SLCO1B1 (solute carrier organic anion transporter family member 1B1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10599
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier organic anion transporter family member 1B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLCO1B1
Synonyms (NCBI Gene) Gene synonyms aliases
HBLRR, LST-1, LST1, OATP-C, OATP1B1, OATP2, OATPC, SLC21A6
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 estra
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs2306283 A>C,G,T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant
rs4149015 G>A,C,T Drug-response Upstream transcript variant
rs4149056 T>C Drug-response, pathogenic, other, benign Coding sequence variant, missense variant
rs11045879 T>C Drug-response Intron variant
rs71581941 C>A,T Pathogenic, uncertain-significance Synonymous variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
miRTarBase ID miRNA Experiments Reference
MIRT018741 hsa-miR-335-5p Microarray 18185580
MIRT030029 hsa-miR-26b-5p Microarray 19088304
MIRT1369299 hsa-miR-1 CLIP-seq
MIRT1369300 hsa-miR-2053 CLIP-seq
MIRT1369301 hsa-miR-206 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 10358072
GO:0006805 Process Xenobiotic metabolic process TAS
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604843 10959 ENSG00000134538
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y6L6
Protein name Solute carrier organic anion transporter family member 1B1 (SLCO1B1) (Liver-specific organic anion transporter 1) (LST-1) (OATP-C) (Organic anion transporter SLC21A6) (Sodium-independent organic anion-transporting polypeptide 2) (OATP-2) (Solute carrier f
Protein function Mediates the Na(+)-independent uptake of organic anions (PubMed:10358072, PubMed:15159445, PubMed:17412826). Shows broad substrate specificity, can transport both organic anions such as bile acid taurocholate (cholyltaurine) and conjugated stero
PDB 8HNB , 8HNC , 8HND , 8HNH , 8K6L , 8PHW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03137 OATP 29 → 621 Organic Anion Transporter Polypeptide (OATP) family Family
PF07648 Kazal_2 460 → 506 Kazal-type serine protease inhibitor domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver, at the basolateral membranes of centrilobular hepatocytes (PubMed:10358072, PubMed:10601278, PubMed:10873595, PubMed:12196548, PubMed:22232210). Expressed in liver (at protein level) (PubMed:15159445). Expres
Sequence
Sequence length 691
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Bile secretion
Folate transport and metabolism 		  Recycling of bile acids and salts
Heme degradation
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
Transport of organic anions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Rotor Syndrome rotor syndrome rs71581941, rs183501729 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gilbert Disease Gilbert syndrome N/A N/A ClinVar
Gout Gout N/A N/A GWAS
Hypogonadism Hypogonadism N/A N/A GWAS
Show/Hide Text Mining Associations (87)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 24712521
Adrenocortical Carcinoma Associate 32607875
Amenorrhea Associate 27234217
Anemia Sickle Cell Associate 26146896
Anxiety Associate 31181069
Arthritis Rheumatoid Associate 31292326
Autism Spectrum Disorder Associate 38287090
Bacterial Infections Associate 34558822
Bile Duct Diseases Associate 28084414
Breast Neoplasms Associate 21457551, 25701109, 27234217, 28429243, 31190621, 32351149, 35501422