Free for academic non-profit institutions. Other users need a Commercial license

SLCO1B1 Gene(Protein Coding)

Solute Carrier Organic Anion Transporter Family Member 1B1

GCID:
GC12P021058
GIFtS:
57
Genes Participants
UDN Logo

Aliases for SLCO1B1 Gene

Aliases for SLCO1B1 Gene

  • Solute Carrier Organic Anion Transporter Family Member 1B1 2 3 5
  • 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
  • OATP1B1 3 4
  • OATP-2 3 4
  • OATP-C 3 4
  • LST-1 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
  • HBLRR 3

External Ids for SLCO1B1 Gene

Previous HGNC Symbols for SLCO1B1 Gene

  • SLC21A6

Previous GeneCards Identifiers for SLCO1B1 Gene

  • GC12P021175
  • GC12P021284

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 Statin Toxicity. Among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Gefitinib Pathway, Pharmacokinetics. 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 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 fRNAdb sequence ontologies and piRNA Summary for SLCO1B1 Gene

Genomics for SLCO1B1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SLCO1B1 Gene

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
GH12I021131 Promoter 0.7 EPDnew 550.8 0.0 -19 0.1 JUND TAF1 REST SLCO1B1 ENSG00000257062
GH12I021275 Enhancer 0.2 FANTOM5 8.3 +144.9 144854 0.1 PIR55925 GYS2 SLCO1B1 SLCO1A2 SLCO1B3 KCNJ8 GC12P021259
GH12I020906 Enhancer 0.2 FANTOM5 5.7 -224.7 -224734 0.3 SLCO1B1 SLCO1B7 SLCO1B3 SLCO1A2 GC12M020897 GC12P020879 ENSG00000257046
GH12I021009 Enhancer 0.2 FANTOM5 1.7 -121.7 -121712 0 SLCO1B7 SLCO1B3 SLCO1B1 PIR60280 ENSG00000257046
GH12I021073 Enhancer 0.3 ENCODE 0.2 -57.2 -57249 1.8 JUND SLCO1B3 ENSG00000257062 SLCO1B1 SLCO1B7 ENSG00000257046
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLCO1B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLCO1B1 gene promoter:

Genomic Locations for SLCO1B1 Gene

Genomic Locations for SLCO1B1 Gene
chr12:21,131,194-21,239,796
(GRCh38/hg38)
Size:
108,603 bases
Orientation:
Plus strand
chr12:21,284,128-21,392,730
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 isoforms=130, isoforms=134, isoforms=432, isoforms=503, posLast=516516, and posLast=617617

Other Protein References for SLCO1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for SLCO1B1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0015125 bile acid transmembrane transporter activity TAS --
GO:0015347 sodium-independent organic anion transmembrane transporter activity TAS 10358072
GO:0015349 thyroid hormone transmembrane transporter activity TAS --
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 Model Products

miRNA for SLCO1B1 Gene

miRTarBase miRNAs that target SLCO1B1

Clone Products

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
peroxisome 1
nucleus 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 10358072
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

Interacting Proteins for SLCO1B1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000256958%0d%0a9606.ENSP00000295897%0d%0a9606.ENSP00000265517%0d%0a
Selected Interacting proteins: ENSP00000256958 for SLCO1B1 Gene via STRING

Gene Ontology (GO) - Biological Process for SLCO1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
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 --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pravastatin Approved Pharma Competitive, Inhibitor, Transporter, substrate, inhibitor 154
Rifampin Approved Pharma Agonist, Target, Transporter, inhibitor, binder 376
Irinotecan Approved, Investigational Pharma Transporter, inhibitor Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1181
Gemfibrozil Approved Pharma Agonist, Transporter, inhibitor, activator 25
Cyclosporin A Approved, Investigational, Vet_approved Pharma Antagonist, Transporter, inhibitor Immunosuppressant drug, Immunosuppressive agent, Calcineurin inhibitor 0

(98) Additional Compounds for SLCO1B1 Gene - From: HMDB, Novoseek, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]estradiol-17beta-glucuronide
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • 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-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
  • 1,3,12-Trihydroxycholan-24-oate
 63266-91-1
1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oate
  • 1,3,7,12-Tetrahydroxy-Cholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholan-24-oate
  • 1,3,7,12-Tetrahydroxycholan-24-oic acid
  • 1,3,7,12-Tetrahydroxycholanoate
 63266-89-7
12a-Hydroxy-3-oxocholadienic acid
  • 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
  • 12a-Hydroxy-3-oxochola-4,6-dienate
 13535-96-1

(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

Transcripts for SLCO1B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLCO1B1 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(40) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLCO1B1 Gene

Solute carrier organic anion transporter family, member 1B1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for SLCO1B1 Gene

GeneLoc Exon Structure for
SLCO1B1
ECgene alternative splicing isoforms for
SLCO1B1

Expression for SLCO1B1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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 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, PaxDb, and MOPED for SLCO1B1 Gene



Protein tissue co-expression partners for SLCO1B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLCO1B1 Gene:

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(2.2)
  • Kidney(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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLCO1B1 Gene

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 33 34
  • 99.13 (n)
cow
(Bos Taurus)
 Mammalia -- 34
  • 70 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia OATPC 34
  • 69 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Slco1b2 34
  • 64 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 64 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 51 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves SLCO1B1 33
  • 60.35 (n)
-- 34
  • 39 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 36 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia slco1b3 33
  • 55.49 (n)
Species where no ortholog for SLCO1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SLCO1B1 Gene

Variants for SLCO1B1 Gene

Sequence variations from dbSNP and Humsavar for SLCO1B1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1056091883 uncertain-significance, Rotor syndrome 21,239,386(+) T/C 3_prime_UTR_variant
rs11045818 likely-benign, benign, Rotor syndrome, not specified 21,176,827(+) G/A coding_sequence_variant, synonymous_variant
rs11045819 likely-benign, benign, Rotor syndrome, not specified 21,176,879(+) C/A/T coding_sequence_variant, missense_variant
rs11045852 likely-benign, Rotor syndrome 21,196,951(+) A/G coding_sequence_variant, missense_variant
rs11045854 likely-benign, Rotor syndrome 21,197,100(+) G/A coding_sequence_variant, synonymous_variant

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

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

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

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

Disorders for SLCO1B1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLCO1B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperbilirubinemia, rotor type
  • hblrr
statin toxicity
neonatal jaundice
  • neonatal hyperbilirubinemia
bilirubin metabolic disorder
  • hereditary hyperbilirubinemia
glucosephosphate dehydrogenase deficiency
  • deficiency of g-6pd
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for SLCO1B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLCO1B1: view

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 58
  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 58
  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 44 58
  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 58
  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 58

Products for SLCO1B1 Gene

Sources for SLCO1B1 Gene

Content
Loading form....