S45A2_HUMAN
ID S45A2_HUMAN Reviewed; 530 AA.
AC Q9UMX9; Q6P2P0; Q9BTM3;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Membrane-associated transporter protein;
DE AltName: Full=Melanoma antigen AIM1;
DE Short=Protein AIM-1;
DE AltName: Full=Solute carrier family 45 member 2;
GN Name=SLC45A2; Synonyms=AIM1, MATP;
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 1), AND VARIANT PHE-374.
RC TISSUE=Melanoma;
RX PubMed=11221837;
RA Harada M., Li Y.F., El-Gamil M., Rosenberg S.A., Robbins P.F.;
RT "Use of an in vitro immunoselected tumor line to identify shared melanoma
RT antigens recognized by HLA-A*0201-restricted T cells.";
RL Cancer Res. 61:1089-1094(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), AND VARIANT
RP PHE-374.
RC TISSUE=Skin;
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 [4]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J.,
RA Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S.,
RA Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
RN [5]
RP VARIANT PHE-374, AND INVOLVEMENT IN OCA4.
RX PubMed=11574907; DOI=10.1086/324340;
RA Newton J.M., Cohen-Barak O., Hagiwara N., Gardner J.M., Davisson M.T.,
RA King R.A., Brilliant M.H.;
RT "Mutations in the human orthologue of the mouse underwhite gene (uw)
RT underlie a new form of oculocutaneous albinism, OCA4.";
RL Am. J. Hum. Genet. 69:981-988(2001).
RN [6]
RP VARIANTS OCA4 SER-58; ASN-157 AND VAL-188, AND VARIANTS LYS-272; PRO-500
RP AND LEU-507.
RX PubMed=14961451; DOI=10.1086/382195;
RA Inagaki K., Suzuki T., Shimizu H., Ishii N., Umezawa Y., Tada J.,
RA Kikuchi N., Takata M., Takamori K., Kishibe M., Tanaka M., Miyamura Y.,
RA Ito S., Tomita Y.;
RT "Oculocutaneous albinism type 4 is one of the most common types of albinism
RT in Japan.";
RL Am. J. Hum. Genet. 74:466-471(2004).
RN [7]
RP VARIANTS OCA4 ALA-58; CYS-202; PHE-221 DEL; CYS-317; PRO-361; THR-477 AND
RP VAL-486, AND VARIANTS LYS-272 AND PHE-374.
RX PubMed=14722913; DOI=10.1002/humu.10311;
RA Rundshagen U., Zuehlke C., Opitz S., Schwinger E., Kaesmann-Kellner B.;
RT "Mutations in the MATP gene in five German patients affected by
RT oculocutaneous albinism type 4.";
RL Hum. Mutat. 23:106-110(2004).
RN [8]
RP VARIANTS LYS-272; PHE-374 AND LEU-507.
RX PubMed=15455243; DOI=10.1007/s00414-004-0490-z;
RA Yuasa I., Umetsu K., Watanabe G., Nakamura H., Endoh M., Irizawa Y.;
RT "MATP polymorphisms in Germans and Japanese: the L374F mutation as a
RT population marker for Caucasoids.";
RL Int. J. Legal Med. 118:364-366(2004).
RN [9]
RP VARIANT OCA4 ASN-157.
RX PubMed=15656822; DOI=10.1111/j.1365-2133.2005.06403.x;
RA Suzuki T., Inagaki K., Fukai K., Obana A., Lee S.-T., Tomita Y.;
RT "A Korean case of oculocutaneous albinism type IV caused by a D157N
RT mutation in the MATP gene.";
RL Br. J. Dermatol. 152:174-175(2005).
RN [10]
RP VARIANTS LYS-272 AND PHE-374.
RX PubMed=15714523; DOI=10.1002/humu.20143;
RA Graf J., Hodgson R., van Daal A.;
RT "Single nucleotide polymorphisms in the MATP gene are associated with
RT normal human pigmentation variation.";
RL Hum. Mutat. 25:278-284(2005).
RN [11]
RP VARIANT PHE-374.
RX PubMed=17044855; DOI=10.1111/j.1469-1809.2006.00261.x;
RA Yuasa I., Umetsu K., Harihara S., Kido A., Miyoshi A., Saitou N.,
RA Dashnyam B., Jin F., Lucotte G., Chattopadhyay P.K., Henke L., Henke J.;
RT "Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-
RT haplotype analysis.";
RL Ann. Hum. Genet. 70:802-811(2006).
RN [12]
RP VARIANT PHE-374, AND ASSOCIATION WITH SHEP5.
