位置:首页 > 蛋白库 > PCARE_HUMAN
PCARE_HUMAN
ID   PCARE_HUMAN             Reviewed;        1288 AA.
AC   A6NGG8;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   24-JUL-2007, sequence version 1.
DT   03-AUG-2022, entry version 108.
DE   RecName: Full=Photoreceptor cilium actin regulator {ECO:0000312|HGNC:HGNC:34383};
GN   Name=PCARE {ECO:0000312|HGNC:HGNC:34383}; Synonyms=C2orf71;
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 [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1156-1288.
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   [3]
RP   INVOLVEMENT IN RP54, VARIANT LEU-867, AND TISSUE SPECIFICITY.
RX   PubMed=20398884; DOI=10.1016/j.ajhg.2010.03.016;
RA   Collin R.W.J., Safieh C., Littink K.W., Shalev S.A., Garzozi H.J.,
RA   Rizel L., Abbasi A.H., Cremers F.P.M., den Hollander A.I., Klevering B.J.,
RA   Ben-Yosef T.;
RT   "Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.";
RL   Am. J. Hum. Genet. 86:783-788(2010).
RN   [4]
RP   FUNCTION, VARIANT RP54 PHE-201, INVOLVEMENT IN RP54, AND SUBCELLULAR
RP   LOCATION.
RX   PubMed=20398886; DOI=10.1016/j.ajhg.2010.03.005;
RA   Nishimura D.Y., Baye L.M., Perveen R., Searby C.C., Avila-Fernandez A.,
RA   Pereiro I., Ayuso C., Valverde D., Bishop P.N., Manson F.D.C., Urquhart J.,
RA   Stone E.M., Slusarski D.C., Black G.C.M., Sheffield V.C.;
RT   "Discovery and functional analysis of a retinitis pigmentosa gene,
RT   C2orf71.";
RL   Am. J. Hum. Genet. 86:686-695(2010).
RN   [5]
RP   VARIANTS RP54 CYS-320; ASN-372; PRO-612 AND ASP-615, AND VARIANTS CYS-13;
RP   LYS-227; ALA-247; ASP-252; ILE-258; ASN-312; LYS-378; ARG-421; MET-580;
RP   THR-628; PRO-648; TYR-688; VAL-792; LEU-867; SER-954; GLN-955; THR-959;
RP   ARG-1020; PRO-1089 DEL; THR-1160; GLN-1177; SER-1225 INS; SER-1247 AND
RP   LEU-1254.
RX   PubMed=21412943; DOI=10.1002/humu.21460;
RA   Audo I., Lancelot M.E., Mohand-Said S., Antonio A., Germain A., Sahel J.A.,
RA   Bhattacharya S.S., Zeitz C.;
RT   "Novel C2orf71 mutations account for approximately 1% of cases in a large
RT   French arRP cohort.";
RL   Hum. Mutat. 32:E2091-E2103(2011).
RN   [6]
RP   VARIANT ARG-1176.
RX   PubMed=28837730; DOI=10.1167/iovs.16-20941;
RA   Wang B., Liu Y., Chen S., Wu Y., Lin S., Duan Y., Zheng K., Zhang L.,
RA   Gu X., Hong W., Shao H., Zeng X., Sun B., Duan S.;
RT   "A novel potentially causative variant of NDUFAF7 revealed by mutation
RT   screening in a chinese family with pathologic myopia.";
RL   Invest. Ophthalmol. Vis. Sci. 58:4182-4192(2017).
RN   [7]
RP   VARIANT 1097-GLN--SER-1288 DEL.
RX   PubMed=24780881; DOI=10.1136/jmedgenet-2014-102287;
RA   Khateb S., Zelinger L., Mizrahi-Meissonnier L., Ayuso C., Koenekoop R.K.,
RA   Laxer U., Gross M., Banin E., Sharon D.;
RT   "A homozygous nonsense CEP250 mutation combined with a heterozygous
RT   nonsense C2orf71 mutation is associated with atypical Usher syndrome.";
RL   J. Med. Genet. 51:460-469(2014).
CC   -!- FUNCTION: Plays an essential role for normal photoreceptor cell
CC       maintenance and vision. {ECO:0000269|PubMed:20398886}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer
CC       segment {ECO:0000269|PubMed:20398886}. Photoreceptor inner segment
CC       {ECO:0000250|UniProtKB:Q6PAC4}.
