位置:首页 > 蛋白库 > EYS_HUMAN
EYS_HUMAN
ID   EYS_HUMAN               Reviewed;        3165 AA.
AC   Q5T1H1; A2RUR2; A8MVE7; B7TYK8; B7UUQ3; B7ZBE7; B7ZBE8; B7ZBR3; B9ZVD2;
AC   Q5SZM4; Q5T3C8; Q5T669; Q5TEL3; Q5TEL4; Q5VVG4; Q6UY05; Q9H557; Q9NQ15;
DT   20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT   28-JUN-2011, sequence version 5.
DT   03-AUG-2022, entry version 136.
DE   RecName: Full=Protein eyes shut homolog;
DE   AltName: Full=Epidermal growth factor-like protein 10;
DE            Short=EGF-like protein 10;
DE   AltName: Full=Epidermal growth factor-like protein 11;
DE            Short=EGF-like protein 11;
DE   AltName: Full=Protein spacemaker homolog;
DE   Flags: Precursor;
GN   Name=EYS; Synonyms=C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, SPAM;
GN   ORFNames=UNQ9424/PRO34591;
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 3), TISSUE SPECIFICITY, AND INVOLVEMENT
RP   IN RP25.
RX   PubMed=18976725; DOI=10.1016/j.ajhg.2008.10.014;
RA   Collin R.W.J., Littink K.W., Klevering B.J., van den Born L.I.,
RA   Koenekoop R.K., Zonneveld M.N., Blokland E.A.W., Strom T.M., Hoyng C.B.,
RA   den Hollander A.I., Cremers F.P.M.;
RT   "Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker
RT   that is mutated in patients with retinitis pigmentosa.";
RL   Am. J. Hum. Genet. 83:594-603(2008).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION,
RP   TISSUE SPECIFICITY, AND INVOLVEMENT IN RP25.
RX   PubMed=18836446; DOI=10.1038/ng.241;
RA   Abd El-Aziz M.M., Barragan I., O'Driscoll C.A., Goodstadt L., Prigmore E.,
RA   Borrego S., Mena M., Pieras J.I., El-Ashry M.F., Safieh L.A., Shah A.,
RA   Cheetham M.E., Carter N.P., Chakarova C., Ponting C.P., Bhattacharya S.S.,
RA   Antinolo G.;
RT   "EYS, encoding an ortholog of Drosophila spacemaker, is mutated in
RT   autosomal recessive retinitis pigmentosa.";
RL   Nat. Genet. 40:1285-1287(2008).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT MET-120.
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   [6]
RP   INVOLVEMENT IN RP25.
RX   PubMed=20696082; DOI=10.1186/1471-2350-11-121;
RA   Huang Y., Zhang J., Li C., Yang G., Liu M., Wang Q.K., Tang Z.;
RT   "Identification of a novel homozygous nonsense mutation in EYS in a Chinese
RT   family with autosomal recessive retinitis pigmentosa.";
RL   BMC Med. Genet. 11:121-121(2010).
RN   [7]
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=27737822; DOI=10.1242/bio.021584;
RA   Yu M., Liu Y., Li J., Natale B.N., Cao S., Wang D., Amack J.D., Hu H.;
RT   "Eyes shut homolog is required for maintaining the ciliary pocket and
RT   survival of photoreceptors in zebrafish.";
RL   Biol. Open 5:1662-1673(2016).
RN   [8]
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY (ISOFORMS 1; 2; 3 AND 4).
RX   PubMed=27846257; DOI=10.1371/journal.pone.0166397;
RA   Alfano G., Kruczek P.M., Shah A.Z., Kramarz B., Jeffery G., Zelhof A.C.,
RA   Bhattacharya S.S.;
RT   "EYS is a protein associated with the ciliary axoneme in rods and cones.";
RL   PLoS ONE 11:E0166397-E0166397(2016).
RN   [9]
RP   VARIANTS RP25 SER-745; ARG-1484; VAL-2017; LEU-2211; LYS-2503 AND GLU-2945,
RP   AND VARIANTS PRO-1987; ASP-2040 AND CYS-2556.
