Format

Send to:

Choose Destination

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

Gene ID: 51151, updated on 8-Jul-2018
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; Vega:OTTHUMG00000090719
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
See SLC45A2 in Genome Data Viewer
Location:
5p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (33944616..33984675, 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
Preferred Names
membrane-associated transporter protein
Names
melanoma antigen AIM1
protein AIM-1
underwhite

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_001012509.3NP_001012527.1  membrane-associated transporter protein isoform b

    See identical proteins and their annotated locations for NP_001012527.1

    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, BC064405, BQ677785
    Consensus CDS
    CCDS43308.1
    UniProtKB/Swiss-Prot
    Q9UMX9
    Related
    ENSP00000371534.3, OTTHUMP00000155209, ENST00000382102.7, OTTHUMT00000246885
    Conserved Domains (1) summary
    TIGR01301
    Location:31449
    GPH_sucrose; GPH family sucrose/H+ symporter
  2. NM_001297417.2NP_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, BC003597, BQ677785
    Consensus CDS
    CCDS75232.1
    UniProtKB/Swiss-Prot
    Q9UMX9
    UniProtKB/TrEMBL
    D6RGY6
    Related
    ENSP00000421100.1, OTTHUMP00000221214, ENST00000509381.1, OTTHUMT00000367167
    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_016180.4NP_057264.3  membrane-associated transporter protein isoform a

    See identical proteins and their annotated locations for NP_057264.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC139777, AF172849, BQ677785, BU166522
    Consensus CDS
    CCDS3901.1
    UniProtKB/Swiss-Prot
    Q9UMX9
    UniProtKB/TrEMBL
    A0A076YGN1
    Related
    ENSP00000296589.4, OTTHUMP00000115892, ENST00000296589.8, OTTHUMT00000207443
    Conserved Domains (2) summary
    pfam13347
    Location:36524
    MFS_2; MFS/sugar transport protein
    cl21472
    Location:34232
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    33944616..33984675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187551.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    145938..155829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center