RX PubMed=17999355; DOI=10.1086/522235;
RA Stokowski R.P., Pant P.V.K., Dadd T., Fereday A., Hinds D.A., Jarman C.,
RA Filsell W., Ginger R.S., Green M.R., van der Ouderaa F.J., Cox D.R.;
RT "A genomewide association study of skin pigmentation in a South Asian
RT population.";
RL Am. J. Hum. Genet. 81:1119-1132(2007).
RN [13]
RP VARIANTS OCA4 ILE-42; SER-64; ASN-157; SER-302 AND CYS-348, AND VARIANTS
RP LYS-272 AND PHE-374.
RX PubMed=17768386;
RA Sengupta M., Chaki M., Arti N., Ray K.;
RT "SLC45A2 variations in Indian oculocutaneous albinism patients.";
RL Mol. Vis. 13:1406-1411(2007).
RN [14]
RP VARIANTS LYS-272 AND PHE-374, ASSOCIATION WITH SHEP5, AND INVOLVEMENT IN
RP SUSCEPTIBILITY TO MELANOMA.
RX PubMed=18683857; DOI=10.1002/humu.20823;
RA Guedj M., Bourillon A., Combadieres C., Rodero M., Dieude P., Descamps V.,
RA Dupin N., Wolkenstein P., Aegerter P., Lebbe C., Basset-Seguin N., Prum B.,
RA Saiag P., Grandchamp B., Soufir N., Saiag P., Lebbe C., Basset Seguin N.,
RA Wolkenstein P., Dupin N., Descamps V., Verola O., Aegerter P., Soufir N.;
RT "Variants of the MATP/SLC45A2 gene are protective for melanoma in the
RT French population.";
RL Hum. Mutat. 29:1154-1160(2008).
RN [15]
RP VARIANT PHE-374, ASSOCIATION WITH SHEP5, AND INVOLVEMENT IN SUSCEPTIBILITY
RP TO MELANOMA.
RX PubMed=18563784; DOI=10.1002/humu.20804;
RA Fernandez L.P., Milne R.L., Pita G., Aviles J.A., Lazaro P., Benitez J.,
RA Ribas G.;
RT "SLC45A2: a novel malignant melanoma-associated gene.";
RL Hum. Mutat. 29:1161-1167(2008).
RN [16]
RP VARIANTS OCA4 ARG-110; PRO-151; ASN-157; HIS-160; GLN-233; ARG-349; LYS-368
RP AND LEU-418.
RX PubMed=19865097; DOI=10.1038/jid.2009.339;
RA Wei A., Wang Y., Long Y., Wang Y., Guo X., Zhou Z., Zhu W., Liu J.,
RA Bian X., Lian S., Li W.;
RT "A comprehensive analysis reveals mutational spectra and common alleles in
RT Chinese patients with oculocutaneous albinism.";
RL J. Invest. Dermatol. 130:716-724(2010).
RN [17]
RP VARIANT OCA4 ARG-60.
RX PubMed=23504663; DOI=10.1002/humu.22315;
RA Simeonov D.R., Wang X., Wang C., Sergeev Y., Dolinska M., Bower M.,
RA Fischer R., Winer D., Dubrovsky G., Balog J.Z., Huizing M., Hart R.,
RA Zein W.M., Gahl W.A., Brooks B.P., Adams D.R.;
RT "DNA variations in oculocutaneous albinism: an updated mutation list and
RT current outstanding issues in molecular diagnostics.";
RL Hum. Mutat. 34:827-835(2013).
RN [18]
RP VARIANT LYS-272.
RX PubMed=25703744; DOI=10.1111/ced.12612;
RA Shah S.A., Raheem N., Daud S., Mubeen J., Shaikh A.A., Baloch A.H.,
RA Nadeem A., Tayyab M., Babar M.E., Ahmad J.;
RT "Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families
RT with oculocutaneous albinism, and potential founder effect of missense
RT substitution (p.Arg77Gln) of tyrosinase.";
RL Clin. Exp. Dermatol. 40:774-780(2015).
CC -!- FUNCTION: Melanocyte differentiation antigen. May transport substances
CC required for melanin biosynthesis (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Melanosome membrane
CC {ECO:0000269|PubMed:17081065}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:17081065}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Comment=Additional isoforms seem to exist.;
CC Name=1; Synonyms=AIM-1a;
CC IsoId=Q9UMX9-1; Sequence=Displayed;
CC Name=2; Synonyms=AIM-1b;
CC IsoId=Q9UMX9-2; Sequence=VSP_006297, VSP_006298, VSP_006299;
CC Name=3; Synonyms=AIM-1c;
CC IsoId=Q9UMX9-3; Sequence=VSP_006296;
CC Name=4;
CC IsoId=Q9UMX9-4; Sequence=VSP_041220, VSP_041221;
CC -!- TISSUE SPECIFICITY: Expressed in most melanoma cell lines and
CC melanocytes.
