ID   RET3_HUMAN              Reviewed;        1247 AA.
AC   P10745; Q0QD34; Q5VSR0; Q8IXN0;
DT   01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1991, sequence version 2.
DT   24-JAN-2024, entry version 197.
DE   RecName: Full=Retinol-binding protein 3;
DE   AltName: Full=Interphotoreceptor retinoid-binding protein;
DE            Short=IRBP;
DE   AltName: Full=Interstitial retinol-binding protein;
DE   Flags: Precursor;
GN   Name=RBP3;
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 [GENOMIC DNA].
RX   PubMed=2542268; DOI=10.1016/s0021-9258(18)83169-6;
RA   Liou G.I., Ma D.-P., Yang Y.-W., Geng L., Zhu C., Baehr W.;
RT   "Human interstitial retinoid-binding protein. Gene structure and primary
RT   structure.";
RL   J. Biol. Chem. 264:8200-8206(1989).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX   PubMed=2303470; DOI=10.1016/s0021-9258(19)39642-5;
RA   Fong S.-L., Fong W.B., Morris T.A., Kedzie K.M., Bridges C.D.B.;
RT   "Characterization and comparative structural features of the gene for human
RT   interstitial retinol-binding protein.";
RL   J. Biol. Chem. 265:3648-3653(1990).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   PubMed=2792773; DOI=10.1016/0378-1119(89)90254-0;
RA   Si J.S., Borst D.E., Redmond T.M., Nickerson J.M.;
RT   "Cloning of cDNAs encoding human interphotoreceptor retinoid-binding
RT   protein (IRBP) and comparison with bovine IRBP sequences.";
RL   Gene 80:99-108(1989).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX   PubMed=3170584; DOI=10.1016/s0021-9258(19)37592-1;
RA   Fong S.-L., Bridges C.D.B.;
RT   "Internal quadruplication in the structure of human interstitial retinol-
RT   binding protein deduced from its cloned cDNA.";
RL   J. Biol. Chem. 263:15330-15334(1988).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Retinoblastoma;
RX   PubMed=21697133; DOI=10.1167/iovs.11-7479;
RA   Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S.,
RA   Usami R., Ohtoko K., Kato S.;
RT   "Full-length transcriptome analysis of human retina-derived cell lines
RT   ARPE-19 and Y79 using the vector-capping method.";
RL   Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164054; DOI=10.1038/nature02462;
RA   Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA   Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA   Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA   Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA   Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA   Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA   Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA   Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA   Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA   Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA   Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA   Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA   McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA   Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA   Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA   Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA   Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA   Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA   Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA   Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA   Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 10.";
RL   Nature 429:375-381(2004).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Eye;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [9]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 2-1247.
RX   PubMed=3455009; DOI=10.1007/bf01534925;
RA   Liou G.I., Fong S.-L., Gosden J., van Tuinen P., Ledbetter D.H.,
RA   Christie S., Rout D., Bhattacharya S., Cook R.G., Li Y., Wang C.,
RA   Bridges C.D.B.;
RT   "Human interstitial retinol-binding protein (IRBP): cloning, partial
RT   sequence, and chromosomal localization.";
RL   Somat. Cell Mol. Genet. 13:315-323(1987).
RN   [10]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-382.
RX   PubMed=2402443; DOI=10.1093/nar/18.17.5181;
RA   Albini A., Toffenetti J., Zhen Z., Chader G.J., Noonan D.M.;
RT   "Hypomethylation of the interphotoreceptor retinoid-binding protein (IRBP)
RT   promotor and first exon is linked to expression of the gene.";
RL   Nucleic Acids Res. 18:5181-5187(1990).
RN   [11]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-10.
RC   TISSUE=Retina;
RX   PubMed=17286855; DOI=10.1186/1471-2164-8-42;
RA   Roni V., Carpio R., Wissinger B.;
RT   "Mapping of transcription start sites of human retina expressed genes.";
RL   BMC Genomics 8:42-42(2007).
RN   [12]
RP   PROTEIN SEQUENCE OF 18-42.