RX   PubMed=21069908; DOI=10.1002/humu.21334;
RA   Barragan I., Borrego S., Pieras J.I., Gonzalez-del Pozo M., Santoyo J.,
RA   Ayuso C., Baiget M., Millan J.M., Mena M., El-Aziz M.M., Audo I., Zeitz C.,
RA   Littink K.W., Dopazo J., Bhattacharya S.S., Antinolo G.;
RT   "Mutation spectrum of EYS in Spanish patients with autosomal recessive
RT   retinitis pigmentosa.";
RL   Hum. Mutat. 31:E1772-E1800(2010).
RN   [10]
RP   VARIANTS RP25 SER-618; SER-745; SER-1110; ARG-1176; PHE-1232; TYR-1682;
RP   GLY-1747; MET-1869; TYR-2139; PRO-2189; LEU-2211; THR-2829; TYR-2911 AND
RP   GLU-2928, AND VARIANTS GLN-94; ILE-112; MET-120; LEU-135; PHE-136; ASN-326;
RP   ASN-532; LEU-551; ARG-571; SER-631; VAL-641; ILE-834; ARG-938; LYS-1163;
RP   VAL-1263; GLU-1325; VAL-1361; GLU-1365; SER-1419; THR-1451; TRP-1515;
RP   GLY-1517; VAL-1662; ILE-1664; LEU-1739; PHE-1748; SER-1837; VAL-1873;
RP   ILE-1902; GLY-1915; PRO-1987; ALA-1993; VAL-1999; ASP-2040; SER-2151;
RP   GLN-2326; CYS-2556; ARG-2599; PRO-2757 AND ILE-2831.
RX   PubMed=20333770; DOI=10.1002/humu.21249;
RA   Audo I., Sahel J.-A., Mohand-Saied S., Lancelot M.-E., Antonio A.,
RA   Moskova-Doumanova V., Nandrot E.F., Doumanov J., Barragan I., Antinolo G.,
RA   Bhattacharya S.S., Zeitz C.;
RT   "EYS is a major gene for rod-cone dystrophies in France.";
RL   Hum. Mutat. 31:E1406-E1435(2010).
RN   [11]
RP   VARIANT ASP-2040.
RX   PubMed=26593283; DOI=10.1002/humu.22934;
RA   Zaki M.S., Heller R., Thoenes M., Nuernberg G., Stern-Schneider G.,
RA   Nuernberg P., Karnati S., Swan D., Fateen E., Nagel-Wolfrum K.,
RA   Mostafa M.I., Thiele H., Wolfrum U., Baumgart-Vogt E., Bolz H.J.;
RT   "PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with
RT   enamel dysplasia and microcephaly.";
RL   Hum. Mutat. 37:170-174(2016).
CC   -!- FUNCTION: Required to maintain the integrity of photoreceptor cells
CC       (PubMed:18836446). Specifically required for normal morphology of the
CC       photoreceptor ciliary pocket, and might thus facilitate protein
CC       trafficking between the photoreceptor inner and outer segments via the
CC       transition zone (By similarity). {ECO:0000250|UniProtKB:B8JI71,
CC       ECO:0000269|PubMed:18836446}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer
CC       segment {ECO:0000269|PubMed:27737822}. Cell projection, cilium
CC       {ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}. Cytoplasm,
CC       cytoskeleton, cilium axoneme {ECO:0000269|PubMed:27846257}. Cytoplasm,
CC       cytoskeleton, microtubule organizing center, centrosome
CC       {ECO:0000269|PubMed:27846257}. Secreted, extracellular space,
CC       extracellular matrix, interphotoreceptor matrix
CC       {ECO:0000269|PubMed:27737822}. Note=Localizes to discrete puncta at, or
CC       adjacent to, the photoreceptor connecting cilium (PubMed:27737822).
CC       Highly expressed in cone photoreceptor outer segments
CC       (PubMed:27737822). Weakly expressed in rod photoreceptor outer segments
CC       (By similarity). May localize to the cilium axoneme (PubMed:27846257).
CC       May also be secreted into the interphotoreceptor extracellular matrix
CC       (PubMed:27737822). {ECO:0000250|UniProtKB:A0A2K5V015,
CC       ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=4 {ECO:0000303|PubMed:27846257};
CC         IsoId=Q5T1H1-3; Sequence=Displayed;
CC       Name=1;
CC         IsoId=Q5T1H1-1; Sequence=VSP_036709;
CC       Name=3 {ECO:0000303|PubMed:27846257};
CC         IsoId=Q5T1H1-2; Sequence=VSP_035821, VSP_035822;
CC       Name=2 {ECO:0000303|PubMed:27846257};
CC         IsoId=Q5T1H1-4; Sequence=VSP_047161, VSP_035822;
CC   -!- TISSUE SPECIFICITY: Expressed in retina (at protein level)
CC       (PubMed:18976725, PubMed:18836446, PubMed:27737822, PubMed:27846257).