CC   -!- TISSUE SPECIFICITY: Specifically expressed in retina.
CC       {ECO:0000269|PubMed:20398884}.
CC   -!- DISEASE: Retinitis pigmentosa 54 (RP54) [MIM:613428]: 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. {ECO:0000269|PubMed:20398884,
CC       ECO:0000269|PubMed:20398886, ECO:0000269|PubMed:21412943}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AC105398; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AK092250; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS42669.1; -.
DR   RefSeq; NP_001025054.1; NM_001029883.2.
DR   PDB; 7LXF; X-ray; 1.65 A; A=813-848.
DR   PDBsum; 7LXF; -.
DR   AlphaFoldDB; A6NGG8; -.
DR   SMR; A6NGG8; -.
DR   BioGRID; 132908; 6.
DR   IntAct; A6NGG8; 5.
DR   STRING; 9606.ENSP00000332809; -.
DR   iPTMnet; A6NGG8; -.
DR   PhosphoSitePlus; A6NGG8; -.
DR   BioMuta; C2orf71; -.
DR   EPD; A6NGG8; -.
DR   jPOST; A6NGG8; -.
DR   MassIVE; A6NGG8; -.
DR   PaxDb; A6NGG8; -.
DR   PeptideAtlas; A6NGG8; -.
DR   PRIDE; A6NGG8; -.
DR   ProteomicsDB; 1125; -.
DR   Antibodypedia; 62851; 37 antibodies from 12 providers.
DR   DNASU; 388939; -.
DR   Ensembl; ENST00000331664.6; ENSP00000332809.4; ENSG00000179270.7.
DR   GeneID; 388939; -.
DR   KEGG; hsa:388939; -.
DR   MANE-Select; ENST00000331664.6; ENSP00000332809.4; NM_001029883.3; NP_001025054.1.
DR   UCSC; uc002rmt.3; human.
DR   CTD; 388939; -.
DR   DisGeNET; 388939; -.
DR   GeneCards; PCARE; -.
DR   GeneReviews; PCARE; -.
DR   HGNC; HGNC:34383; PCARE.
DR   HPA; ENSG00000179270; Tissue enriched (retina).
DR   MalaCards; PCARE; -.
DR   MIM; 613425; gene.
DR   MIM; 613428; phenotype.
DR   neXtProt; NX_A6NGG8; -.
DR   OpenTargets; ENSG00000179270; -.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   PharmGKB; PA162379508; -.
DR   VEuPathDB; HostDB:ENSG00000179270; -.
DR   eggNOG; ENOG502QUWN; Eukaryota.
DR   GeneTree; ENSGT00390000002768; -.
DR   HOGENOM; CLU_007417_0_0_1; -.
DR   InParanoid; A6NGG8; -.
DR   OMA; IMPPRFP; -.
DR   OrthoDB; 268004at2759; -.
DR   PhylomeDB; A6NGG8; -.
DR   TreeFam; TF336604; -.
DR   PathwayCommons; A6NGG8; -.
DR   SignaLink; A6NGG8; -.
DR   BioGRID-ORCS; 388939; 12 hits in 1033 CRISPR screens.
DR   GenomeRNAi; 388939; -.
DR   Pharos; A6NGG8; Tbio.
DR   PRO; PR:A6NGG8; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; A6NGG8; protein.
DR   Bgee; ENSG00000179270; Expressed in apex of heart and 55 other tissues.
DR   Genevisible; A6NGG8; HS.
DR   GO; GO:0005929; C:cilium; IDA:MGI.
DR   GO; GO:0120199; C:cone photoreceptor outer segment; IEA:Ensembl.
DR   GO; GO:0001917; C:photoreceptor inner segment; IBA:GO_Central.
DR   GO; GO:0001750; C:photoreceptor outer segment; IBA:GO_Central.
DR   GO; GO:0035845; P:photoreceptor cell outer segment organization; IBA:GO_Central.
DR   GO; GO:1903546; P:protein localization to photoreceptor outer segment; IBA:GO_Central.
DR   GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR   GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR   InterPro; IPR029352; PCARE.
DR   PANTHER; PTHR22017; PTHR22017; 1.
