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SLC51A solute carrier family 51 subunit alpha [ Homo sapiens (human) ]

Gene ID: 200931, updated on 22-Sep-2022

Summary

Official Symbol
SLC51Aprovided by HGNC
Official Full Name
solute carrier family 51 subunit alphaprovided 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; 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
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Genomic context

See SLC51A in Genome Data Viewer
Location:
3q29
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196216534..196233427)
110 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 zinc finger DHHC-type palmitoyltransferase 19 Neighboring gene uncharacterized LOC124909479 Neighboring gene uncharacterized LOC105374304 Neighboring gene Sharpr-MPRA regulatory region 7098 Neighboring gene phosphate cytidylyltransferase 1A, choline 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

Homology

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
PubMed 
Process Evidence Code Pubs
involved_in bile acid and bile salt transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
involved_in transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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.

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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

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