CC       Isoform 1: Detected in retina (PubMed:27846257). Isoform 2: Detected in
CC       retina (PubMed:27846257). Isoform 3: Strongly expressed in retina and
CC       testis (PubMed:27846257). Isoform 4: Strongly expressed in testis, and
CC       weakly expressed in retina (PubMed:27846257).
CC       {ECO:0000269|PubMed:18836446, ECO:0000269|PubMed:18976725,
CC       ECO:0000269|PubMed:27737822, ECO:0000269|PubMed:27846257}.
CC   -!- DISEASE: Retinitis pigmentosa 25 (RP25) [MIM:602772]: 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:18836446,
CC       ECO:0000269|PubMed:18976725, ECO:0000269|PubMed:20333770,
CC       ECO:0000269|PubMed:20696082, ECO:0000269|PubMed:21069908}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- MISCELLANEOUS: Although the protein is conserved in Drosophila, the
CC       gene encoding the orthologous protein is inactive in rodents.
CC   -!- SIMILARITY: Belongs to the EYS family. {ECO:0000305}.
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; FM209056; CAR64275.1; -; mRNA.
DR   EMBL; FJ416331; ACJ37365.1; -; mRNA.
DR   EMBL; AY358133; AAQ88500.1; -; mRNA.
DR   EMBL; AL050329; CAB99359.1; -; Genomic_DNA.
DR   EMBL; AL078597; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL109612; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL109922; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL132767; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL133322; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL137007; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL353153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL353669; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL354719; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL354913; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL355357; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL356454; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL357375; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL365217; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL450319; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL450324; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL450394; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL589916; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL590546; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL590784; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL603767; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC133011; AAI33012.1; -; mRNA.
DR   EMBL; BC133013; AAI33014.1; -; mRNA.
DR   CCDS; CCDS47445.1; -. [Q5T1H1-1]
DR   CCDS; CCDS47446.1; -. [Q5T1H1-4]
DR   CCDS; CCDS4967.1; -. [Q5T1H1-2]
DR   CCDS; CCDS78156.1; -. [Q5T1H1-3]
DR   RefSeq; NP_001136272.1; NM_001142800.1. [Q5T1H1-1]
DR   RefSeq; NP_001136273.1; NM_001142801.1. [Q5T1H1-4]
DR   RefSeq; NP_001278938.1; NM_001292009.1. [Q5T1H1-3]
DR   RefSeq; NP_938024.1; NM_198283.1. [Q5T1H1-2]
DR   BioGRID; 131371; 1.
DR   IntAct; Q5T1H1; 1.
DR   STRING; 9606.ENSP00000424243; -.
DR   GlyGen; Q5T1H1; 8 sites.
DR   iPTMnet; Q5T1H1; -.
DR   PhosphoSitePlus; Q5T1H1; -.
DR   BioMuta; EYS; -.
DR   DMDM; 338817908; -.
DR   MassIVE; Q5T1H1; -.
DR   PaxDb; Q5T1H1; -.
DR   PeptideAtlas; Q5T1H1; -.
DR   PRIDE; Q5T1H1; -.
DR   ProteomicsDB; 64092; -.
DR   ProteomicsDB; 64263; -. [Q5T1H1-3]
DR   ProteomicsDB; 64264; -. [Q5T1H1-1]
DR   ProteomicsDB; 64265; -. [Q5T1H1-2]
DR   Antibodypedia; 31174; 28 antibodies from 9 providers.
DR   DNASU; 346007; -.
DR   Ensembl; ENST00000342421.9; ENSP00000341818.5; ENSG00000188107.15. [Q5T1H1-2]
DR   Ensembl; ENST00000370621.7; ENSP00000359655.3; ENSG00000188107.15. [Q5T1H1-3]
DR   Ensembl; ENST00000393380.6; ENSP00000377042.2; ENSG00000188107.15. [Q5T1H1-4]
DR   Ensembl; ENST00000503581.6; ENSP00000424243.1; ENSG00000188107.15. [Q5T1H1-1]
DR   GeneID; 346007; -.
