SLCO1B1 Gene (Protein Coding)

Solute Carrier Organic Anion Transporter Family Member 1B1

GC12P021132
GIFtS:
48
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 ... See more...

Aliases for SLCO1B1 Gene

Aliases for SLCO1B1 Gene

  • Solute Carrier Organic Anion Transporter Family Member 1B1 2 3 4 5
  • OATP1B1 2 3 4
  • OATP-C 2 3 4
  • LST-1 2 3 4
  • Solute Carrier Family 21 (Organic Anion Transporter), Member 6 2 3
  • Sodium-Independent Organic Anion-Transporting Polypeptide 2 3 4
  • Liver-Specific Organic Anion Transporter 1 3 4
  • SLC21A6 3 4
  • OATP-2 3 4
  • OATP2 3 4
  • OATPC 3 4
  • LST1 3 4
  • Solute Carrier Organic Anion Transporter Family, Member 1B1 2
  • Solute Carrier Family 21 Member 6 4
  • SLCO1B1 5
  • HBLRR 3

External Ids for SLCO1B1 Gene

Previous HGNC Symbols for SLCO1B1 Gene

  • SLC21A6

Previous GeneCards Identifiers for SLCO1B1 Gene

  • GC12P021175
  • GC12P021284
  • GC12P021058

Summaries for SLCO1B1 Gene

Entrez Gene Summary for SLCO1B1 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 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]

CIViC Summary for SLCO1B1 Gene

GeneCards Summary for SLCO1B1 Gene

SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1) is a Protein Coding gene. Diseases associated with SLCO1B1 include Hyperbilirubinemia, Rotor Type and Gilbert Syndrome. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. Gene Ontology (GO) annotations related to this gene include transporter activity and sodium-independent organic anion transmembrane transporter activity. An important paralog of this gene is SLCO1B3.

UniProtKB/Swiss-Prot Summary for SLCO1B1 Gene

  • Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver.

Tocris Summary for SLCO1B1 Gene

  • ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.

Gene Wiki entry for SLCO1B1 Gene

PharmGKB "VIP" Summary for SLCO1B1 Gene

Additional gene information for SLCO1B1 Gene

No data available for Rfam classification and piRNA Summary for SLCO1B1 Gene

Genomics for SLCO1B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLCO1B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J021131 Promoter 0.6 EPDnew 250.7 0.0 -19 0.1 JUND REST TAF1 SP1 SLCO1B1 piR-46002-109 NONHSAG010650.2 ENSG00000257062
GH12J021275 Enhancer 0.2 FANTOM5 8.3 +144.9 144854 0.1 piR-51855-007 piR-60926 GYS2 SLCO1B1 SLCO1A2 SLCO1B3 KCNJ8 HSALNG0089755 IAPP lnc-SLCO1A2-1
GH12J020906 Enhancer 0.2 FANTOM5 5.7 -224.7 -224734 0.3 HSALNG0089747-002 SLCO1B1 SLCO1B3 SLCO1A2 piR-38005-006 SLCO1B3-SLCO1B7 ENSG00000257062 HSALNG0089747-001
GH12J021009 Enhancer 0.2 FANTOM5 1.7 -121.7 -121712 0 piR-31534-123 SLCO1B3 SLCO1B1 piR-31534-124 ENSG00000257062 HSALNG0089747-001 SLCO1B7 SLCO1B3-SLCO1B7
GH12J021155 Enhancer 0.5 Ensembl 0.4 +24.6 24607 0.4 YY1 JUND HNF4A REST CREB1 HNF4G SP1 piR-32725 HSALNG0089751 SLCO1B1 NONHSAG010650.2 ENSG00000257062 IAPP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLCO1B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLCO1B1

Top Transcription factor binding sites by QIAGEN in the SLCO1B1 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • HOXA9
  • HOXA9B
  • Meis-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for SLCO1B1 Gene

Latest Assembly
chr12:21,131,194-21,239,796
(GRCh38/hg38)
Size:
108,603 bases
Orientation:
Plus strand

Previous Assembly
chr12:21,284,128-21,392,730
(GRCh37/hg19 by Entrez Gene)
Size:
108,603 bases
Orientation:
Plus strand

chr12:21,284,136-21,392,180
(GRCh37/hg19 by Ensembl)
Size:
108,045 bases
Orientation:
Plus strand