CC -!- POLYMORPHISM: Genetic variants in SLC45A2 define the skin/hair/eye
CC pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin
CC pigmentation are among the most visible examples of human phenotypic
CC variation, with a broad normal range that is subject to substantial
CC geographic stratification. In the case of skin, individuals tend to
CC have lighter pigmentation with increasing distance from the equator. By
CC contrast, the majority of variation in human eye and hair color is
CC found among individuals of European ancestry, with most other human
CC populations fixed for brown eyes and black hair.
CC {ECO:0000269|PubMed:18563784, ECO:0000269|PubMed:18683857}.
CC -!- DISEASE: Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: A disorder of
CC pigmentation characterized by reduced biosynthesis of melanin in the
CC skin, hair and eyes. Patients show reduced or lacking pigmentation
CC associated with classic albinism ocular abnormalities, including
CC decreased visual acuity, macular hypoplasia, optic dysplasia, atypical
CC choroidal vessels, and nystagmus. {ECO:0000269|PubMed:11574907,
CC ECO:0000269|PubMed:14722913, ECO:0000269|PubMed:14961451,
CC ECO:0000269|PubMed:15656822, ECO:0000269|PubMed:17768386,
CC ECO:0000269|PubMed:19865097, ECO:0000269|PubMed:23504663}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the glycoside-pentoside-hexuronide (GPH) cation
CC symporter transporter (TC 2.A.2) family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH03597.1; Type=Frameshift; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Mutations of the MATP gene; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/sci-news/matpmut.htm";
CC -!- WEB RESOURCE: Name=Albinism database (ADB); Note=SLC45A2 mutations;
CC URL="http://www.ifpcs.org/albinism/oca4mut.html";
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DR EMBL; AF172849; AAD51812.1; -; mRNA.
DR EMBL; AC139777; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC139783; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC003597; AAH03597.1; ALT_FRAME; mRNA.
DR EMBL; BC064405; AAH64405.1; -; mRNA.
DR CCDS; CCDS3901.1; -. [Q9UMX9-1]
DR CCDS; CCDS43308.1; -. [Q9UMX9-4]
DR RefSeq; NP_001012527.1; NM_001012509.3. [Q9UMX9-4]
DR RefSeq; NP_001284346.2; NM_001297417.2.
DR RefSeq; NP_057264.3; NM_016180.4. [Q9UMX9-1]
DR AlphaFoldDB; Q9UMX9; -.
DR BioGRID; 119335; 14.
DR STRING; 9606.ENSP00000296589; -.
DR TCDB; 2.A.2.4.9; the glycoside-pentoside-hexuronide (gph):cation symporter family.
DR GlyGen; Q9UMX9; 1 site.
DR iPTMnet; Q9UMX9; -.
DR PhosphoSitePlus; Q9UMX9; -.
DR BioMuta; SLC45A2; -.
DR DMDM; 145572854; -.
DR PaxDb; Q9UMX9; -.
DR PeptideAtlas; Q9UMX9; -.
DR PRIDE; Q9UMX9; -.
DR ProteomicsDB; 85224; -. [Q9UMX9-1]
DR ProteomicsDB; 85226; -. [Q9UMX9-3]
DR Antibodypedia; 22757; 118 antibodies from 23 providers.
DR DNASU; 51151; -.
DR Ensembl; ENST00000296589.9; ENSP00000296589.4; ENSG00000164175.15. [Q9UMX9-1]
DR Ensembl; ENST00000382102.7; ENSP00000371534.3; ENSG00000164175.15. [Q9UMX9-4]
DR GeneID; 51151; -.
DR KEGG; hsa:51151; -.
DR MANE-Select; ENST00000296589.9; ENSP00000296589.4; NM_016180.5; NP_057264.4.
DR UCSC; uc003jid.4; human. [Q9UMX9-1]
DR CTD; 51151; -.
DR DisGeNET; 51151; -.
DR GeneCards; SLC45A2; -.
DR GeneReviews; SLC45A2; -.
DR HGNC; HGNC:16472; SLC45A2.
DR HPA; ENSG00000164175; Tissue enhanced (liver, skin, testis).
DR MalaCards; SLC45A2; -.
DR MIM; 227240; phenotype.
DR MIM; 606202; gene.
DR MIM; 606574; phenotype.
