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

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; AllianceGenome:HGNC:10961
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: mouse all
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Genomic context

Location:: 12p12.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (20810705..20916911)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (20689337..20795485)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (20963639..21069845)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLCO1B3 and SLCO2B1 genotypes, androgen deprivation therapy, and prostate cancer outcomes: a prospective cohort study and meta-analysis.
Title: SLCO1B3 and SLCO2B1 genotypes, androgen deprivation therapy, and prostate cancer outcomes: a prospective cohort study and meta-analysis.
Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
Title: Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
Structure of human drug transporters OATP1B1 and OATP1B3.
Title: Structure of human drug transporters OATP1B1 and OATP1B3.
SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.
Title: SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.
Toxicity and therapy outcome associations in LIG3, SLCO1B3, ABCB1, OPRM1 and GSTP1 in high-grade serous ovarian cancer.
Title: Toxicity and therapy outcome associations in LIG3, SLCO1B3, ABCB1, OPRM1 and GSTP1 in high-grade serous ovarian cancer.
Association Study of SLCO1B3 and ABCC3 Genetic Variants in Gallstone Disease.
Title: Association Study of SLCO1B3 and ABCC3 Genetic Variants in Gallstone Disease.
Association of SLC22A1,SLCO1B3 Drug Transporter Polymorphisms and Smoking with Disease Risk and Cytogenetic Response to Imatinib in Patients with Chronic Myeloid Leukemia.
Title: Association of SLC22A1,SLCO1B3 Drug Transporter Polymorphisms and Smoking with Disease Risk and Cytogenetic Response to Imatinib in Patients with Chronic Myeloid Leukemia.
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
Title: Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
SLCO1B3 promotes colorectal cancer tumorigenesis and metastasis through STAT3.
Title: SLCO1B3 promotes colorectal cancer tumorigenesis and metastasis through STAT3.
Abiraterone induces SLCO1B3 expression in prostate cancer via microRNA-579-3p.
Title: Abiraterone induces SLCO1B3 expression in prostate cancer via microRNA-579-3p.

Submit: New GeneRIF Correction See all GeneRIFs (133)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SLC21A8_826 (e-PCR)
- UniSTS:277731

RH68705 (e-PCR)
- UniSTS:60656

Readthrough SLCO1B3-SLCO1B7

Readthrough gene: SLCO1B3-SLCO1B7, Included gene: SLCO1B7

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bile acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables bile acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables organic anion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables sodium-independent organic anion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium-independent organic anion transmembrane transporter activity	TAS Traceable Author Statement 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	TAS Traceable Author Statement more info
involved_in heme catabolic process	TAS Traceable Author Statement more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation 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
involved_in sodium-independent organic anion transport	TAS Traceable Author Statement more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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.

Genomic

NG_032071.2 RefSeqGene

Range

5002..111208

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001349920.2 → NP_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

UniProtKB/TrEMBL

Q7Z454

Conserved Domains (1) summary

pfam03137
Location:1 → 593

OATP; Organic Anion Transporter Polypeptide (OATP) family
NM_019844.4 → NP_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

E7EMT8, Q5JAR4, Q9NPD5

UniProtKB/TrEMBL

Q7Z454

Related

ENSP00000370956.4, ENST00000381545.8

Conserved Domains (3) summary

cd06174
Location:31 → 429

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:455 → 508

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:29 → 621

OATP; Organic Anion Transporter Polypeptide (OATP) family