Genomic View for SLCO1B1 Gene

Genes around SLCO1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLCO1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLCO1B1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLCO1B1 Gene

Proteins for SLCO1B1 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for SLCO1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6L6-SO1B1_HUMAN
    Recommended name:
    Solute carrier organic anion transporter family member 1B1
    Protein Accession:
    Q9Y6L6
    Secondary Accessions:
    • B2R7G2
    • Q29R64
    • Q9NQ37
    • Q9UBF3
    • Q9UH89

    Protein attributes for SLCO1B1 Gene

    Size:
    691 amino acids
    Molecular mass:
    76449 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLCO1B1 Gene

Protein Expression for SLCO1B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLCO1B1 Gene

  • Glycosylation at Asn130, Asn134, Asn432, Asn503, Asn516, and Asn617
  • Modification sites at PhosphoSitePlus

Other Protein References for SLCO1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SLCO1B1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLCO1B1

No data available for DME Specific Peptides for SLCO1B1 Gene

Domains & Families for SLCO1B1 Gene

Gene Families for SLCO1B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLCO1B1 Gene

InterPro:
Blocks:
  • Protease inhibitor, Kazal-type
  • Organic anion transporter polypeptide (OATP), N-terminal

Suggested Antigen Peptide Sequences for SLCO1B1 Gene

GenScript: Design optimal peptide antigens:
  • SLCO1B1 protein (Q05CV5_HUMAN)
  • SLCO1B1 protein (Q0VGM0_HUMAN)
  • SLCO1B1 protein (Q6NSF9_HUMAN)
  • SLCO1B1 protein (Q7Z4M3_HUMAN)
  • Solute carrier family 21 member 6 (SO1B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6L6

UniProtKB/Swiss-Prot:

SO1B1_HUMAN :
  • Belongs to the organo anion transporter (TC 2.A.60) family.
Family:
  • Belongs to the organo anion transporter (TC 2.A.60) family.
genes like me logo Genes that share domains with SLCO1B1: view

Function for SLCO1B1 Gene

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Molecular function for SLCO1B1 Gene

UniProtKB/Swiss-Prot Function:
Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver.

Phenotypes From GWAS Catalog for SLCO1B1 Gene

Gene Ontology (GO) - Molecular Function for SLCO1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0015125 bile acid transmembrane transporter activity TAS --
GO:0015347 sodium-independent organic anion transmembrane transporter activity TAS,IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLCO1B1: view
genes like me logo Genes that share phenotypes with SLCO1B1: view

Human Phenotype Ontology for SLCO1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for SLCO1B1 Gene

miRTarBase miRNAs that target SLCO1B1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1B1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLCO1B1 Gene

Localization for SLCO1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLCO1B1 Gene

Basolateral cell membrane. Multi-pass membrane protein. Note=Detected in basolateral membranes of hepatocytes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLCO1B1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLCO1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane TAS 10358072
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLCO1B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLCO1B1 Gene

Pathways & Interactions for SLCO1B1 Gene

genes like me logo Genes that share pathways with SLCO1B1: view

Gene Ontology (GO) - Biological Process for SLCO1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0015711 organic anion transport TAS 10358072
GO:0015721 bile acid and bile salt transport TAS --
GO:0043252 sodium-independent organic anion transport TAS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLCO1B1: view

No data available for SIGNOR curated interactions for SLCO1B1 Gene

Drugs & Compounds for SLCO1B1 Gene

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(234) Drugs for SLCO1B1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pravastatin Approved Pharma Transporter, substrate, inhibitor 170
Rifampicin Approved Pharma Inhibitor, Inhibition, Transporter, binder Pregnane X receptor agonist; antibiotic 494
Gemfibrozil Approved Pharma Inhibitor, Inhibition, Target, activator 31
Irinotecan Approved, Investigational Pharma Transporter, inhibitor Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1504
Cyclosporin A Approved, Investigational, Vet_approved Pharma Inhibitor, Inhibition, Transporter, substrate Immunosuppressive agent, Calcineurin inhibitor 0

