Human Gene SLCO1B1 (ENST00000256958.3) from GENCODE V44
  Description: Homo sapiens solute carrier organic anion transporter family member 1B1 (SLCO1B1), mRNA. (from RefSeq NM_006446)
RefSeq Summary (NM_006446): 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].
Gencode Transcript: ENST00000256958.3
Gencode Gene: ENSG00000134538.3
Transcript (Including UTRs)
   Position: hg38 chr12:21,131,194-21,239,796 Size: 108,603 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr12:21,141,575-21,239,189 Size: 97,615 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:21,131,194-21,239,796)mRNA (may differ from genome)Protein (691 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SO1B1_HUMAN
DESCRIPTION: RecName: Full=Solute carrier organic anion transporter family member 1B1; AltName: Full=Liver-specific organic anion transporter 1; Short=LST-1; AltName: Full=OATP-C; AltName: Full=Sodium-independent organic anion-transporting polypeptide 2; Short=OATP-2; AltName: Full=Solute carrier family 21 member 6;
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.
SUBCELLULAR LOCATION: Basolateral cell membrane; Multi-pass membrane protein. Note=Detected in basolateral membranes of hepatocytes.
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.
DISEASE: Defects in SLCO1B1 are a cause of 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.
SIMILARITY: Belongs to the organo anion transporter (TC 2.A.60) family.
SIMILARITY: Contains 1 Kazal-like domain.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/slco1b1/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLCO1B1
Diseases sorted by gene-association score: hyperbilirubinemia, rotor type, digenic* (902), slco1b1-related altered drug metabolism* (100), statin toxicity* (25), neonatal jaundice (19), bilirubin metabolic disorder (14), glucosephosphate dehydrogenase deficiency (11), irinotecan toxicity (10), gilbert syndrome (10), dubin-johnson syndrome (7), intrahepatic cholestasis (6), pigmentation disease (5), cholestasis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.47 RPKM in Liver
Total median expression: 41.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.40104-0.167 Picture PostScript Text
3' UTR -110.70607-0.182 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011497 - Kazal-type_dom
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR004156 - OA_transporter
IPR002350 - Prot_inh_Kazal

Pfam Domains:
PF07648 - Kazal-type serine protease inhibitor domain
PF03137 - Organic Anion Transporter Polypeptide (OATP) family

ModBase Predicted Comparative 3D Structure on Q9Y6L6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0015125 bile acid transmembrane transporter activity
GO:0015347 sodium-independent organic anion transmembrane transporter activity
GO:0015349 thyroid hormone transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0015711 organic anion transport
GO:0015721 bile acid and bile salt transport
GO:0043252 sodium-independent organic anion transport
GO:0055085 transmembrane transport
GO:0070327 thyroid hormone transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AB026257 - Homo sapiens mRNA for organic anion transporter OATP-C, complete cds.
BC114376 - Homo sapiens solute carrier organic anion transporter family, member 1B1, mRNA (cDNA clone MGC:133282 IMAGE:40037364), complete cds.
AF205071 - Homo sapiens organic anion transport polypeptide 2 (OATP2) mRNA, complete cds.
AK312970 - Homo sapiens cDNA, FLJ93430, highly similar to Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.
AJ132573 - Homo sapiens mRNA for organic anion transporting polypeptide 2.
KJ898251 - Synthetic construct Homo sapiens clone ccsbBroadEn_07645 SLCO1B1 gene, encodes complete protein.
KR711873 - Synthetic construct Homo sapiens clone CCSBHm_00031577 SLCO1B1 (SLCO1B1) mRNA, encodes complete protein.
KR711874 - Synthetic construct Homo sapiens clone CCSBHm_00031581 SLCO1B1 (SLCO1B1) mRNA, encodes complete protein.
KR711875 - Synthetic construct Homo sapiens clone CCSBHm_00031585 SLCO1B1 (SLCO1B1) mRNA, encodes complete protein.
KR711876 - Synthetic construct Homo sapiens clone CCSBHm_00031586 SLCO1B1 (SLCO1B1) mRNA, encodes complete protein.
AF060500 - Homo sapiens liver specific transporter mRNA, complete cds.
BC020696 - Homo sapiens solute carrier organic anion transporter family, member 1B1, mRNA (cDNA clone IMAGE:4767073), partial cds.
BC070172 - Homo sapiens solute carrier organic anion transporter family, member 1B1, mRNA (cDNA clone IMAGE:4723019), partial cds.
BC105596 - Homo sapiens solute carrier organic anion transporter family, member 1B1, mRNA (cDNA clone IMAGE:4723035), partial cds.
BC054878 - Homo sapiens solute carrier organic anion transporter family, member 1B1, mRNA (cDNA clone IMAGE:4766537), partial cds.
BC005243 - Homo sapiens solute carrier organic anion transporter family, member 1B1, mRNA (cDNA clone IMAGE:4071550).
JD532042 - Sequence 513066 from Patent EP1572962.
JD483160 - Sequence 464184 from Patent EP1572962.
JD368588 - Sequence 349612 from Patent EP1572962.
JD500451 - Sequence 481475 from Patent EP1572962.
JD561856 - Sequence 542880 from Patent EP1572962.
JD359141 - Sequence 340165 from Patent EP1572962.
JD330888 - Sequence 311912 from Patent EP1572962.
JD258172 - Sequence 239196 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y6L6 (Reactome details) participates in the following event(s):

R-HSA-194083 SLCO1B1 transports ALB:(GCCA,TCCA) from extracellular region to cytosol
R-HSA-879575 SLCOs, SLC16A2 transport T3,T4 from extracellular region to cytosol
R-HSA-159418 Recycling of bile acids and salts
R-HSA-879518 Transport of organic anions
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-425397 Transport of vitamins, nucleosides, and related molecules
R-HSA-8957322 Metabolism of steroids
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-556833 Metabolism of lipids
R-HSA-382551 Transport of small molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7G2, ENST00000256958.1, ENST00000256958.2, LST1, NM_006446, OATP1B1, OATP2, OATPC, Q29R64, Q9NQ37, Q9UBF3, Q9UH89, Q9Y6L6, SLC21A6, SO1B1_HUMAN, uc001req.1, uc001req.2, uc001req.3, uc001req.4, uc001req.5, uc001req.6
UCSC ID: ENST00000256958.3
RefSeq Accession: NM_006446
Protein: Q9Y6L6 (aka SO1B1_HUMAN or S1B1_HUMAN)
CCDS: CCDS8685.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLCO1B1:
rotor (Rotor Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.