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    SLC45A2 solute carrier family 45 member 2 [ Homo sapiens (human) ]

    Gene ID: 51151, updated on 17-Jun-2024

    Summary

    Official Symbol
    SLC45A2provided by HGNC
    Official Full Name
    solute carrier family 45 member 2provided by HGNC
    Primary source
    HGNC:HGNC:16472
    See related
    Ensembl:ENSG00000164175 MIM:606202; AllianceGenome:HGNC:16472
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    1A1; AIM1; MATP; OCA4; SHEP5
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC45A2 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (33944623..33984693, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (34066546..34106612, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33944728..33984798, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:33891377-33891878 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:33891879-33892378 Neighboring gene RNA, U6 small nuclear 923, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33931143-33931648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33944338-33944838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33944839-33945339 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33978101-33978993 Neighboring gene C1QTNF3-AMACR readthrough (NMD candidate) Neighboring gene relaxin family peptide receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15964 Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3 Neighboring gene alpha-methylacyl-CoA racemase Neighboring gene C1q and TNF related 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34179672-34180662 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34182107-34182256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:34182743-34183352 Neighboring gene GUSB pseudogene 18

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
    EBI GWAS Catalog
    A genomewide association study of skin pigmentation in a South Asian population.
    EBI GWAS Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study of tanning phenotype in a population of European ancestry.
    EBI GWAS Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucose:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sucrose:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sucrose:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in developmental pigmentation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosomal lumen pH elevation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lysosomal lumen pH elevation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in melanin biosynthetic process from tyrosine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in melanin biosynthetic process from tyrosine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sucrose transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    membrane-associated transporter protein
    Names
    antigen in melanoma 1
    melanoma antigen AIM1
    oculocutaneous albinism type 4
    protein AIM-1
    underwhite

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011691.3 RefSeqGene

      Range
      5000..45070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012509.4NP_001012527.2  membrane-associated transporter protein isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC139777, AC139783
      Consensus CDS
      CCDS43308.1
      UniProtKB/TrEMBL
      A0A076YGN1
      Related
      ENSP00000371534.3, ENST00000382102.7
      Conserved Domains (1) summary
      cd17313
      Location:35453
      MFS_SLC45_SUC; Solute carrier family 45 and similar sugar transporters of the Major Facilitator Superfamily of transporters
    2. NM_001297417.4NP_001284346.2  membrane-associated transporter protein isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, which result in a translational frameshift and an earlier translation termination as well as a novel 3' UTR, compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC139777, AC139783
      Consensus CDS
      CCDS75232.1
      UniProtKB/TrEMBL
      D6RGY6
      Related
      ENSP00000421100.1, ENST00000509381.1
      Conserved Domains (1) summary
      cd06174
      Location:34157
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    3. NM_016180.5NP_057264.4  membrane-associated transporter protein isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC139777, AC139783
      Consensus CDS
      CCDS3901.1
      UniProtKB/Swiss-Prot
      Q6P2P0, Q9BTM3, Q9UMX9
      UniProtKB/TrEMBL
      A0A076YGN1, A0A076YIB8
      Related
      ENSP00000296589.4, ENST00000296589.9
      Conserved Domains (1) summary
      TIGR01301
      Location:31449
      GPH_sucrose; GPH family sucrose/H+ symporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      33944623..33984693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417259.1XP_047273215.1  membrane-associated transporter protein isoform X1

      UniProtKB/TrEMBL
      A0A076YGN1, A0A076YN63
    2. XM_047417260.1XP_047273216.1  membrane-associated transporter protein isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187551.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      145945..155829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      34066546..34106612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352715.1XP_054208690.1  membrane-associated transporter protein isoform X1

      UniProtKB/TrEMBL
      A0A076YGN1, A0A076YN63
    2. XM_054352716.1XP_054208691.1  membrane-associated transporter protein isoform X2