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    SLC51A solute carrier family 51 member A [ Homo sapiens (human) ]

    Gene ID: 200931, updated on 17-Jun-2024

    Summary

    Official Symbol
    SLC51Aprovided by HGNC
    Official Full Name
    solute carrier family 51 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:29955
    See related
    Ensembl:ENSG00000163959 MIM:612084; AllianceGenome:HGNC:29955
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OSTA; PFIC6; SLC51A1; OSTalpha
    Summary
    Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in small intestine (RPKM 36.5), liver (RPKM 24.2) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC51A in Genome Data Viewer
    Location:
    3q29
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196216534..196233427)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (198936009..198952903)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (195943405..195960298)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195924959-195925904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195929545-195930080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195930123-195930624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195930625-195931124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15057 Neighboring gene zinc finger DHHC-type palmitoyltransferase 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15058 Neighboring gene uncharacterized LOC124909479 Neighboring gene uncharacterized LOC105374304 Neighboring gene Sharpr-MPRA regulatory region 7098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21082 Neighboring gene phosphate cytidylyltransferase 1A, choline Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195990064-195990615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195990616-195991166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195999955-196000454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196005871-196006483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196013420-196014080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196014081-196014740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21086 Neighboring gene dynein light chain Tctex-type 2B Neighboring gene TM4SF19-DYNLT2B readthrough (NMD candidate) Neighboring gene uncharacterized LOC107986031

    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

    Associated conditions

    Description Tests
    Cholestasis, progressive familial intrahepatic, 6
    MedGen: C5561965 OMIM: 619484 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of organic solute transporter alpha (OSTalpha) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC39807

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bile acid transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bile acid and bile salt transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bile acid secretion IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    organic solute transporter subunit alpha
    Names
    OST-alpha
    organic solute transporter alpha
    organic solute transporter, alpha subunit
    solute carrier family 51 alpha subunit
    solute carrier family 51 subunit alpha

    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.

    mRNA and Protein(s)

    1. NM_152672.6NP_689885.4  organic solute transporter subunit alpha

      See identical proteins and their annotated locations for NP_689885.4

      Status: VALIDATED

      Source sequence(s)
      AC069257
      Consensus CDS
      CCDS3314.1
      UniProtKB/Swiss-Prot
      Q6ZMC7, Q86UW1
      Related
      ENSP00000296327.5, ENST00000296327.10
      Conserved Domains (1) summary
      pfam03619
      Location:53321
      Solute_trans_a; Organic solute transporter Ostalpha

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196216534..196233427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447662.1XP_047303618.1  organic solute transporter subunit alpha isoform X1

      UniProtKB/TrEMBL
      I6L9A1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      198936009..198952903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345629.1XP_054201604.1  organic solute transporter subunit alpha isoform X1

      UniProtKB/TrEMBL
      I6L9A1