SLCO1B1 solute carrier organic anion transporter family member 1B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLCO1B1provided by HGNC
Official Full Name: solute carrier organic anion transporter family member 1B1provided by HGNC
Primary source: HGNC:HGNC:10959
See related: Ensembl:ENSG00000134538 MIM:604843; AllianceGenome:HGNC:10959
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: LST1; HBLRR; LST-1; OATP2; OATPC; OATP-C; OATP1B1; SLC21A6
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 numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]
Expression: Restricted expression toward liver (RPKM 119.3) See more
Orthologs: all
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Genomic context

Location:: 12p12.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (21131194..21239796)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (21009810..21118451)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (21284128..21392730)

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?

The impact of SLCO1B1 rs4149056 on LDL-C target achievement after lipid lowering therapy optimization in men and women with familial hypercholesterolemia.
Title: The impact of SLCO1B1 rs4149056 on LDL-C target achievement after lipid lowering therapy optimization in men and women with familial hypercholesterolemia.
Non-targeted metabolomics for the identification of plasma metabolites associated with organic anion transporting polypeptide 1B1 function.
Title: Non-targeted metabolomics for the identification of plasma metabolites associated with organic anion transporting polypeptide 1B1 function.
SLCO1B1 Polymorphisms are Associated with the Susceptibility to Pulmonary Tuberculosis in Chinese Females.
Title: SLCO1B1 Polymorphisms are Associated with the Susceptibility to Pulmonary Tuberculosis in Chinese Females.
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.
SLCO1B1 variants and the risk of antituberculosis drug-induced hepatotoxicity: a systematic review and meta-analysis.
Title: SLCO1B1 variants and the risk of antituberculosis drug-induced hepatotoxicity: a systematic review and meta-analysis.
Cryo-EM structures of human organic anion transporting polypeptide OATP1B1.
Title: Cryo-EM structures of human organic anion transporting polypeptide OATP1B1.
Effect of SLCO1B1 c.521T>C polymorphism on the lipid response to statins in people living with HIV on a boosted protease inhibitor-containing regimen.
Title: Effect of SLCO1B1 c.521T>C polymorphism on the lipid response to statins in people living with HIV on a boosted protease inhibitor-containing regimen.
Association between SLCO1B1 genetic polymorphisms and bleeding risk in patients treated with edoxaban.
Title: Association between SLCO1B1 genetic polymorphisms and bleeding risk in patients treated with edoxaban.
Structure of human drug transporters OATP1B1 and OATP1B3.
Title: Structure of human drug transporters OATP1B1 and OATP1B3.
SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort.
Title: SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort.

Submit: New GeneRIF Correction See all GeneRIFs (331)

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	not available
Simvastatin response MedGen: CN128903 GeneReviews: Not available	not available
Statin-induced myopathy MedGen: CN181199 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association meta-analysis for total serum bilirubin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide study of methotrexate clearance replicates SLCO1B1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
SLCO1B1 variants and statin-induced myopathy--a genomewide study. 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

SHGC-153709 (e-PCR)
- UniSTS:182553

RH1600 (e-PCR)
- UniSTS:10796

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 prostaglandin transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
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
enables thyroid hormone 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 prostaglandin transport	IEA Inferred from Electronic Annotation more info
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 thyroid hormone transport	IEA Inferred from Electronic Annotation 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 membrane	TAS Traceable Author Statement 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

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Preferred Names: solute carrier organic anion transporter family member 1B1

Names: OATP-2; liver-specific organic anion transporter 1; organic anion transporter SLC21A6; sodium-independent organic anion-transporting polypeptide 2; solute carrier family 21 (organic anion transporter), member 6

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_011745.1 RefSeqGene

Range

5001..113603

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1022

mRNA and Protein(s)

NM_006446.5 → NP_006437.3 solute carrier organic anion transporter family member 1B1

See identical proteins and their annotated locations for NP_006437.3

Status: REVIEWED

Source sequence(s)

AC022335, AF205071, BC020696

Consensus CDS

CCDS8685.1

UniProtKB/Swiss-Prot

B2R7G2, Q29R64, Q9NQ37, Q9UBF3, Q9UH89, Q9Y6L6

Related

ENSP00000256958.2, ENST00000256958.3

Conserved Domains (3) summary

cd06174
Location:31 → 427

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