LOCUS NM_016180 1734 bp mRNA linear PRI 03-MAY-2014 DEFINITION Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. ACCESSION NM_016180 VERSION NM_016180.3 GI:61635914 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1734) AUTHORS Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S and Patrosso MC. TITLE SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies JOURNAL Gene 533 (1), 398-402 (2014) PUBMED 24096233 REMARK GeneRIF: molecular defects in SLC45A2 gene represent the 3.4% of people with oculocutaneous albinism in this cohort of Italian patients, similar to other Caucasian populations REFERENCE 2 (bases 1 to 1734) AUTHORS Lucotte G and Yuasa I. TITLE Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa JOURNAL Biochem. Genet. 51 (9-10), 655-665 (2013) PUBMED 23660638 REMARK GeneRIF: Results show that almost all the African populations located below 16 degrees of latitude are fixed for the 374l allele of SLC45A2 gene. REFERENCE 3 (bases 1 to 1734) AUTHORS Kausar,T., Jaworek,T.J., Tariq,N., Sadia,S., Ali,M., Shaikh,R.S. and Ahmed,Z.M. TITLE Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism JOURNAL J. Invest. Dermatol. 133 (4), 1099-1102 (2013) PUBMED 23190901 REMARK GeneRIF: We report four Pakistani albinism mutations, including three SLC45A2 alleles and one 22-nucleotide deletion in TYRP1. REFERENCE 4 (bases 1 to 1734) AUTHORS Abe Y, Tamiya G, Nakamura T, Hozumi Y and Suzuki T. TITLE Association of melanogenesis genes with skin color variation among Japanese females JOURNAL J. Dermatol. Sci. 69 (2), 167-172 (2013) PUBMED 23165166 REMARK GeneRIF: We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis. REFERENCE 5 (bases 1 to 1734) AUTHORS Xu B, Pang T, Yao CQ, Zhang LY, Zheng H, Jiang WY and Li HY. TITLE [Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family] JOURNAL Zhonghua Yi Xue Za Zhi 92 (4), 254-258 (2012) PUBMED 22490798 REMARK GeneRIF: A novel large deletion mutation was detected and identified in oculocutaneous albinism type IV. REFERENCE 6 (bases 1 to 1734) AUTHORS Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A and Ishida T. TITLE Distinctive distribution of AIM1 polymorphism among major human populations with different skin color JOURNAL J. Hum. Genet. 47 (2), 92-94 (2002) PUBMED 11916009 REMARK GeneRIF: a single-nucleotide polymorphism that has clear association with major human populations in terms of skin color. REFERENCE 7 (bases 1 to 1734) AUTHORS Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA and Brilliant MH. TITLE Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4 JOURNAL Am. J. Hum. Genet. 69 (5), 981-988 (2001) PUBMED 11574907 REMARK GeneRIF: mutation underlies new form of oculocutaneous albinism, OCA4 REFERENCE 8 (bases 1 to 1734) AUTHORS Fukamachi S, Shimada A and Shima A. TITLE Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka JOURNAL Nat. Genet. 28 (4), 381-385 (2001) PUBMED 11479596 REFERENCE 9 (bases 1 to 1734) AUTHORS Harada M, Li YF, El-Gamil M, Rosenberg SA and Robbins PF. TITLE Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells JOURNAL Cancer Res. 61 (3), 1089-1094 (2001) PUBMED 11221837 REFERENCE 10 (bases 1 to 1734) AUTHORS Suzuki,T. and Hayashi,M. TITLE Oculocutaneous Albinism Type 4 JOURNAL (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993) PUBMED 20301683 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ677785.1, AF172849.1 and BU166522.1. This sequence is a reference standard in the RefSeqGene project. On Mar 17, 2005 this sequence version replaced gi:28872808. Summary: This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Transcript Variant: This variant (1) encodes the longer isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF172849.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025085 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-67 BQ677785.1 1-67 68-1708 AF172849.1 1-1641 1709-1734 BU166522.1 454-479 FEATURES Location/Qualifiers source 1..1734 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5p13.2" gene 1..1734 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /note="solute carrier family 45, member 2" /db_xref="GeneID:51151" /db_xref="HGNC:HGNC:16472" /db_xref="MIM:606202" exon 1..477 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" CDS 93..1685 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /note="isoform a is encoded by transcript variant 1; membrane associated transporter; melanoma antigen