LOCUS       NM_016180               1728 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 45 member 2 (SLC45A2),
            transcript variant 1, mRNA.
ACCESSION   NM_016180
VERSION     NM_016180.5
KEYWORDS    RefSeq; MANE Select.
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 1728)
  AUTHORS   Ang,K.C., Canfield,V.A., Foster,T.C., Harbaugh,T.D., Early,K.A.,
            Harter,R.L., Reid,K.P., Leong,S.L., Kawasawa,Y., Liu,D.,
            Hawley,J.W. and Cheng,K.C.
  TITLE     Native American genetic ancestry and pigmentation allele
            contributions to skin color in a Caribbean population
  JOURNAL   Elife 12, e77514 (2023)
   PUBMED   37294081
  REMARK    GeneRIF: Native American genetic ancestry and pigmentation allele
            contributions to skin color in a Caribbean population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1728)
  AUTHORS   Zuo,Z.H., Yu,Y.P., Ren,B.G., Liu,S., Nelson,J., Wang,Z., Tao,J.,
            Pradhan-Sundd,T., Bhargava,R., Michalopoulos,G., Chen,Q., Zhang,J.,
            Ma,D., Pennathur,A., Luketich,J., Satdarshan Monga,P., Nalesnik,M.
            and Luo,J.H.
  TITLE     Oncogenic Activity of Solute Carrier Family 45 Member 2 and
            Alpha-Methylacyl-Coenzyme A Racemase Gene Fusion Is Mediated by
            Mitogen-Activated Protein Kinase
  JOURNAL   Hepatol Commun 6 (1), 209-222 (2022)
   PUBMED   34505419
  REMARK    GeneRIF: Oncogenic Activity of Solute Carrier Family 45 Member 2
            and Alpha-Methylacyl-Coenzyme A Racemase Gene Fusion Is Mediated by
            Mitogen-Activated Protein Kinase.
REFERENCE   3  (bases 1 to 1728)
  AUTHORS   Le,L., Escobar,I.E., Ho,T., Lefkovith,A.J., Latteri,E.,
            Haltaufderhyde,K.D., Dennis,M.K., Plowright,L., Sviderskaya,E.V.,
            Bennett,D.C., Oancea,E. and Marks,M.S.
  TITLE     SLC45A2 protein stability and regulation of melanosome pH determine
            melanocyte pigmentation
  JOURNAL   Mol Biol Cell 31 (24), 2687-2702 (2020)
   PUBMED   32966160
  REMARK    GeneRIF: SLC45A2 protein stability and regulation of melanosome pH
            determine melanocyte pigmentation.
REFERENCE   4  (bases 1 to 1728)
  AUTHORS   Hida,T., Tsukamoto,K., Okura,M. and Uhara,H.
  TITLE     Homozygous promoter variant of SLC45A2 causes diverse hair color
            and patterns
  JOURNAL   J Dermatol 47 (10), e351-e352 (2020)
   PUBMED   32686196
  REMARK    GeneRIF: Homozygous promoter variant of SLC45A2 causes diverse hair
            color and patterns.
REFERENCE   5  (bases 1 to 1728)
  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   6  (bases 1 to 1728)
  AUTHORS   Newton,J.M., Cohen-Barak,O., Hagiwara,N., Gardner,J.M.,
            Davisson,M.T., King,R.A. and Brilliant,M.H.
  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   7  (bases 1 to 1728)
  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   8  (bases 1 to 1728)
  AUTHORS   Harada,M., Li,Y.F., El-Gamil,M., Rosenberg,S.A. and Robbins,P.F.
  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   9  (bases 1 to 1728)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37053367
REFERENCE   10 (bases 1 to 1728)
  AUTHORS   Hayashi,M. and Suzuki,T.
  TITLE     Oculocutaneous Albinism Type 4
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301683
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139783.3 and AC139777.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016180.4.