RX   PubMed=3827838; DOI=10.1042/bj2400019;
RA   Redmond T.M., Wiggert B., Robey F.A., Chader G.J.;
RT   "Interspecies conservation of structure of interphotoreceptor retinoid-
RT   binding protein. Similarities and differences as adjudged by peptide
RT   mapping and N-terminal sequencing.";
RL   Biochem. J. 240:19-26(1986).
RN   [13]
RP   PROTEIN SEQUENCE OF 23-39.
RX   PubMed=3743780; DOI=10.1016/0014-5793(86)80918-8;
RA   Fong S.-L., Cook R.G., Alvarez R.A., Liou G.I., Landers R.A.,
RA   Bridges C.D.B.;
RT   "N-terminal sequence homologies in interstitial retinol-binding proteins
RT   from 10 vertebrate species.";
RL   FEBS Lett. 205:309-312(1986).
RN   [14]
RP   VARIANT [LARGE SCALE ANALYSIS] HIS-530.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
RN   [15]
RP   VARIANT RP66 ASN-1080, AND VARIANTS VAL-18; HIS-122; MET-155; PRO-163;
RP   MET-196; GLN-267; MET-282; ILE-321; THR-325; HIS-346; THR-379; LEU-433;
RP   SER-443; LEU-505; ARG-518; GLN-523; CYS-535; HIS-544; ALA-593; VAL-599;
RP   ASN-614; VAL-615; ILE-675; VAL-688; MET-693; LEU-723; SER-741; CYS-747;
RP   LYS-785; CYS-833; SER-835; MET-884; ARG-903; ARG-921; LYS-956; ILE-963;
RP   TYR-1021; ILE-1059 AND MET-1194.
RX   PubMed=19074801; DOI=10.1167/iovs.08-2497;
RA   den Hollander A.I., McGee T.L., Ziviello C., Banfi S., Dryja T.P.,
RA   Gonzalez-Fernandez F., Ghosh D., Berson E.L.;
RT   "A homozygous missense mutation in the IRBP gene (RBP3) associated with
RT   autosomal recessive retinitis pigmentosa.";
RL   Invest. Ophthalmol. Vis. Sci. 50:1864-1872(2009).
RN   [16]
RP   CHARACTERIZATION OF VARIANT RP66 ASN-1080.
RX   PubMed=23486466; DOI=10.1074/jbc.m112.418251;
RA   Li S., Yang Z., Hu J., Gordon W.C., Bazan N.G., Haas A.L., Bok D., Jin M.;
RT   "Secretory defect and cytotoxicity: the potential disease mechanisms for
RT   the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-
RT   binding protein (IRBP).";
RL   J. Biol. Chem. 288:11395-11406(2013).
CC   -!- FUNCTION: IRBP shuttles 11-cis and all trans retinoids between the
CC       retinol isomerase in the pigment epithelium and the visual pigments in
CC       the photoreceptor cells of the retina.
CC   -!- INTERACTION:
CC       P10745; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-12806054, EBI-396137;
CC       P10745; Q02930-3: CREB5; NbExp=3; IntAct=EBI-12806054, EBI-10192698;
CC       P10745; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12806054, EBI-3867333;
CC       P10745; O95967: EFEMP2; NbExp=3; IntAct=EBI-12806054, EBI-743414;
CC       P10745; P49639: HOXA1; NbExp=3; IntAct=EBI-12806054, EBI-740785;
CC       P10745; O43593: HR; NbExp=3; IntAct=EBI-12806054, EBI-2880706;
CC       P10745; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-12806054, EBI-3918847;
CC       P10745; Q5T749: KPRP; NbExp=3; IntAct=EBI-12806054, EBI-10981970;
CC       P10745; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-12806054, EBI-10172150;
CC       P10745; Q8IV28: NID2; NbExp=3; IntAct=EBI-12806054, EBI-10261509;
CC       P10745; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-12806054, EBI-769257;
CC       P10745; Q12837: POU4F2; NbExp=3; IntAct=EBI-12806054, EBI-17236143;
CC       P10745; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-12806054, EBI-11959123;
CC   -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC       matrix, interphotoreceptor matrix. Note=Interphotoreceptor matrix that
CC       permeates the space between the retina and the contiguous layer of
CC       pigment epithelium cells.