(88) Additional Compounds for SLCO1B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-glucopyranosiduronate
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
 58814-71-4
1,3,12-Trihydroxycholan-24-oic acid
  • 1,3,12-Trihydroxycholan-24-Oate
  • 1,3,12-Trihydroxy-5b-cholanoate
  • 1,3,12-Trihydroxy-5b-cholanoic acid
  • 1,3,12-Trihydroxy-cholan-24-Oate
  • 1,3,12-Trihydroxy-cholan-24-Oic acid
 63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-Oate
  • 1,3,7,12-Tetrahydroxy-cholan-24-Oate
  • 1,3,7,12-Tetrahydroxy-cholan-24-Oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
  • 1,3,7,12-Tetrahydroxycholanoic acid
 63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 12a-Hydroxy-3-oxocholadienate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-Oate
  • 12a-Hydroxy-3-oxo-4,6-choladien-24-Oic acid
  • 12a-Hydroxy-3-oxo-chola-4,6-dienate
  • 12a-Hydroxy-3-oxo-chola-4,6-dienic acid
 13535-96-1
12b-Hydroxy-5b-cholanoic acid
  • 12b-Hydroxy-5b-cholanoate
  • 12-Hydroxy-(5b,12b)-cholan-24-Oate
  • 12-Hydroxy-(5b,12b)-cholan-24-Oic acid
  • 12b-Hydroxy-5b-cholan-24-Oate
  • 12b-Hydroxy-5b-cholan-24-Oic acid
 15173-23-6

(3) Tocris Compounds for SLCO1B1 Gene

Compound Action Cas Number
Fumitremorgin C Inhibitor of BCRP-mediated multidrug resistance 118974-02-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
Pyrimethamine Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 58-14-0

(1) ApexBio Compounds for SLCO1B1 Gene

Compound Action Cas Number
Probenecid 57-66-9
genes like me logo Genes that share compounds with SLCO1B1: view

Drug products for research

Transcripts for SLCO1B1 Gene

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mRNA/cDNA for SLCO1B1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLCO1B1

Alternative Splicing Database (ASD) splice patterns (SP) for SLCO1B1 Gene

No ASD Table

Relevant External Links for SLCO1B1 Gene

GeneLoc Exon Structure for
SLCO1B1

Expression for SLCO1B1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLCO1B1 Gene

mRNA expression in normal human tissues for SLCO1B1 Gene
mRNA expression by BioGPS for SLCO1B1 GenemRNA expression by GTEx for SLCO1B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for SLCO1B1 Gene

This gene is overexpressed in Liver (x52.5).

Protein differential expression in normal tissues from HIPED for SLCO1B1 Gene

This gene is overexpressed in Liver (39.0), Gallbladder (18.1), and Fetal Liver (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLCO1B1 Gene



Protein tissue co-expression partners for SLCO1B1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLCO1B1

SOURCE GeneReport for Unigene cluster for SLCO1B1 Gene:

Hs.449738

mRNA Expression by UniProt/SwissProt for SLCO1B1 Gene:

Q9Y6L6-SO1B1_HUMAN
Tissue specificity: Highly expressed in liver, at the basolateral membranes of centrilobular hepatocytes. Not detected in heart, brain, placenta, lung, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte.

Evidence on tissue expression from TISSUES for SLCO1B1 Gene

  • Liver(4.8)
  • Blood(2.4)
  • Kidney(2.2)
  • Intestine(2.2)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLCO1B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • mouth
Abdomen:
  • biliary tract
  • liver
General:
  • skin
genes like me logo Genes that share expression patterns with SLCO1B1: view

Primer products for research

Orthologs for SLCO1B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLCO1B1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLCO1B1 29 30
  • 99.13 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia -- 30
  • 70 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia OATPC 30
  • 69 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Slco1b2 30
  • 64 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 64 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 51 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves SLCO1B1 29
  • 60.35 (n)
-- 30
  • 39 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 36 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slco1b3 29
  • 55.49 (n)
Species where no ortholog for SLCO1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SLCO1B1 Gene

ENSEMBL:
Gene Tree for SLCO1B1 (if available)
TreeFam:
Gene Tree for SLCO1B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLCO1B1: view image
Alliance of Genome Resources:
Additional Orthologs for SLCO1B1

Paralogs for SLCO1B1 Gene

Paralogs for SLCO1B1 Gene

(12) SIMAP similar genes for SLCO1B1 Gene using alignment to 8 proteins:

  • SO1B1_HUMAN
  • K4P1Y1_HUMAN
  • K4P403_HUMAN
  • K4PF41_HUMAN
  • Q05CV5_HUMAN
  • Q0VGM0_HUMAN
  • Q6NSF9_HUMAN
  • Q7Z4M3_HUMAN
genes like me logo Genes that share paralogs with SLCO1B1: view