DR   KEGG; hsa:346007; -.
DR   MANE-Select; ENST00000503581.6; ENSP00000424243.1; NM_001142800.2; NP_001136272.1. [Q5T1H1-1]
DR   UCSC; uc003peq.4; human. [Q5T1H1-3]
DR   CTD; 346007; -.
DR   DisGeNET; 346007; -.
DR   GeneCards; EYS; -.
DR   GeneReviews; EYS; -.
DR   HGNC; HGNC:21555; EYS.
DR   HPA; ENSG00000188107; Tissue enriched (retina).
DR   MalaCards; EYS; -.
DR   MIM; 602772; phenotype.
DR   MIM; 612424; gene.
DR   neXtProt; NX_Q5T1H1; -.
DR   OpenTargets; ENSG00000188107; -.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   PharmGKB; PA164719488; -.
DR   VEuPathDB; HostDB:ENSG00000188107; -.
DR   eggNOG; KOG1217; Eukaryota.
DR   eggNOG; KOG3509; Eukaryota.
DR   GeneTree; ENSGT00940000163729; -.
DR   HOGENOM; CLU_000393_0_0_1; -.
DR   InParanoid; Q5T1H1; -.
DR   OMA; YHCSCMP; -.
DR   OrthoDB; 115967at2759; -.
DR   PhylomeDB; Q5T1H1; -.
DR   TreeFam; TF317565; -.
DR   PathwayCommons; Q5T1H1; -.
DR   SignaLink; Q5T1H1; -.
DR   BioGRID-ORCS; 346007; 18 hits in 1065 CRISPR screens.
DR   ChiTaRS; EYS; human.
DR   GenomeRNAi; 346007; -.
DR   Pharos; Q5T1H1; Tbio.
DR   PRO; PR:Q5T1H1; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; Q5T1H1; protein.
DR   Bgee; ENSG00000188107; Expressed in islet of Langerhans and 100 other tissues.
DR   ExpressionAtlas; Q5T1H1; baseline and differential.
DR   Genevisible; Q5T1H1; HS.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR   GO; GO:0033165; C:interphotoreceptor matrix; IEA:UniProtKB-SubCell.
DR   GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell.
DR   GO; GO:0001750; C:photoreceptor outer segment; IEA:UniProtKB-SubCell.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0050908; P:detection of light stimulus involved in visual perception; IMP:UniProtKB.
DR   GO; GO:0043403; P:skeletal muscle tissue regeneration; IMP:UniProtKB.
DR   CDD; cd00110; LamG; 5.
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; 10.
DR   Pfam; PF12661; hEGF; 4.
DR   Pfam; PF02210; Laminin_G_2; 5.
DR   SMART; SM00181; EGF; 28.
DR   SMART; SM00179; EGF_CA; 20.
DR   SMART; SM00282; LamG; 5.
DR   SUPFAM; SSF49899; SSF49899; 5.
DR   SUPFAM; SSF57184; SSF57184; 2.
DR   PROSITE; PS00010; ASX_HYDROXYL; 7.
DR   PROSITE; PS00022; EGF_1; 23.
DR   PROSITE; PS01186; EGF_2; 15.
DR   PROSITE; PS50026; EGF_3; 27.
DR   PROSITE; PS01187; EGF_CA; 6.
DR   PROSITE; PS50025; LAM_G_DOMAIN; 5.
PE   1: Evidence at protein level;
KW   Alternative splicing; Calcium; Cell projection; Cytoplasm; Cytoskeleton;
KW   Disease variant; Disulfide bond; EGF-like domain; Extracellular matrix;
KW   Glycoprotein; Reference proteome; Repeat; Retinitis pigmentosa; Secreted;
KW   Sensory transduction; Signal; Vision.
