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The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the ... See more...
Aliases for ABCB11 Gene
Aliases for ABCB11 Gene
- ATP Binding Cassette Subfamily B Member 11 2 3 5
- Bile Salt Export Pump 2 3 4
- ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11 2 3
- Progressive Familial Intrahepatic Cholestasis 2 2 3
- ATP-Binding Cassette Sub-Family B Member 11 3 4
- ABC Member 16, MDR/TAP Subfamily 2 3
- PFIC-2 2 3
- ABC16 2 3
- BSEP 3 4
External Ids for ABCB11 Gene
- HGNC: 42
- NCBI Entrez Gene: 8647
- Ensembl: ENSG00000073734
- OMIM®: 603201
- UniProtKB/Swiss-Prot: O95342
Previous HGNC Symbols for ABCB11 Gene
- BSEP
- PFIC2
Previous GeneCards Identifiers for ABCB11 Gene
- GC02M167831
- GC02M168321
- GC02M169743
- GC02M169981
- GC02M169604
- GC02M169487
- GC02M161675
Summaries for ABCB11 Gene
-
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCB11 Gene
ABCB11 (ATP Binding Cassette Subfamily B Member 11) is a Protein Coding gene. Diseases associated with ABCB11 include Cholestasis, Progressive Familial Intrahepatic, 2 and Cholestasis, Benign Recurrent Intrahepatic, 2. Among its related pathways are Statin Pathway and Farnesoid X Receptor Pathway. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB1.
UniProtKB/Swiss-Prot Summary for ABCB11 Gene
-
Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269).
Additional gene information for ABCB11 Gene
- HGNC (42)
- NCBI Entrez Gene (8647)
- Ensembl (ENSG00000073734)
- OMIM® (603201)
- UniProtKB/Swiss-Prot (O95342)
- Open Targets Platform(ENSG00000073734)
- Monarch Initiative
- Alliance of Genome Resources
- Search for ABCB11 at DataMed
- Search for ABCB11 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCB11 Gene
Genomics for ABCB11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ABCB11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ABCB11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCB11
- Top Transcription factor binding sites by QIAGEN in the ABCB11 gene promoter:
-
- aMEF-2
- c-Myc
- FOXO4
- Max1
- MEF-2A
- Pax-2
- Pax-2a
- Pax-2b
- USF-1
- USF1
Genomic Locations for ABCB11 Gene
Latest Assembly
- chr2:168,915,468-169,031,396
- (GRCh38/hg38)
- Size:
- 115,929 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:169,777,291-169,887,834
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 110,544 bases
- Orientation:
- Minus strand
Alternative Locations (GRCh38/hg38)
- chr2(ALT_REF_LOCI_1):107,408-123,061 (-)
Genomic View for ABCB11 Gene
Genes around ABCB11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q31.1 by HGNC
- 2q31.1 by Entrez Gene
- 2q31.1 by Ensembl
ABCB11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ABCB11 Gene
Proteins for ABCB11 Gene
-
Protein details for ABCB11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95342-ABCBB_HUMAN
- Recommended name:
- Bile salt export pump
- Protein Accession:
- O95342
- Q53TL2
- Q9UNB2
Protein attributes for ABCB11 Gene
- Size:
- 1321 amino acids
- Molecular mass:
- 146407 Da
- Quaternary structure:
-
- Interacts with HAX1 (By similarity). Interacts with the adapter protein complex 2 (AP-2) throught AP2A2 or AP2A1; this interaction regulates cell membrane expresion of ABCB11 through its internalization in a clathrin-dependent manner and its subsequent degradation (PubMed:22262466).
Protein Expression for ABCB11 Gene
Selected DME Specific Peptides for ABCB11 Gene
- O95342:
-
- GWKLTLV
- KILLLDE
- ENIRYGR
- LDEATSALDTESE
- VIAHRLSTIQNAD
- QRIAIARA
- KQRVAIA
- LLLDEATSALD
- ALDKAREGRT
- ALDNESE
- VSQEPVLF
- QRVAIAR
- AHRLSTI
- VIAHRLST
Post-translational modifications for ABCB11 Gene
- N-glycosylated.
- Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11.
-
Glycosylation at Asn109, Asn116, Asn122, and Asn125
- NX_O95342 (NX_O95342-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ABCB11 Gene
Antibodies for research
- LifeSpan BioSciences ABCB11 / BSEP Monoclonal Antibody
- G Biosciences Immunotag™ ABCB11 Antibody
- NSJ Bioreagents ABCB11 Antibody
- Novus Biologicals Antibodies for ABCB11
-
Abcam antibodies for ABCB11
- Invitrogen Antibodies for ABCB11 (AFLGC-ABCB11)
-
Boster Bio Antibodies for ABCB11
-
Custom Antibody ServicesProSci Antibodies for ABCB11
-
Santa Cruz Biotechnology (SCBT) Antibodies for ABCB11
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ABCB11
- Origene Custom Protein Services for ABCB11
- Novus Biologicals proteins for ABCB11
- antibodies-online: Show 8 available ABCB11 Proteins ranked by validation data
- Compare Top ABCB11 Proteins
-
Quality Products:
Assay products for research
- G Biosciences Immunotag™ Bile salt export pump ELISA Kit
- antibodies-online: Show 14 available ABCB11 Elisa Kits ranked by validation data
- Compare Top ABCB11 Elisa Kits
-
Quality Products:
Domains & Families for ABCB11 Gene
Gene Families for ABCB11 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for ABCB11 Gene
Suggested Antigen Peptide Sequences for ABCB11 Gene
- GenScript: Design optimal peptide antigens:
-
- ATP-binding cassette sub-family B member 11 (ABCBB_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95342UniProtKB/Swiss-Prot:
ABCBB_HUMAN :- Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
- Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
- Domain:
-
- Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
- Family:
-
- Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily.
