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SLCO1B3 solute carrier organic anion transporter family member 1B3 [ Homo sapiens (human) ]

Gene ID: 28234, updated on 1-Jun-2020

Summary

Official Symbol
SLCO1B3provided by HGNC
Official Full Name
solute carrier organic anion transporter family member 1B3provided by HGNC
Primary source
HGNC:HGNC:10961
See related
Ensembl:ENSG00000111700 MIM:605495
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
LST3; HBLRR; LST-2; OATP8; OATP-8; OATP1B3; SLC21A8; LST-3TM13
Summary
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]
Expression
Restricted expression toward liver (RPKM 30.2) See more
Orthologs

Genomic context

See SLCO1B3 in Genome Data Viewer
Location:
12p12.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (20810705..20916911)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (20963638..21070019)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 3A Neighboring gene ubiquitin like with PHD and ring finger domains 1 pseudogene Neighboring gene solute carrier organic anion transporter family member 1C1 Neighboring gene SLCO1B3-SLCO1B7 readthrough Neighboring gene solute carrier organic anion transporter family member 1B7 (putative) Neighboring gene solute carrier organic anion transporter family member 1B1

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
Rotor syndrome
MedGen: C0220991 OMIM: 237450 GeneReviews: Rotor Syndrome
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
NHGRI GWA Catalog
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
NHGRI GWA Catalog
Genome-wide association of serum bilirubin levels in Korean population.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bile acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
organic anion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
sodium-independent organic anion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bile acid and bile salt transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid and bile salt transport TAS
Traceable Author Statement
more info
 
organic anion transport TAS
Traceable Author Statement
more info
PubMed 
sodium-independent organic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium-independent organic anion transport TAS
Traceable Author Statement
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
solute carrier organic anion transporter family member 1B3
Names
liver-specific organic anion transporter 2
liver-specific organic anion transporter 3TM13
organic anion transporter 8
organic anion transporter LST-3c
organic anion-transporting polypeptide 8
solute carrier family 21 (organic anion transporter), member 8

NCBI Reference Sequences (RefSeq)

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_032071.1 RefSeqGene

    Range
    5001..111208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349920.2NP_001336849.1  solute carrier organic anion transporter family member 1B3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. The promoter and 5' terminal exon sequence is from an endogenous retroviral LTR. (PMID: 22326869) The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1. The protein encoded is primarily expressed in colon and pancreas cancers.
    Source sequence(s)
    AC011604
    Conserved Domains (1) summary
    pfam03137
    Location:1593
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  2. NM_019844.4NP_062818.1  solute carrier organic anion transporter family member 1B3 isoform 1

    See identical proteins and their annotated locations for NP_062818.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1), which is highly expressed in the liver.
    Source sequence(s)
    AC011604
    Consensus CDS
    CCDS8684.1
    UniProtKB/Swiss-Prot
    Q9NPD5
    UniProtKB/TrEMBL
    B3KP78
    Related
    ENSP00000370956.3, ENST00000381545.7
    Conserved Domains (3) summary
    cd06174
    Location:31429
    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 ...
    cd01330
    Location:455508
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:29621
    OATP; Organic Anion Transporter Polypeptide (OATP) family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    20810705..20916911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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