CC   -!- DISEASE: Retinitis pigmentosa 66 (RP66) [MIM:615233]: 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:19074801,
CC       ECO:0000269|PubMed:23486466}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the peptidase S41A family. {ECO:0000305}.
CC   -!- CAUTION: It is uncertain whether Met-1 or Met-2 is the initiator.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAC18875.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; M33875; AAA59453.1; -; Genomic_DNA.
DR   EMBL; M33864; AAA59453.1; JOINED; Genomic_DNA.
DR   EMBL; M33865; AAA59453.1; JOINED; Genomic_DNA.
DR   EMBL; M33866; AAA59453.1; JOINED; Genomic_DNA.
DR   EMBL; M22453; AAA36126.1; -; mRNA.
DR   EMBL; J05253; AAC18875.1; ALT_INIT; Genomic_DNA.
DR   EMBL; AB593121; BAJ84061.1; -; mRNA.
DR   EMBL; AL731561; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471251; EAW50659.1; -; Genomic_DNA.
DR   EMBL; BC039844; AAH39844.1; -; mRNA.
DR   EMBL; J03912; AAA59188.1; -; mRNA.
DR   EMBL; X53044; CAA37213.1; -; Genomic_DNA.
DR   EMBL; DQ426897; ABD90548.1; -; mRNA.
DR   CCDS; CCDS73119.1; -.
DR   PIR; A33812; A33812.
DR   RefSeq; NP_002891.1; NM_002900.2.
DR   AlphaFoldDB; P10745; -.
DR   SMR; P10745; -.
DR   BioGRID; 111883; 17.
DR   IntAct; P10745; 15.
DR   STRING; 9606.ENSP00000463151; -.
DR   DrugBank; DB06755; Beta carotene.
DR   DrugBank; DB11948; Lapachone.
DR   DrugBank; DB00162; Vitamin A.
DR   DrugCentral; P10745; -.
DR   MEROPS; S41.950; -.
DR   MEROPS; S41.951; -.
DR   GlyCosmos; P10745; 2 sites, No reported glycans.
DR   GlyGen; P10745; 2 sites.
DR   iPTMnet; P10745; -.
DR   PhosphoSitePlus; P10745; -.
DR   BioMuta; RBP3; -.
DR   DMDM; 124894; -.
DR   EPD; P10745; -.
DR   jPOST; P10745; -.
DR   MassIVE; P10745; -.
DR   PaxDb; 9606-ENSP00000463151; -.
DR   PeptideAtlas; P10745; -.
DR   ProteomicsDB; 52643; -.
DR   Antibodypedia; 72614; 247 antibodies from 25 providers.
DR   DNASU; 5949; -.
DR   Ensembl; ENST00000584701.2; ENSP00000463151.1; ENSG00000265203.2.
DR   GeneID; 5949; -.
DR   KEGG; hsa:5949; -.
DR   MANE-Select; ENST00000584701.2; ENSP00000463151.1; NM_002900.3; NP_002891.1.
DR   UCSC; uc001jez.3; human.
DR   AGR; HGNC:9921; -.
DR   CTD; 5949; -.
DR   DisGeNET; 5949; -.
DR   GeneCards; RBP3; -.
DR   GeneReviews; RBP3; -.
DR   HGNC; HGNC:9921; RBP3.
DR   HPA; ENSG00000265203; Tissue enriched (retina).
DR   MalaCards; RBP3; -.
DR   MIM; 180290; gene.
DR   MIM; 615233; phenotype.
DR   neXtProt; NX_P10745; -.
DR   OpenTargets; ENSG00000265203; -.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   PharmGKB; PA34288; -.