FT   SIGNAL          1..21
FT                   /evidence="ECO:0000255"
FT   CHAIN           22..3165
FT                   /note="Protein eyes shut homolog"
FT                   /id="PRO_0000337014"
FT   DOMAIN          170..212
FT                   /note="EGF-like 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          213..254
FT                   /note="EGF-like 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          256..292
FT                   /note="EGF-like 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          332..368
FT                   /note="EGF-like 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          370..406
FT                   /note="EGF-like 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          567..602
FT                   /note="EGF-like 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          643..679
FT                   /note="EGF-like 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          681..720
FT                   /note="EGF-like 8; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          733..769
FT                   /note="EGF-like 9; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          771..807
FT                   /note="EGF-like 10; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          809..847
FT                   /note="EGF-like 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          849..888
FT                   /note="EGF-like 12"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          890..926
FT                   /note="EGF-like 13"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          928..964
FT                   /note="EGF-like 14; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          966..1002
FT                   /note="EGF-like 15"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1004..1040
FT                   /note="EGF-like 16; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1042..1077
FT                   /note="EGF-like 17"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1079..1115
FT                   /note="EGF-like 18"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1117..1159
FT                   /note="EGF-like 19"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1161..1197
FT                   /note="EGF-like 20; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1883..2063
FT                   /note="Laminin G-like 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT   DOMAIN          2099..2140
FT                   /note="EGF-like 21"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2145..2339
FT                   /note="Laminin G-like 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT   DOMAIN          2335..2368
FT                   /note="EGF-like 22"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2371..2408
FT                   /note="EGF-like 23"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2419..2609
FT                   /note="Laminin G-like 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT   DOMAIN          2610..2646
FT                   /note="EGF-like 24"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2648..2689
FT                   /note="EGF-like 25"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2717..2895
FT                   /note="Laminin G-like 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT   DOMAIN          2896..2932
FT                   /note="EGF-like 26"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2933..2970
FT                   /note="EGF-like 27"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          2975..3165
FT                   /note="Laminin G-like 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00122"
FT   CARBOHYD        166
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        269
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        272
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        311
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        343
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        506
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        566
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        2170
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        174..189
FT                   /evidence="ECO:0000250"
FT   DISULFID        183..200
FT                   /evidence="ECO:0000250"
FT   DISULFID        202..211
FT                   /evidence="ECO:0000250"
FT   DISULFID        217..228
FT                   /evidence="ECO:0000250"
FT   DISULFID        222..242
FT                   /evidence="ECO:0000250"
FT   DISULFID        244..253
FT                   /evidence="ECO:0000250"
FT   DISULFID        260..270
FT                   /evidence="ECO:0000250"
FT   DISULFID        265..280
FT                   /evidence="ECO:0000250"
FT   DISULFID        282..291
FT                   /evidence="ECO:0000250"
FT   DISULFID        341..356
FT                   /evidence="ECO:0000250"
FT   DISULFID        358..367
FT                   /evidence="ECO:0000250"
FT   DISULFID        374..385
FT                   /evidence="ECO:0000250"
FT   DISULFID        396..405
FT                   /evidence="ECO:0000250"
FT   DISULFID        575..590
FT                   /evidence="ECO:0000250"
FT   DISULFID        592..601
FT                   /evidence="ECO:0000250"
FT   DISULFID        669..678
FT                   /evidence="ECO:0000250"
FT   DISULFID        685..696
FT                   /evidence="ECO:0000250"
FT   DISULFID        690..705
FT                   /evidence="ECO:0000250"
FT   DISULFID        707..719
FT                   /evidence="ECO:0000250"
FT   DISULFID        737..748
FT                   /evidence="ECO:0000250"
FT   DISULFID        742..757
FT                   /evidence="ECO:0000250"
FT   DISULFID        759..768
FT                   /evidence="ECO:0000250"
FT   DISULFID        775..786
FT                   /evidence="ECO:0000250"
FT   DISULFID        780..795