Variants for SLCO1B1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLCO1B1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1034277 Pathogenic: Rotor syndrome 21,200,673(+) G/A
NM_006446.5(SLCO1B1):c.1135+1G>A 		SPLICE_DONOR
1034278 Uncertain Significance: Rotor syndrome 21,217,213(+) C/G
NM_006446.5(SLCO1B1):c.1592C>G (p.Thr531Arg) 		MISSENSE
1034279 Pathogenic: Rotor syndrome 21,224,840(+) G/A
NM_006446.5(SLCO1B1):c.1865+1G>A 		SPLICE_DONOR
1034280 Pathogenic: Rotor syndrome 21,141,575(+) A/T
NM_006446.5(SLCO1B1):c.1A>T (p.Met1Leu) 		INITIATIOR_CODON_VARIANT,MISSENSE
157243 Not Provided: Gestational diabetes mellitus uncontrolled 21,140,398(+) A/AAGAGTCAGTTGAA
NM_006446.5(SLCO1B1):c.-61-1113_84+4111dup 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLCO1B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLCO1B1 Gene

Variant ID Type Subtype PubMed ID
dgv1403n100 CNV loss 25217958
dgv1404n100 CNV loss 25217958
dgv1405n100 CNV loss 25217958
dgv2401n54 CNV loss 21841781
dgv2404n54 CNV loss 21841781
dgv2405n54 CNV loss 21841781
dgv2406n54 CNV loss 21841781
esv3580181 CNV loss 25503493
esv3580182 CNV loss 25503493
esv3628799 CNV loss 21293372
nsv1044200 CNV loss 25217958
nsv1045025 CNV gain 25217958
nsv1048033 CNV loss 25217958
nsv1054997 CNV gain 25217958
nsv1115425 CNV duplication 24896259
nsv1152912 CNV duplication 26484159
nsv469159 CNV loss 19166990
nsv515735 CNV gain+loss 19592680
nsv557718 CNV loss 21841781
nsv557723 CNV loss 21841781
nsv557724 CNV gain 21841781
nsv557725 CNV gain 21841781
nsv557728 CNV loss 21841781
nsv557729 CNV loss 21841781
nsv557732 CNV loss 21841781
nsv557733 CNV loss 21841781

Variation tolerance for SLCO1B1 Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLCO1B1 Gene

Human Gene Mutation Database (HGMD)
SLCO1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLCO1B1
Leiden Open Variation Database (LOVD)
SLCO1B1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLCO1B1 Gene

Disorders for SLCO1B1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for SLCO1B1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hyperbilirubinemia, rotor type
  • hblrr
gilbert syndrome
  • hyperbilirubinemia, gilbert type; hblrg
neonatal jaundice
  • neonatal hyperbilirubinemia
bilirubin metabolic disorder
  • hereditary hyperbilirubinemia
cholestasis
  • bile occlusion
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SO1B1_HUMAN
  • Hyperbilirubinemia, Rotor type (HBLRR) [MIM:237450]: An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO:0000269 PubMed:22232210}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SLCO1B1

Human Genome Epidemiology Navigator
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Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Open Targets Platform
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No data available for Genatlas for SLCO1B1 Gene

Publications for SLCO1B1 Gene

  1. Identification of a novel gene family encoding human liver-specific organic anion transporter LST-1. (PMID: 10358072) Abe T … Yawo H (The Journal of biological chemistry 1999) 2 3 4 22 25
  2. A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter. (PMID: 12196548) Michalski C … Konig J (The Journal of biological chemistry 2002) 3 4 22 25
  3. Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans. (PMID: 11477075) Tirona RG … Kim RB (The Journal of biological chemistry 2001) 3 4 22 40
  4. A novel human organic anion transporting polypeptide localized to the basolateral hepatocyte membrane. (PMID: 10644574) König J … Keppler D (American journal of physiology. Gastrointestinal and liver physiology 2000) 3 4 22 25
  5. A novel human hepatic organic anion transporting polypeptide (OATP2). Identification of a liver-specific human organic anion transporting polypeptide and identification of rat and human hydroxymethylglutaryl-CoA reductase inhibitor transporters. (PMID: 10601278) Hsiang B … Kirchgessner TG (The Journal of biological chemistry 1999) 3 4 22 25

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