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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10599
Gene name Solute carrier organic anion transporter family member 1B1
Gene symbol SLCO1B1
Synonyms (NCBI Gene)
HBLRRLST-1LST1OATP-COATP1B1OATP2OATPCSLC21A6
Chromosome 12
Chromosome location 12p12.1
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 estra
SNPs SNP information provided by dbSNP.
6
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.
24
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604843 10959 ENSG00000134538
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hepatocellular carcinoma Likely pathogenic rs200994482 RCV005931062
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rotor syndrome Likely pathogenic; Pathogenic rs200994482, rs71581941, rs183501729 RCV005230485
RCV000023390
RCV000023392
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLCO1B1-related disorder Pathogenic rs71581941 RCV003914860
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (29)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
atorvastatin response - Metabolism/PK drug response ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
atorvastatin response - Toxicity drug response ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIRUBIN METABOLISM DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (169)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 16161006
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 32607875 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 30010042
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 27557546
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 27557546
★★★★★
★☆☆☆☆
Found in Text Mining only
Amenorrhea Amenorrhea Pubtator 27234217 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 26146896 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31181069
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 31181069 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31181069
★★★★★
★☆☆☆☆
Found in Text Mining only