DR   VEuPathDB; HostDB:ENSG00000265203; -.
DR   eggNOG; ENOG502QW81; Eukaryota.
DR   GeneTree; ENSGT00390000014726; -.
DR   HOGENOM; CLU_279077_0_0_1; -.
DR   InParanoid; P10745; -.
DR   OMA; VHKVWEP; -.
DR   OrthoDB; 4157989at2759; -.
DR   PhylomeDB; P10745; -.
DR   TreeFam; TF332253; -.
DR   BioCyc; MetaCyc:ENSG00000107618-MONOMER; -.
DR   PathwayCommons; P10745; -.
DR   Reactome; R-HSA-2187335; The retinoid cycle in cones (daylight vision).
DR   Reactome; R-HSA-2453902; The canonical retinoid cycle in rods (twilight vision).
DR   SignaLink; P10745; -.
DR   SIGNOR; P10745; -.
DR   BioGRID-ORCS; 5949; 25 hits in 1137 CRISPR screens.
DR   ChiTaRS; RBP3; human.
DR   GeneWiki; RBP3; -.
DR   GenomeRNAi; 5949; -.
DR   Pharos; P10745; Tbio.
DR   PRO; PR:P10745; -.
DR   Proteomes; UP000005640; Chromosome 10.
DR   RNAct; P10745; Protein.
DR   Bgee; ENSG00000265203; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 28 other cell types or tissues.
DR   GO; GO:0090658; C:cone matrix sheath; IBA:GO_Central.
DR   GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR   GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR   GO; GO:1903561; C:extracellular vesicle; HDA:UniProtKB.
DR   GO; GO:0016918; F:retinal binding; IEA:UniProtKB-KW.
DR   GO; GO:0005501; F:retinoid binding; TAS:Reactome.
DR   GO; GO:0019841; F:retinol binding; IBA:GO_Central.
DR   GO; GO:0008236; F:serine-type peptidase activity; IEA:InterPro.
DR   GO; GO:0006629; P:lipid metabolic process; TAS:ProtInc.
DR   GO; GO:0006508; P:proteolysis; IEA:InterPro.
DR   GO; GO:0001523; P:retinoid metabolic process; TAS:Reactome.
DR   GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR   CDD; cd07563; Peptidase_S41_IRBP; 4.
DR   Gene3D; 3.30.750.44; -; 4.
DR   InterPro; IPR029045; ClpP/crotonase-like_dom_sf.
DR   InterPro; IPR005151; Tail-specific_protease.
DR   PANTHER; PTHR11261; INTERPHOTORECEPTOR RETINOID-BINDING PROTEIN; 1.
DR   PANTHER; PTHR11261:SF3; RETINOL-BINDING PROTEIN 3; 1.
DR   Pfam; PF03572; Peptidase_S41; 4.
DR   Pfam; PF11918; Peptidase_S41_N; 4.
DR   SMART; SM00245; TSPc; 4.
DR   SUPFAM; SSF52096; ClpP/crotonase; 4.
DR   Genevisible; P10745; HS.
PE   1: Evidence at protein level;
KW   Direct protein sequencing; Disease variant; Extracellular matrix;
KW   Glycoprotein; Reference proteome; Repeat; Retinitis pigmentosa; Secreted;
KW   Signal; Transport; Vitamin A.