DR   Pfam; PF15449; Retinal; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Cell projection; Ciliopathy; Cilium; Disease variant;
KW   Lipoprotein; Myristate; Palmitate; Reference proteome;
KW   Retinitis pigmentosa; Sensory transduction; Vision.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0000255"
FT   CHAIN           2..1288
FT                   /note="Photoreceptor cilium actin regulator"
FT                   /id="PRO_0000329078"
FT   REGION          78..147
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          368..401
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          423..453
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          467..527
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          563..605
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          686..707
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          813..1109
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1132..1169
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1190..1288
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        94..133
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        386..401
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        430..452
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        502..527
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        584..605
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        845..862
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        890..913
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        925..949
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1023..1039
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1052..1094
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1139..1153
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1207..1226
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1270..1288
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   LIPID           2
FT                   /note="N-myristoyl glycine"
FT                   /evidence="ECO:0000255"
FT   LIPID           3
FT                   /note="S-palmitoyl cysteine"
FT                   /evidence="ECO:0000255"
FT   VARIANT         13
FT                   /note="S -> C (in dbSNP:rs10084168)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_042646"
FT   VARIANT         201
FT                   /note="I -> F (in RP54; induces proteasomal degradation;
FT                   dbSNP:rs267606690)"
FT                   /evidence="ECO:0000269|PubMed:20398886"
FT                   /id="VAR_063395"
FT   VARIANT         227
FT                   /note="E -> K (in dbSNP:rs114057537)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065267"
FT   VARIANT         247
FT                   /note="V -> A (in dbSNP:rs77828062)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065268"
FT   VARIANT         252
FT                   /note="A -> D (in dbSNP:rs77003681)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065269"
FT   VARIANT         258
FT                   /note="R -> I (in dbSNP:rs116156338)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065270"
FT   VARIANT         312
FT                   /note="S -> N (in dbSNP:rs1572829341)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065271"
FT   VARIANT         320
FT                   /note="R -> C (in RP54; unknown pathological significance;
FT                   dbSNP:rs374283240)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065272"
FT   VARIANT         372
FT                   /note="D -> N (in RP54; dbSNP:rs201284350)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065273"
FT   VARIANT         378
FT                   /note="E -> K (in dbSNP:rs201900716)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065274"
FT   VARIANT         421
FT                   /note="K -> R (in dbSNP:rs17007544)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_042647"
FT   VARIANT         580
FT                   /note="T -> M (in dbSNP:rs10166913)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_042648"
FT   VARIANT         612
FT                   /note="L -> P (in RP54; dbSNP:rs200758183)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065275"
FT   VARIANT         615
FT                   /note="V -> D (in RP54; dbSNP:rs140776870)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065276"
FT   VARIANT         628
FT                   /note="A -> T (in dbSNP:rs571059484)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065277"
FT   VARIANT         648