            
            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 sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296589.9/ ENSP00000296589.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-495               AC139783.3         94048-94542         c
            496-672             AC139783.3         92085-92261         c
            673-998             AC139783.3         73540-73865         c
            999-1142            AC139777.3         160379-160522       c
            1143-1266           AC139777.3         157572-157695       c
            1267-1478           AC139777.3         153181-153392       c
            1479-1728           AC139777.3         150641-150890       c
FEATURES             Location/Qualifiers
     source          1..1728
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..1728
                     /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..495
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1703
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /note="isoform a is encoded by transcript variant 1;
                     melanoma antigen AIM1; oculocutaneous albinism type 4;
                     membrane-associated transporter protein; underwhite;
                     protein AIM-1; antigen in melanoma 1"
                     /codon_start=1
                     /product="membrane-associated transporter protein isoform
                     a"
                     /protein_id="NP_057264.4"
                     /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
                     MLFFTDFMGQIVYRGDPYSAHNSTEFLIYERGVEVGCWGLCINSVFSSLYSYFQKVLV
                     SYIGLKGLYFTGYLLFGLGTGFIGLFPNVYSTLVLCSLFGVMSSTLYTVPFNLITEYH
                     REEEKERQQAPGGDPDNSVRGKGMDCATLTCMVQLAQILVGGGLGFLVNTAGTVVVVV
                     ITASAVALIGCCFVALFVRYVD"
     exon            496..672
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     exon            673..998
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1142
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1266
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1478
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1728
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1707..1712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /note="hexamer: AATAAA"
     polyA_site      1728
                     /gene="SLC45A2"
                     /gene_synonym="1A1; AIM1; MATP; OCA4; SHEP5"
                     /note="major polyA site"
ORIGIN      
        1 atctctgttg gttgctcggc caggctccac gtcaaatcca gtttgaaaca cagaccctag
       61 gaccacgcag gaggtggtgg gctcgcagga aggttcctct cccagtggcc atgggtagca
      121 acagtgggca ggctggccgc cacatctata aatccctagc tgatgatggc ccctttgact
      181 ctgtggagcc gcctaaaaga cccaccagca gactcatcat gcacagcatg gccatgttcg
      241 gaagagagtt ctgctacgcg gtggaggcag cgtatgtgac cccagtcctg ctcagcgtag
      301 gtctgcccag cagcctgtac agcattgtgt ggttcctcag ccccatcctg ggattcctgc
      361 tgcagcccgt ggtcggatcg gccagcgacc actgccggtc caggtggggc cgccggagac
      421 cctacatcct caccctggga gtcatgatgc tcgtgggcat ggctctgtac ctcaatgggg
      481 ctactgttgt agcagctttg attgctaacc caaggaggaa gctggtttgg gccataagtg
      541 tcaccatgat aggtgtcgtt ctctttgatt ttgctgccga cttcattgat gggcccatca
      601 aagcctactt atttgatgtc tgctcccatc aggacaagga gaagggcctc cactaccatg
      661 ccctcttcac aggttttgga ggtgccctgg gttacctttt gggtgctata gactgggccc
      721 atctggagct gggaagactg ttgggtacag aattccaggt catgttcttc ttctctgcat
      781 tggtgctcac tttgtgtttt actgttcatc tgtgcagtat ctctgaagcc ccacttacag
      841 aggttgcaaa gggcattccc ccacagcaaa cccctcagga ccctccattg tcatcagatg
      901 gaatgtacga gtatggttct atcgagaaag ttaaaaatgg ttacgtaaat ccagagctgg
      961 caatgcaggg agcaaaaaac aaaaatcatg ctgaacagac tcgcagggca atgacattaa
     1021 agtcactgct gagagcactg gtgaacatgc ctcctcacta ccgctacctt tgcatcagcc
     1081 acctcattgg atggacagcc ttcctgtcca acatgctgtt cttcacagat ttcatgggcc
     1141 agattgtgta ccgcggggat ccctatagtg cacacaactc cacagagttt ctcatctacg
     1201 aaagaggagt cgaggttgga tgttggggct tgtgcatcaa ctccgtgttt tcctcacttt
     1261 attcttactt tcagaaagtt ttggtatcct acattggatt aaagggtctt tacttcacgg
     1321 gatatttgct gtttggcctg gggacgggat ttattgggct cttcccgaat gtctactcca
     1381 ccctggtcct gtgcagcctg tttggtgtaa tgtccagcac cctgtacact gtgcccttta
     1441 acctcattac tgagtaccac cgcgaggaag aaaaggagag gcagcaggcc ccaggagggg
     1501 acccagacaa cagcgtgaga gggaagggca tggactgcgc caccctcaca tgcatggtgc
     1561 agctggctca gatcctggtc ggaggtggcc tgggctttct ggtcaacaca gccgggaccg
     1621 ttgtcgtcgt ggtgatcaca gcgtctgcgg tggcactgat aggctgttgc tttgtcgctc
     1681 tctttgttag atatgtggat taggtcaata aagagacaat gaccctaa
//
