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

    Gene ID: 28234, updated on 8-Jul-2021

    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
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    Genomic context

    See SLCO1B3 in Genome Data Viewer
    Location:
    12p12.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (20810705..20916911)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (20963639..21069845)

    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 1B1 Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene islet amyloid polypeptide

    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
    A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
    GeneReviews: Not available
    Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
    GeneReviews: Not available
    Genome-wide association of serum bilirubin levels in Korean population.
    GeneReviews: Not available
    Many sequence variants affecting diversity of adult human height.
    GeneReviews: Not available
    Rotor syndrome
    MedGen: C0220991 OMIM: 237450 GeneReviews: Rotor Syndrome
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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 TAS
    Traceable Author Statement
    more info
     
    involved_in heme catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in organic anion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sodium-independent organic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in sodium-independent organic anion transport TAS
    Traceable Author Statement
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    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.

    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
      ENSP00000370956.4, ENST00000381545.8
      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 109.20210514

    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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