FT                   /evidence="ECO:0000250"
FT   DISULFID        797..806
FT                   /evidence="ECO:0000250"
FT   DISULFID        813..824
FT                   /evidence="ECO:0000250"
FT   DISULFID        818..835
FT                   /evidence="ECO:0000250"
FT   DISULFID        837..846
FT                   /evidence="ECO:0000250"
FT   DISULFID        853..866
FT                   /evidence="ECO:0000250"
FT   DISULFID        860..876
FT                   /evidence="ECO:0000250"
FT   DISULFID        878..887
FT                   /evidence="ECO:0000250"
FT   DISULFID        894..905
FT                   /evidence="ECO:0000250"
FT   DISULFID        899..914
FT                   /evidence="ECO:0000250"
FT   DISULFID        916..925
FT                   /evidence="ECO:0000250"
FT   DISULFID        932..943
FT                   /evidence="ECO:0000250"
FT   DISULFID        937..952
FT                   /evidence="ECO:0000250"
FT   DISULFID        954..963
FT                   /evidence="ECO:0000250"
FT   DISULFID        970..981
FT                   /evidence="ECO:0000250"
FT   DISULFID        975..990
FT                   /evidence="ECO:0000250"
FT   DISULFID        992..1001
FT                   /evidence="ECO:0000250"
FT   DISULFID        1008..1019
FT                   /evidence="ECO:0000250"
FT   DISULFID        1013..1028
FT                   /evidence="ECO:0000250"
FT   DISULFID        1030..1039
FT                   /evidence="ECO:0000250"
FT   DISULFID        1046..1056
FT                   /evidence="ECO:0000250"
FT   DISULFID        1051..1065
FT                   /evidence="ECO:0000250"
FT   DISULFID        1067..1076
FT                   /evidence="ECO:0000250"
FT   DISULFID        1083..1094
FT                   /evidence="ECO:0000250"
FT   DISULFID        1088..1103
FT                   /evidence="ECO:0000250"
FT   DISULFID        1105..1114
FT                   /evidence="ECO:0000250"
FT   DISULFID        1121..1137
FT                   /evidence="ECO:0000250"
FT   DISULFID        1131..1147
FT                   /evidence="ECO:0000250"
FT   DISULFID        1149..1158
FT                   /evidence="ECO:0000250"
FT   DISULFID        1165..1176
FT                   /evidence="ECO:0000250"
FT   DISULFID        1170..1185
FT                   /evidence="ECO:0000250"
FT   DISULFID        1187..1196
FT                   /evidence="ECO:0000250"
FT   DISULFID        2037..2063
FT                   /evidence="ECO:0000250"
FT   DISULFID        2103..2114
FT                   /evidence="ECO:0000250"
FT   DISULFID        2108..2128
FT                   /evidence="ECO:0000250"
FT   DISULFID        2130..2139
FT                   /evidence="ECO:0000250"
FT   DISULFID        2339..2350
FT                   /evidence="ECO:0000250"
FT   DISULFID        2344..2359
FT                   /evidence="ECO:0000250"
FT   DISULFID        2375..2386
FT                   /evidence="ECO:0000250"
FT   DISULFID        2380..2396
FT                   /evidence="ECO:0000250"
FT   DISULFID        2398..2407
FT                   /evidence="ECO:0000250"
FT   DISULFID        2576..2609
FT                   /evidence="ECO:0000250"
FT   DISULFID        2614..2625
FT                   /evidence="ECO:0000250"
FT   DISULFID        2619..2634
FT                   /evidence="ECO:0000250"
FT   DISULFID        2636..2645
FT                   /evidence="ECO:0000250"
FT   DISULFID        2652..2668
FT                   /evidence="ECO:0000250"
FT   DISULFID        2662..2677
FT                   /evidence="ECO:0000250"
FT   DISULFID        2679..2688
FT                   /evidence="ECO:0000250"
FT   DISULFID        2868..2895
FT                   /evidence="ECO:0000250"
FT   DISULFID        2900..2911
FT                   /evidence="ECO:0000250"
FT   DISULFID        2905..2920
FT                   /evidence="ECO:0000250"
FT   DISULFID        2922..2931
FT                   /evidence="ECO:0000250"
FT   DISULFID        2937..2948
FT                   /evidence="ECO:0000250"
FT   DISULFID        2942..2958
FT                   /evidence="ECO:0000250"
FT   DISULFID        2960..2969
FT                   /evidence="ECO:0000250"
FT   VAR_SEQ         590..594
FT                   /note="CSCSL -> RILNTVIPHQIQQHIERFIQHDQVGFIVRI (in isoform
FT                   2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_047161"
FT   VAR_SEQ         590..594
FT                   /note="CSCSL -> YLCII (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:12975309,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_035821"
FT   VAR_SEQ         595..3165
FT                   /note="Missing (in isoform 2 and isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:12975309,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_035822"
FT   VAR_SEQ         2691..2711
FT                   /note="Missing (in isoform 1)"
FT                   /evidence="ECO:0000303|PubMed:18836446"
FT                   /id="VSP_036709"
FT   VARIANT         94
FT                   /note="P -> Q (in dbSNP:rs111947397)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063437"
FT   VARIANT         112
FT                   /note="V -> I (in dbSNP:rs112609906)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063438"
FT   VARIANT         120
FT                   /note="T -> M (in dbSNP:rs12193967)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:20333770"
FT                   /id="VAR_035301"
FT   VARIANT         135
FT                   /note="T -> L (requires 2 nucleotide substitutions)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063439"
FT   VARIANT         136
FT                   /note="V -> F (in dbSNP:rs543011021)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063440"
FT   VARIANT         326
FT                   /note="S -> N (in dbSNP:rs112822256)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063441"
FT   VARIANT         532
FT                   /note="K -> N (in dbSNP:rs61753611)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063442"
FT   VARIANT         551