DR neXtProt; NX_Q9UMX9; -.
DR OpenTargets; ENSG00000164175; -.
DR Orphanet; 79435; Oculocutaneous albinism type 4.
DR PharmGKB; PA134897756; -.
DR VEuPathDB; HostDB:ENSG00000164175; -.
DR eggNOG; KOG0637; Eukaryota.
DR GeneTree; ENSGT00950000182914; -.
DR HOGENOM; CLU_015081_2_0_1; -.
DR InParanoid; Q9UMX9; -.
DR OMA; INVSMEP; -.
DR OrthoDB; 1230185at2759; -.
DR PhylomeDB; Q9UMX9; -.
DR TreeFam; TF325412; -.
DR PathwayCommons; Q9UMX9; -.
DR Reactome; R-HSA-5662702; Melanin biosynthesis.
DR SignaLink; Q9UMX9; -.
DR BioGRID-ORCS; 51151; 7 hits in 1062 CRISPR screens.
DR GeneWiki; SLC45A2; -.
DR GenomeRNAi; 51151; -.
DR Pharos; Q9UMX9; Tbio.
DR PRO; PR:Q9UMX9; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9UMX9; protein.
DR Bgee; ENSG00000164175; Expressed in pigmented layer of retina and 61 other tissues.
DR ExpressionAtlas; Q9UMX9; baseline and differential.
DR Genevisible; Q9UMX9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0033162; C:melanosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0008506; F:sucrose:proton symporter activity; ISS:ParkinsonsUK-UCL.
DR GO; GO:0048066; P:developmental pigmentation; IEA:Ensembl.
DR GO; GO:0042438; P:melanin biosynthetic process; IEA:UniProtKB-KW.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0015770; P:sucrose transport; ISS:ParkinsonsUK-UCL.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR Gene3D; 1.20.1250.20; -; 1.
DR InterPro; IPR036259; MFS_trans_sf.
DR SUPFAM; SSF103473; SSF103473; 1.
PE 1: Evidence at protein level;
KW Albinism; Alternative splicing; Disease variant; Glycoprotein;
KW Melanin biosynthesis; Membrane; Reference proteome; Sensory transduction;
KW Transmembrane; Transmembrane helix; Vision.
FT CHAIN 1..530
FT /note="Membrane-associated transporter protein"
FT /id="PRO_0000122517"
FT TOPO_DOM 1..46
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 47..67
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TOPO_DOM 68
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 69..89
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TOPO_DOM 90..110
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..131
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TOPO_DOM 132..138
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 139..159
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TOPO_DOM 160..184
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 185..205
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TOPO_DOM 206..216
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 217..237
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TOPO_DOM 238..318
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 319..339
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
FT TOPO_DOM 340..366
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 367..387
FT /note="Helical; Name=8"
FT /evidence="ECO:0000255"
FT TOPO_DOM 388..398
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 399..419
FT /note="Helical; Name=9"
FT /evidence="ECO:0000255"
FT TOPO_DOM 420..425
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 426..446
FT /note="Helical; Name=10"
FT /evidence="ECO:0000255"
FT TOPO_DOM 447..477
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 478..498
FT /note="Helical; Name=11"
FT /evidence="ECO:0000255"
FT TOPO_DOM 499..504
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 505..525
FT /note="Helical; Name=12"
FT /evidence="ECO:0000255"
FT TOPO_DOM 526..530
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 356
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 129..187
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_006296"
FT VAR_SEQ 188..295
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_006297"
FT VAR_SEQ 386..406
FT /note="YFQKVLVSYIGLKGLYFTGYL -> CKSFSLLRMSSKSFWSSTTWI (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_006298"
FT VAR_SEQ 407..530
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_006299"
FT VAR_SEQ 457..460
FT /note="RQQA -> VCCH (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041220"
FT VAR_SEQ 461..530
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041221"
FT VARIANT 42
FT /note="M -> I (in OCA4; dbSNP:rs1579564783)"
FT /evidence="ECO:0000269|PubMed:17768386"
FT /id="VAR_067071"
FT VARIANT 58