AIM1; membrane-associated transporter protein; underwhite; protein AIM-1" /codon_start=1 /product="membrane-associated transporter protein isoform a" /protein_id="NP_057264.3" /db_xref="GI:61635915" /db_xref="CCDS:CCDS3901.1" /db_xref="GeneID:51151" /db_xref="HGNC:HGNC:16472" /db_xref="MIM:606202" /translation="MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFG REFCYAVEAAYVTPVLLSVGLPSSLYSIVWFLSPILGFLLQPVVGSASDHCRSRWGRR RPYILTLGVMMLVGMALYLNGATVVAALIANPRRKLVWAISVTMIGVVLFDFAADFID GPIKAYLFDVCSHQDKEKGLHYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVM FFFSALVLTLCFTVHLCSISEAPLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKN GYVNPELAMQGAKNKNHAEQTRRAMTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSN MLFFTDFMGQIVYRGDPYSAHNSTEFLIYERGVEVGCWGFCINSVFSSLYSYFQKVLV SYIGLKGLYFTGYLLFGLGTGFIGLFPNVYSTLVLCSLFGVMSSTLYTVPFNLITEYH REEEKERQQAPGGDPDNSVRGKGMDCATLTCMVQLAQILVGGGLGFLVNTAGTVVVVV ITASAVALIGCCFVALFVRYVD" misc_feature 231..293 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 297..359 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 423..485 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 507..569 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 645..707 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 741..803 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 1047..1109 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 1191..1253 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 1287..1349 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 1368..1430 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 1524..1586 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" misc_feature 1605..1667 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UMX9.2); transmembrane region" exon 478..654 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" exon 655..980 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" exon 981..1124 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" exon 1125..1248 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" exon 1249..1460 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" exon 1461..1717 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" /inference="alignment:Splign:1.39.8" polyA_signal 1689..1694 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" polyA_site 1717 /gene="SLC45A2" /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5" ORIGIN 1 gccaggctcc acgtcaaatc cagtttgaaa cacagaccct aggaccacgc aggaggtggt 61 gggctcgcag gaaggttcct ctcccagtgg ccatgggtag caacagtggg caggctggcc 121 gccacatcta taaatcccta gctgatgatg gcccctttga ctctgtggag ccgcctaaaa 181 gacccaccag cagactcatc atgcacagca tggccatgtt cggaagagag ttctgctacg 241 cggtggaggc agcgtatgtg accccagtcc tgctcagcgt aggtctgccc agcagcctgt 301 acagcattgt gtggttcctc agccccatcc tgggattcct gctgcagccc gtggtcggat 361 cggccagcga ccactgccgg tccaggtggg gccgccggag accctacatc ctcaccctgg 421 gagtcatgat gctcgtgggc atggctctgt acctcaatgg ggctactgtt gtagcagctt 481 tgattgctaa cccaaggagg aagctggttt gggccataag tgtcaccatg ataggtgtcg 541 ttctctttga ttttgctgcc gacttcattg atgggcccat caaagcctac ttatttgatg 601 tctgctccca tcaggacaag gagaagggcc tccactacca tgccctcttc acaggttttg 661 gaggtgccct gggttacctt ttgggtgcta tagactgggc ccatctggag ctgggaagac 721 tgttgggtac agaattccag gtcatgttct tcttctctgc attggtgctc actttgtgtt 781 ttactgttca tctgtgcagt atctctgaag ccccacttac agaggttgca aagggcattc 841 ccccacagca aacccctcag gaccctccat tgtcatcaga tggaatgtac gagtatggtt 901 ctatcgagaa agttaaaaat ggttacgtaa atccagagct ggcaatgcag ggagcaaaaa 961 acaaaaatca tgctgaacag actcgcaggg caatgacatt aaagtcactg ctgagagcac 1021 tggtgaacat gcctcctcac taccgctacc tttgcatcag ccacctcatt ggatggacgg 1081 ccttcctgtc caacatgctg ttcttcacag atttcatggg ccagattgtg taccgcgggg 1141 atccctatag tgcacacaac tccacagagt ttctcatcta cgaaagagga gtcgaggttg 1201 gatgttgggg cttctgcatc aactccgtgt tttcctcact ttattcttac tttcagaaag 1261 ttttggtatc ctacattgga ttaaagggtc tttacttcac gggatatttg ctgtttggcc 1321 tggggacggg atttattggg ctcttcccga atgtctactc caccctggtc ctgtgcagcc 1381 tgtttggtgt aatgtccagc accctgtaca ctgtgccctt taacctcatt actgagtacc 1441 accgcgagga agaaaaggag aggcagcagg ccccaggagg ggacccagac aacagcgtga 1501 gagggaaggg catggactgc gccaccctca catgcatggt gcagctggct cagatcctgg 1561 tcggaggtgg cctgggcttt ctggtcaaca cagccgggac cgttgtcgtc gtggtgatca 1621 cagcgtctgc ggtggcactg ataggctgtt gctttgtcgc tctctttgtt agatatgtgg 1681 attaggtcaa taaagagaca atgaccctaa cctcagaaaa aaaaaaaaaa aaaa //