FT                   /note="R -> L"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063443"
FT   VARIANT         571
FT                   /note="Q -> R (in dbSNP:rs61753610)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063444"
FT   VARIANT         618
FT                   /note="G -> S (in RP25; dbSNP:rs142450703)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063445"
FT   VARIANT         631
FT                   /note="G -> S (in dbSNP:rs9342464)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063446"
FT   VARIANT         641
FT                   /note="E -> V (in dbSNP:rs17411795)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063447"
FT   VARIANT         745
FT                   /note="N -> S (in RP25; unknown pathological significance;
FT                   dbSNP:rs201652272)"
FT                   /evidence="ECO:0000269|PubMed:20333770,
FT                   ECO:0000269|PubMed:21069908"
FT                   /id="VAR_063448"
FT   VARIANT         834
FT                   /note="V -> I (in dbSNP:rs112464110)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063449"
FT   VARIANT         852
FT                   /note="L -> P (in dbSNP:rs9294631)"
FT                   /id="VAR_043561"
FT   VARIANT         938
FT                   /note="K -> R (in dbSNP:rs367857088)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063450"
FT   VARIANT         1110
FT                   /note="T -> S (in RP25; dbSNP:rs143327210)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063451"
FT   VARIANT         1163
FT                   /note="N -> K (in dbSNP:rs150951106)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063452"
FT   VARIANT         1176
FT                   /note="C -> R (in RP25)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063453"
FT   VARIANT         1232
FT                   /note="I -> F (in RP25; dbSNP:rs190009374)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063454"
FT   VARIANT         1263
FT                   /note="I -> V (in dbSNP:rs17404123)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063455"
FT   VARIANT         1325
FT                   /note="Q -> E (in dbSNP:rs12663622)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063456"
FT   VARIANT         1361
FT                   /note="I -> V (in dbSNP:rs17403955)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063457"
FT   VARIANT         1365
FT                   /note="K -> E (in dbSNP:rs16895519)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063458"
FT   VARIANT         1419
FT                   /note="L -> S (in dbSNP:rs624851)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063459"
FT   VARIANT         1451
FT                   /note="I -> T (in dbSNP:rs62415828)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063460"
FT   VARIANT         1484
FT                   /note="W -> R (in RP25; dbSNP:rs1260400598)"
FT                   /evidence="ECO:0000269|PubMed:21069908"
FT                   /id="VAR_064417"
FT   VARIANT         1515
FT                   /note="R -> W (in dbSNP:rs62415827)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063461"
FT   VARIANT         1517
FT                   /note="S -> G (in dbSNP:rs62415826)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063462"
FT   VARIANT         1662
FT                   /note="D -> V (in dbSNP:rs147641443)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063463"
FT   VARIANT         1664
FT                   /note="T -> I (in dbSNP:rs561830314)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063464"
FT   VARIANT         1682
FT                   /note="D -> Y (in RP25; dbSNP:rs75831552)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063465"
FT   VARIANT         1739
FT                   /note="P -> L"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063466"
FT   VARIANT         1747
FT                   /note="E -> G (in RP25; dbSNP:rs535663619)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063467"
FT   VARIANT         1748
FT                   /note="L -> F (in dbSNP:rs57312007)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063468"
FT   VARIANT         1837
FT                   /note="W -> S (in dbSNP:rs199689193)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063469"
FT   VARIANT         1869
FT                   /note="L -> M (in RP25)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063470"
FT   VARIANT         1873
FT                   /note="L -> V (in dbSNP:rs16895517)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063471"
FT   VARIANT         1902
FT                   /note="N -> I (in dbSNP:rs9353806)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063472"
FT   VARIANT         1915
FT                   /note="S -> G (in dbSNP:rs188093810)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063473"
FT   VARIANT         1987
FT                   /note="T -> P (in dbSNP:rs1278246029)"
FT                   /evidence="ECO:0000269|PubMed:20333770,
FT                   ECO:0000269|PubMed:21069908"
FT                   /id="VAR_063474"
FT   VARIANT         1993
FT                   /note="T -> A (in dbSNP:rs115066356)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063475"
FT   VARIANT         1999
FT                   /note="I -> V (in dbSNP:rs893294562)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063476"
FT   VARIANT         2017
FT                   /note="G -> V (in RP25; dbSNP:rs868349465)"
FT                   /evidence="ECO:0000269|PubMed:21069908"
FT                   /id="VAR_064418"
FT   VARIANT         2040
FT                   /note="V -> D (in dbSNP:rs201580493)"
FT                   /evidence="ECO:0000269|PubMed:20333770,
FT                   ECO:0000269|PubMed:21069908, ECO:0000269|PubMed:26593283"
FT                   /id="VAR_063477"
FT   VARIANT         2139
FT                   /note="C -> Y (in RP25; dbSNP:rs749909863)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063478"
FT   VARIANT         2151
FT                   /note="N -> S (in dbSNP:rs141603172)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063479"