FT                   /note="A -> P"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065278"
FT   VARIANT         688
FT                   /note="C -> Y (in dbSNP:rs149601594)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065279"
FT   VARIANT         792
FT                   /note="L -> V (in dbSNP:rs17744093)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_042649"
FT   VARIANT         867
FT                   /note="P -> L (in dbSNP:rs182248363)"
FT                   /evidence="ECO:0000269|PubMed:20398884,
FT                   ECO:0000269|PubMed:21412943"
FT                   /id="VAR_063396"
FT   VARIANT         954
FT                   /note="P -> S (in dbSNP:rs758883789)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065280"
FT   VARIANT         955
FT                   /note="R -> Q (in dbSNP:rs184249075)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065281"
FT   VARIANT         959
FT                   /note="A -> T (in dbSNP:rs192350796)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065282"
FT   VARIANT         1020
FT                   /note="Q -> R (in dbSNP:rs200367963)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065283"
FT   VARIANT         1089
FT                   /note="Missing"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065284"
FT   VARIANT         1097..1288
FT                   /note="Missing (probable disease-associated variant found
FT                   in a family with sensorineural hearing loss and retinal
FT                   degeneration; the retinal involvement is more severe in
FT                   double homozygotes also carrying a CEP250 truncating
FT                   variant)"
FT                   /evidence="ECO:0000269|PubMed:24780881"
FT                   /id="VAR_081751"
FT   VARIANT         1160
FT                   /note="A -> T (in dbSNP:rs766723736)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065285"
FT   VARIANT         1176
FT                   /note="Q -> R (found in patients with pathologic myopia;
FT                   unknown pathological significance; dbSNP:rs182812191)"
FT                   /evidence="ECO:0000269|PubMed:28837730"
FT                   /id="VAR_079609"
FT   VARIANT         1177
FT                   /note="R -> Q (in dbSNP:rs375826049)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065286"
FT   VARIANT         1225
FT                   /note="S -> SS"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065287"
FT   VARIANT         1247
FT                   /note="G -> S (in dbSNP:rs187333111)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_065288"
FT   VARIANT         1254
FT                   /note="P -> L (in dbSNP:rs1975713)"
FT                   /evidence="ECO:0000269|PubMed:21412943"
FT                   /id="VAR_042650"
FT   HELIX           835..838
FT                   /evidence="ECO:0007829|PDB:7LXF"
FT   HELIX           842..845
FT                   /evidence="ECO:0007829|PDB:7LXF"
SQ   SEQUENCE   1288 AA;  139655 MW;  97AC10B7AB0ED158 CRC64;
     MGCTPSHSDL VNSVAKSGIQ FLKKPKAIRP GCQGGSERGS IPLLVKNSTC YDAGEGLAEE
     QPSPRRNQTT AKGLCQLMGD PASGKRKDME GLIPGTKTSS SQLNKSQSHM AKDIPFKTQG
     SHGSQGADFS GDESEESSTQ DTSKWKRTAK CHTSSTQSHC YQTIHPAHEP EGKVDFPEPL
     VKAHQQAYTY LHSSLSKYEA ILCIIHQATQ TRELLQPMVS FLLLCFEEIS QLLGEISKDG
     EVLLQEVRED LAWPLKKREP QEQPNLLQQL LQYTVSKLQV LNGTVASLTG SFLEGSSSYL
     HSTATHLENK LSTKRNVDER LLRALRQLES LASGCGDPGV QGLPLCSEDS GIGADNESVQ
     SVDKLGKQTS WDLAPEPEEW KSVTSPHTEA RQSGHTWQQS PFCLGSGRPQ DCLLSGAPMA
     KVQPRAQDEA RSPCLSSTSP ENITSPPLKL GTSTPCDSFG IGVSVEPHLS KTSRPMDASS
     LSDSEDSSPE EEEEDKMSSM SLCAWQEKTP HSRPQSSPAD RESPFQARTR RLRSLQAQEM
     ILKMKESISE RIKFVPVPCG HQDWSEEEEG RTVVPPRPST VSGSRRAPER QTRSQSESCL
     QSHVEDPTFQ ELRRVQRDLS QKLEAFYALG AKGQGQSQEQ ILQPRAAAVW PNGTCRVSPS
     NTTSRLKASL TKNFSILPSQ DKSILQKCNP HPEDEQGKAG KLPNAIPSGE VSEAAKATDW
     NVRGCPTRTS VKKLIETFSP TESLRMLGDS KDAGASPCLR NCIMPPRFPK YTGLAPLYPK
     PQISPASGRE SLKMGIGWKP LAPIFPPLPK AEAAKSEELS CEMEGNLEHL PPPPMEVLMD
     KSFASLESPE SSKSTENSPK ETQEPGPGEA GPTRRTWASP KLRASVSPLD LLPSKSTASL
     TKPHSTGPGS GRSSCQPRKP ALDLSSPPAT SQSPEVKGGT WSQAEKATSL YRQPRKAIAW
     HHSGPPSGQN RTSESSLARP RQSRERSPPV GRKASPTRTH WVPQADKRRR SLPSSYRPAQ
     PSPSAVQTPP SPPVSPRVLS PPTTKRRTSP PHQPKLPNPP PESAPAQCKV PSPPTQHPEA
     SPPFSIPSPS PPMSPSQEHK ETRDSEDSQA VIAKVSGNTH SIFCPATSSL FEAKPPLSTA
     HPLTPPSLPP EAGGPLGNPA ECWKNSSGPW LRADSQRRAA LCALNPLPFL RRTASDRQPG
     GRPQPPTLDP TSTSYESQLG QNSSSEESPK KDTEPGSSPC SPELQGGTRR ASPPEFCVLG
     HGLQPEPRTG HIQDKSQPEA QPQQEEVS
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024