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

Gene ID: 51151, updated on 3-Apr-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Homozygous promoter variant of SLC45A2 causes diverse hair color and patterns. Hida T, et al. J Dermatol, 2020 Oct. PMID 32686196
  2. 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. Lewis SS, et al. Clin Exp Dermatol, 2020 Jun. PMID 31630438
  3. Impact of a 4-bp deletion variant (rs984225803) in the promoter region of SLC45A2 on color variation among a Japanese population. Okamura K, et al. J Dermatol, 2019 Aug. PMID 30809845
  4. Purification and Functional Characterization of the C-Terminal Domain of the β-Actin-Binding Protein AIM1 In Vitro. Wu F, et al. Molecules, 2018 Dec 11. PMID 30544954, Free PMC Article
  5. SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity. Park J, et al. Cancer Immunol Res, 2017 Aug. PMID 28630054, Free PMC Article

See all (80) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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 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 response to stimulus IEA
Inferred from Electronic Annotation
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_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_047417259.1 → 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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