FT   SIGNAL          1..17
FT                   /evidence="ECO:0000269|PubMed:3827838"
FT   CHAIN           18..1247
FT                   /note="Retinol-binding protein 3"
FT                   /id="PRO_0000021523"
FT   REPEAT          18..320
FT                   /note="1"
FT   REPEAT          321..630
FT                   /note="2"
FT   REPEAT          631..931
FT                   /note="3"
FT   REPEAT          932..1230
FT                   /note="4"
FT   REGION          18..1230
FT                   /note="4 X approximate tandem repeats"
FT   REGION          391..413
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        205
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        515
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VARIANT         18
FT                   /note="G -> V (in dbSNP:rs864621997)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069669"
FT   VARIANT         122
FT                   /note="R -> H (in dbSNP:rs41302693)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069670"
FT   VARIANT         155
FT                   /note="V -> M (in dbSNP:rs782157576)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069671"
FT   VARIANT         163
FT                   /note="S -> P (in dbSNP:rs35686775)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069672"
FT   VARIANT         196
FT                   /note="V -> M (in dbSNP:rs782398712)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069673"
FT   VARIANT         267
FT                   /note="R -> Q (in dbSNP:rs200239015)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069674"
FT   VARIANT         282
FT                   /note="V -> M (in dbSNP:rs782095820)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069675"
FT   VARIANT         321
FT                   /note="T -> I (in dbSNP:rs376854254)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069676"
FT   VARIANT         325
FT                   /note="A -> T (in dbSNP:rs368898051)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069677"
FT   VARIANT         346
FT                   /note="R -> H (in dbSNP:rs111245635)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069678"
FT   VARIANT         379
FT                   /note="A -> T (in dbSNP:rs781840247)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069679"
FT   VARIANT         433
FT                   /note="S -> L (in dbSNP:rs375761633)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069680"
FT   VARIANT         443
FT                   /note="R -> S (in dbSNP:rs864621999)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069681"
FT   VARIANT         505
FT                   /note="H -> L (in dbSNP:rs201808774)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069682"
FT   VARIANT         518
FT                   /note="Q -> R (in dbSNP:rs563600593)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069683"
FT   VARIANT         523
FT                   /note="H -> Q (in dbSNP:rs148093336)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069684"
FT   VARIANT         530
FT                   /note="R -> H (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs1354470616)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035929"
FT   VARIANT         535
FT                   /note="R -> C (in dbSNP:rs143632019)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069685"
FT   VARIANT         544
FT                   /note="R -> H (in dbSNP:rs41284962)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069686"
FT   VARIANT         593
FT                   /note="V -> A (in dbSNP:rs782233167)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069687"
FT   VARIANT         599
FT                   /note="I -> V (in dbSNP:rs144289912)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069688"
FT   VARIANT         614
FT                   /note="D -> N (in dbSNP:rs149642039)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069689"
FT   VARIANT         615
FT                   /note="A -> V (in dbSNP:rs368920246)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069690"
FT   VARIANT         675
FT                   /note="T -> I (in dbSNP:rs864622000)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069691"
FT   VARIANT         688
FT                   /note="A -> V (in dbSNP:rs200168559)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069692"
