDGKG SQEDDPVQEE EAGRASASAE
PCPAEGTEEP TEPPSHLSET DPSASERQSG SQLEPGLEKP PGATMMGQEH TQAQPTQGAA
ERSSSVACSA ALDCDPIWVS VLLKKTEKAF LAHLASAVAE LRARWGLQDN DLLDQMAAEL
QQDVAQRLQD STKRELQKLQ GRAGRMVLEP PREALTGELL LQTQQRRHRL RGLRNLSAFS
ERTLGLGPLS FTLEDEPALS TALGSQLGEE AEGEEFCPCE ACVRKKVSPM SPKATMGATR
GPIKEAFDLQ QILQRKRGEH TDGEAAEVAP GKTHTDPTST RTVQGAEGGL GPGLSQGPGV
DEGEDGEGSQ RLNRDKDPKL GEAEGDAMAQ EREGKTHNSE TSAGSELGEA EQEGEGISER
GETGGQGSGH EDNLQGEAAA GGDQDPGQSD GAEGIEAPEA EGEAQPESEG VEAPEAEGDA
QEAEGEAQPE SEDVEAPEAE GEAQPESEDV ETPEAEWEVQ PESEGAEAPE AEKEAQPETE
SVEALETEGE DEPESEGAEA QEAEEAAQEA EGQTQPESEV IESQEAEEEA QPESEDVEAL
EVEVETQEAE GEAQPESEDV EAPEAEGEMQ EAEEEAQPES DGVEAQPKSE GEEAQEVEGE
TQKTEGDAQP ESDGVEAPEA EEEAQEAEGE VQEAEGEAHP ESEDVDAQEA EGEAQPESEG
VEAPEAEGEA QKAEGIEAPE TEGEAQPESE GIEAPEAEGE AQPESEGVEA QDAEGEAQPE
SEGIEAQEAE EEAQPELEGV EAPEAEGEAQ PESEGIEAPE AEGEAQPELE GVEAPEAEEE
AQPEPEGVET PEAEGEAQPE SEGETQGEKK GSPQVSLGDG QSEEASESSS PVPEDRPTPP
PSPGGDTPHQ RPGSQTGPSS SRASSWGNCW QKDSENDHVL GDTRSPDAKS TGTPHAERKA
TRMYPESSTS EQEEAPLGSR TPEQGASEGY DLQEDQALGS LAPTEAVGRA DGFGQDDLDF
