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

    Gene ID: 51151, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See SLC45A2 in Genome Data Viewer
    Location:
    5p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (33944623..33984693, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (34066546..34106612, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Suzuki T, et al. Br J Dermatol, 2005 Jan. PMID 15656822
    2. Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach. Kamaraj B, et al. J Cell Biochem, 2016 Nov. PMID 27019209
    3. MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids. Yuasa I, et al. Int J Legal Med, 2004 Dec. PMID 15455243
    4. Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity. Bin BH, et al. PLoS One, 2015. PMID 26057890, Free PMC Article
    5. The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population. López S, et al. PLoS One, 2014. PMID 25093503, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
      Title: Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
    2. Oncogenic Activity of Solute Carrier Family 45 Member 2 and Alpha-Methylacyl-Coenzyme A Racemase Gene Fusion Is Mediated by Mitogen-Activated Protein Kinase.
      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.
    3. Homozygous promoter variant of SLC45A2 causes diverse hair color and patterns.
      Title: Homozygous promoter variant of SLC45A2 causes diverse hair color and patterns.
    4. SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.
      Title: SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.
    5. A novel deletion mutation c.579delG [p.(Gly194Valfs*7)] in the SLC45A2 gene, predicted to be pathogenic and to result in both frameshift and premature termination of the MATP chain, was identified in a family.
      Title: Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India.
    6. Study in two unrelated oculocutaneous albinism (OCA)-suspected Japanese female patients concluded that the homozygous 4-bp deletion variant (rs984225803) in the promoter region of SLC45A2 caused the OCA-like phenotype.
      Title: Impact of a 4-bp deletion variant (rs984225803) in the promoter region of SLC45A2 on color variation among a Japanese population.
    7. AIM1 first Greek motif g1 is required for the main physiological functions of AIM1.AIM1 interaction with beta-actin.
      Title: Purification and Functional Characterization of the C-Terminal Domain of the β-Actin-Binding Protein AIM1 In Vitro.
    8. Study confirmed a significant role for IRF4 rs12203592 and SLC45A2 rs16891982 in the risk of cutaneous squamous cell carcinoma development in organ transplant recipients.
      Title: IRF4 Polymorphism Is Associated with Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients: A Pigment-Independent Phenomenon.
    9. our study demonstrates the feasibility of using tandem MS as a means of discovering shared immunogenic tumor-associated epitopes and identifies SLC45A2 as a promising immunotherapeutic target for melanoma with high tumor selectivity and reduced potential for autoimmune toxicity
      Title: SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity.
    10. Evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. Results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation and reinforce the relevance of SNP L374F in human pigmentation.
      Title: Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.
    Submit: New GeneRIF Correction See all GeneRIFs (54)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-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 hexose 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

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    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)

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    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_001012509.4 → NP_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:35 → 453
      MFS_SLC45_SUC; Solute carrier family 45 and similar sugar transporters of the Major Facilitator Superfamily of transporters

    2. NM_001297417.4 → NP_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:34 → 157
      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_016180.5 → NP_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:31 → 449
      GPH_sucrose; GPH family sucrose/H+ symporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047417259.1 → XP_047273215.1  membrane-associated transporter protein isoform X1

    2. XM_047417260.1 → XP_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_054352715.1 → XP_054208690.1  membrane-associated transporter protein isoform X1

    2. XM_054352716.1 → XP_054208691.1  membrane-associated transporter protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMX9.2 GenPept UniProtKB/Swiss-Prot:Q9UMX9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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