FT   VARIANT         693
FT                   /note="V -> M (in dbSNP:rs112888313)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069693"
FT   VARIANT         723
FT                   /note="P -> L (in dbSNP:rs148247227)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069694"
FT   VARIANT         741
FT                   /note="G -> S (in dbSNP:rs143110000)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069695"
FT   VARIANT         747
FT                   /note="R -> C (in dbSNP:rs782664364)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069696"
FT   VARIANT         785
FT                   /note="N -> K (in dbSNP:rs864622001)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069697"
FT   VARIANT         833
FT                   /note="R -> C (in dbSNP:rs142945423)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069698"
FT   VARIANT         835
FT                   /note="G -> S (in dbSNP:rs782480179)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069699"
FT   VARIANT         884
FT                   /note="V -> M (in dbSNP:rs11204213)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_051315"
FT   VARIANT         903
FT                   /note="T -> R (in dbSNP:rs373766942)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069700"
FT   VARIANT         921
FT                   /note="S -> R (in dbSNP:rs548622709)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069701"
FT   VARIANT         956
FT                   /note="E -> K (in dbSNP:rs781847641)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069702"
FT   VARIANT         963
FT                   /note="T -> I (in dbSNP:rs200706310)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069703"
FT   VARIANT         1021
FT                   /note="S -> Y (in dbSNP:rs148591757)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069704"
FT   VARIANT         1059
FT                   /note="V -> I (in dbSNP:rs864622002)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069705"
FT   VARIANT         1080
FT                   /note="D -> N (in RP66; abolishes secretion; results in
FT                   mis-folded insoluble complexes degraded via the
FT                   ER-associated protein catabolic process;
FT                   dbSNP:rs146150511)"
FT                   /evidence="ECO:0000269|PubMed:19074801,
FT                   ECO:0000269|PubMed:23486466"
FT                   /id="VAR_069706"
FT   VARIANT         1194
FT                   /note="T -> M (in dbSNP:rs782099994)"
FT                   /evidence="ECO:0000269|PubMed:19074801"
FT                   /id="VAR_069707"
FT   CONFLICT        757
FT                   /note="V -> G (in Ref. 5; BAJ84061 and 8; AAH39844)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1247 AA;  135363 MW;  6C1841411E012E0F CRC64;
     MMREWVLLMS VLLCGLAGPT HLFQPSLVLD MAKVLLDNYC FPENLLGMQE AIQQAIKSHE
     ILSISDPQTL ASVLTAGVQS SLNDPRLVIS YEPSTPEPPP QVPALTSLSE EELLAWLQRG
     LRHEVLEGNV GYLRVDSVPG QEVLSMMGEF LVAHVWGNLM GTSALVLDLR HCTGGQVSGI
     PYIISYLHPG NTILHVDTIY NRPSNTTTEI WTLPQVLGER YGADKDVVVL TSSQTRGVAE
     DIAHILKQMR RAIVVGERTG GGALDLRKLR IGESDFFFTV PVSRSLGPLG GGSQTWEGSG
     VLPCVGTPAE QALEKALAIL TLRSALPGVV HCLQEVLKDY YTLVDRVPTL LQHLASMDFS
     TVVSEEDLVT KLNAGLQAAS EDPRLLVRAI GPTETPSWPA PDAAAEDSPG VAPELPEDEA
     IRQALVDSVF QVSVLPGNVG YLRFDSFADA SVLGVLAPYV LRQVWEPLQD TEHLIMDLRH
     NPGGPSSAVP LLLSYFQGPE AGPVHLFTTY DRRTNITQEH FSHMELPGPR YSTQRGVYLL
     TSHRTATAAE EFAFLMQSLG WATLVGEITA GNLLHTRTVP LLDTPEGSLA LTVPVLTFID
     NHGEAWLGGG VVPDAIVLAE EALDKAQEVL EFHQSLGALV EGTGHLLEAH YARPEVVGQT
     SALLRAKLAQ GAYRTAVDLE SLASQLTADL QEVSGDHRLL VFHSPGELVV EEAPPPPPAV
     PSPEELTYLI EALFKTEVLP GQLGYLRFDA MAELETVKAV GPQLVRLVWQ QLVDTAALVI
     DLRYNPGSYS TAIPLLCSYF FEAEPRQHLY SVFDRATSKV TEVWTLPQVA GQRYGSHKDL
     YILMSHTSGS AAEAFAHTMQ DLQRATVIGE PTAGGALSVG IYQVGSSPLY ASMPTQMAMS
     ATTGKAWDLA GVEPDITVPM SEALSIAQDI VALRAKVPTV LQTAGKLVAD NYASAELGAK
     MATKLSGLQS RYSRVTSEVA LAEILGADLQ MLSGDPHLKA AHIPENAKDR IPGIVPMQIP
     SPEVFEELIK FSFHTNVLED NIGYLRFDMF GDGELLTQVS RLLVEHIWKK IMHTDAMIID
     MRFNIGGPTS SIPILCSYFF DEGPPVLLDK IYSRPDDSVS ELWTHAQVVG ERYGSKKSMV
     ILTSSVTAGT AEEFTYIMKR LGRALVIGEV TSGGCQPPQT YHVDDTNLYL TIPTARSVGA
     SDGSSWEGVG VTPHVVVPAE EALARAKEML QHNQLRVKRS PGLQDHL
//