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

    Gene ID: 51151, updated on 17-Jun-2019

    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
    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

    Genomic context

    See SLC45A2 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (33944623..33984693, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33944721..33984780, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 12 Neighboring gene RNA, U6 small nuclear 923, pseudogene Neighboring gene C1QTNF3-AMACR readthrough (NMD candidate) Neighboring gene relaxin family peptide receptor 3 Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3 Neighboring gene alpha-methylacyl-CoA racemase Neighboring gene C1q and TNF related 3 Neighboring gene glucuronidase beta pseudogene

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Oculocutaneous albinism type 4
    MedGen: C1847836 OMIM: 606574 GeneReviews: Oculocutaneous Albinism Type 4
    Compare labs
    Skin/hair/eye pigmentation, variation in, 5
    MedGen: C2673584 OMIM: 227240 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Melanin biosynthesis, organism-specific biosystem (from REACTOME)
      Melanin biosynthesis, organism-specific biosystemMelanin biosynthesis takes place in specialized cells called melanocytes, within membrane-bound organelles referred to as melanosomes. Melanosomes are transferred via dendrites to surrounding keratin...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
      Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sucrose:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sucrose:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    developmental pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    sucrose transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    membrane-associated transporter protein
    Names
    melanoma antigen AIM1
    protein AIM-1
    underwhite

    NCBI Reference Sequences (RefSeq)

    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_011691.2 RefSeqGene

      Range
      5001..45060
      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
      Related
      ENSP00000371534.3, ENST00000382102.7
    2. NM_001297417.3NP_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/Swiss-Prot
      Q9UMX9
      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
      Related
      ENSP00000296589.4, ENST00000296589.9
      Conserved Domains (1) summary
      TIGR01301
      Location:31449
      GPH_sucrose; GPH family sucrose/H+ symporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187551.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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