FT /note="P -> A (in OCA4; dbSNP:rs1290584600)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022710"
FT VARIANT 58
FT /note="P -> S (in OCA4)"
FT /evidence="ECO:0000269|PubMed:14961451"
FT /id="VAR_022711"
FT VARIANT 60
FT /note="L -> R (in OCA4; dbSNP:rs925113610)"
FT /evidence="ECO:0000269|PubMed:23504663"
FT /id="VAR_072602"
FT VARIANT 64
FT /note="G -> S (in OCA4)"
FT /evidence="ECO:0000269|PubMed:17768386"
FT /id="VAR_067072"
FT VARIANT 110
FT /note="G -> R (in OCA4; dbSNP:rs762813061)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073166"
FT VARIANT 151
FT /note="L -> P (in OCA4)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073167"
FT VARIANT 157
FT /note="D -> N (in OCA4; dbSNP:rs121912621)"
FT /evidence="ECO:0000269|PubMed:14961451,
FT ECO:0000269|PubMed:15656822, ECO:0000269|PubMed:17768386,
FT ECO:0000269|PubMed:19865097"
FT /id="VAR_022712"
FT VARIANT 160
FT /note="D -> H (in OCA4; dbSNP:rs760780597)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073168"
FT VARIANT 188
FT /note="G -> V (in OCA4)"
FT /evidence="ECO:0000269|PubMed:14961451"
FT /id="VAR_022713"
FT VARIANT 202
FT /note="W -> C (in OCA4; dbSNP:rs146802593)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022714"
FT VARIANT 221
FT /note="Missing (in OCA4)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022715"
FT VARIANT 233
FT /note="H -> Q (in OCA4)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073169"
FT VARIANT 272
FT /note="E -> K (associated with variability of hair, eye and
FT skin pigmentation; in Caucasians associated with dark hair,
FT skin and eye color; strong protective effect for melanoma
FT risk; dbSNP:rs26722)"
FT /evidence="ECO:0000269|PubMed:14722913,
FT ECO:0000269|PubMed:14961451, ECO:0000269|PubMed:15455243,
FT ECO:0000269|PubMed:15714523, ECO:0000269|PubMed:17768386,
FT ECO:0000269|PubMed:18683857, ECO:0000269|PubMed:25703744"
FT /id="VAR_022716"
FT VARIANT 302
FT /note="T -> S (in OCA4; dbSNP:rs553073635)"
FT /evidence="ECO:0000269|PubMed:17768386"
FT /id="VAR_067073"
FT VARIANT 317
FT /note="Y -> C (in OCA4)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022717"
FT VARIANT 348
FT /note="R -> C (in OCA4; dbSNP:rs372465070)"
FT /evidence="ECO:0000269|PubMed:17768386"
FT /id="VAR_067074"
FT VARIANT 349
FT /note="G -> R (in OCA4; dbSNP:rs146930801)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073170"
FT VARIANT 361
FT /note="L -> P (in OCA4; dbSNP:rs121912619)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022718"
FT VARIANT 368
FT /note="E -> K (in OCA4; dbSNP:rs1307137184)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073171"
FT VARIANT 374
FT /note="L -> F (associated with variability of hair, eye and
FT skin pigmentation; in Caucasians associated with dark hair,
FT skin and eye color; strong protective effect for melanoma
FT risk; dbSNP:rs16891982)"
FT /evidence="ECO:0000269|PubMed:11221837,
FT ECO:0000269|PubMed:11574907, ECO:0000269|PubMed:14722913,
FT ECO:0000269|PubMed:15455243, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:15714523, ECO:0000269|PubMed:17044855,
FT ECO:0000269|PubMed:17768386, ECO:0000269|PubMed:17999355,
FT ECO:0000269|PubMed:18563784, ECO:0000269|PubMed:18683857"
FT /id="VAR_012162"
FT VARIANT 418
FT /note="F -> L (in OCA4; dbSNP:rs144503724)"
FT /evidence="ECO:0000269|PubMed:19865097"
FT /id="VAR_073172"
FT VARIANT 477
FT /note="A -> T (in OCA4; dbSNP:rs1352999116)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022719"
FT VARIANT 486
FT /note="A -> V (in OCA4; dbSNP:rs121912620)"
FT /evidence="ECO:0000269|PubMed:14722913"
FT /id="VAR_022720"
FT VARIANT 500
FT /note="T -> P (in dbSNP:rs11568737)"
FT /evidence="ECO:0000269|PubMed:14961451"
FT /id="VAR_022721"
FT VARIANT 507
FT /note="V -> L (in dbSNP:rs3733808)"
FT /evidence="ECO:0000269|PubMed:14961451,
FT ECO:0000269|PubMed:15455243"
FT /id="VAR_022722"
SQ SEQUENCE 530 AA; 58268 MW; 11AA45A24EC1B35B CRC64;
MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA
PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA
MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF
LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN
VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKERQQA PGGDPDNSVR GKGMDCATLT
CMVQLAQILV GGGLGFLVNT AGTVVVVVIT ASAVALIGCC FVALFVRYVD