FT   VARIANT         2189
FT                   /note="L -> P (in RP25)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063480"
FT   VARIANT         2211
FT                   /note="S -> L (in RP25; unknown pathological significance;
FT                   dbSNP:rs145623359)"
FT                   /evidence="ECO:0000269|PubMed:20333770,
FT                   ECO:0000269|PubMed:21069908"
FT                   /id="VAR_063481"
FT   VARIANT         2326
FT                   /note="R -> Q (in dbSNP:rs4710457)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063482"
FT   VARIANT         2503
FT                   /note="E -> K (in RP25; dbSNP:rs768964978)"
FT                   /evidence="ECO:0000269|PubMed:21069908"
FT                   /id="VAR_064419"
FT   VARIANT         2556
FT                   /note="S -> C (in dbSNP:rs66462731)"
FT                   /evidence="ECO:0000269|PubMed:20333770,
FT                   ECO:0000269|PubMed:21069908"
FT                   /id="VAR_063483"
FT   VARIANT         2599
FT                   /note="H -> R (in dbSNP:rs74636274)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063484"
FT   VARIANT         2757
FT                   /note="A -> P (in dbSNP:rs1250317776)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063485"
FT   VARIANT         2829
FT                   /note="A -> T (in RP25; dbSNP:rs111991705)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063486"
FT   VARIANT         2831
FT                   /note="T -> I (in dbSNP:rs144513453)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063487"
FT   VARIANT         2911
FT                   /note="C -> Y (in RP25)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063488"
FT   VARIANT         2928
FT                   /note="G -> E (in RP25)"
FT                   /evidence="ECO:0000269|PubMed:20333770"
FT                   /id="VAR_063489"
FT   VARIANT         2945
FT                   /note="Q -> E (in RP25)"
FT                   /evidence="ECO:0000269|PubMed:21069908"
FT                   /id="VAR_064420"
FT   CONFLICT        652
FT                   /note="C -> R (in Ref. 1; CAR64275)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1056
FT                   /note="C -> Y (in Ref. 1; CAR64275)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1183
FT                   /note="Y -> H (in Ref. 1; CAR64275)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1922
FT                   /note="Y -> H (in Ref. 1; CAR64275)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2441
FT                   /note="H -> R (in Ref. 1; CAR64275)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2466
FT                   /note="G -> E (in Ref. 1; CAR64275)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   3165 AA;  350796 MW;  71119473EA872B00 CRC64;
     MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
     GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
     EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
     EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
     ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
     LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
     IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
     NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
     WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
     CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
     CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
     LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
     CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
     KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
     YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
     DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
     PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
     DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
     NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
     PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
     ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
     YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
     SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
     GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
     QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
     ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
     MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
     VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
     SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
     DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
     ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
     TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
     LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
     PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
     IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
     SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
     LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
     NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
     FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA
     HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
     GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
     LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
     QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
     QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
     KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
     PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH
     LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL
     DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ
     LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN
     LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
     TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF
     CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV
     TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024