Function for ABCB11 Gene
Molecular function for ABCB11 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + cholate(in) + H2O = ADP + cholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50048, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29747, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + taurocholate(in) = ADP + H(+) + phosphate + taurocholate(out); Xref=Rhea:RHEA:50052, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36257, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:15901796, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:18985798, ECO:0000269|PubMed:19228692, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:20398791, ECO:0000269|PubMed:22262466, ECO:0000269|PubMed:24711118, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:32203132};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + glycocholate(in) + H2O = ADP + glycocholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50056, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29746, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:32203132};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + glycochenodeoxycholate(in) + H2O = ADP + glycochenodeoxycholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50060, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36252, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + taurochenodeoxycholate(in) = ADP + H(+) + phosphate + taurochenodeoxycholate(out); Xref=Rhea:RHEA:50064, ChEBI:CHEBI:9407, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + glycoursodeoxycholate(in) + H2O = ADP + glycoursodeoxycholate(out) + H(+) + phosphate; Xref=Rhea:RHEA:50068, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:132030, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + tauroursodeoxycholate(in) = ADP + H(+) + phosphate + tauroursodeoxycholate(out); Xref=Rhea:RHEA:50072, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:132028, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:32203132};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + taurodeoxycholate(in) = ADP + H(+) + phosphate + taurodeoxycholate(out); Xref=Rhea:RHEA:50080, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36261, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + taurolithocholate sulfate(in) = ADP + H(+) + phosphate + taurolithocholate sulfate(out); Xref=Rhea:RHEA:50084, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58301, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16332456};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O + pravastatin(in) = ADP + H(+) + phosphate + pravastatin(out); Xref=Rhea:RHEA:63908, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:63660, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:15901796};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=30.4 uM for taurocholate {ECO:0000269|PubMed:17264802}; KM=6.2 uM for taurocholate {ECO:0000269|PubMed:16332456}; KM=21.7 uM for glycocholate {ECO:0000269|PubMed:16332456}; KM=6.6 uM for taurochenodeoxycholate {ECO:0000269|PubMed:16332456}; KM=7.5 uM for glycochenodeoxycholate {ECO:0000269|PubMed:16332456}; KM=9.5 uM for taurolithocholate sulfate {ECO:0000269|PubMed:16332456}; KM=4.61 uM for taurocholate {ECO:0000269|PubMed:15791618}; KM=4.64 uM for taurocholate {ECO:0000269|PubMed:15901796}; KM=124 uM for pravastatin {ECO:0000269|PubMed:15901796}; KM=19.9 uM for taurocholate {ECO:0000269|PubMed:18985798}; Vmax=232 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:17264802}; Vmax=2510 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:16332456}; Vmax=2310 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:15791618}; Vmax=4290 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:15901796}; Vmax=1220 pmol/min/mg enzyme for pravastatin transport {ECO:0000269|PubMed:15901796}; Vmax=98.5 pmol/min/mg enzyme for taurocholate transport {ECO:0000269|PubMed:18985798};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- The uptake of taurocholate is inhibited by taurolithocholate sulfate with an IC(50) of 9 uM (PubMed:16332456). Pravastatin competitively inhibits the transport of taurocholic acid (PubMed:18985798, PubMed:15901796). Cyclosporin A, glibenclamide, rifampicin and troglitazonestrongly competitively inhibit the transport activity of taurocholate (PubMed:18985798, PubMed:32203132). The canalicular transport activity of taurocholate is strongly dependent on canalicular membrane cholesterol content (PubMed:19228692). The uptake of taurocholate is increased by short- and medium-chain fatty acids (PubMed:20398791). Cholesterol increases transport capacity of taurocholate without affecting the affinity for the substrate (PubMed:24711118).
- GENATLAS Biochemistry:
- ATP binding cassette superfamily,subfamily B (MDR/TAP) member 11,expressed in the canalicular microvilli and subcanicular vesicles of the hepatocytes
Enzyme Numbers (IUBMB) for ABCB11 Gene
Phenotypes From GWAS Catalog for ABCB11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005215 | transporter activity | TAS | 9806540 |
| GO:0005515 | protein binding | IPI | 22262466 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008554 | sodium-exporting ATPase activity, phosphorylative mechanism | TAS | 9806540 |
Phenotypes for ABCB11 Gene
- MGI mutant phenotypes for ABCB11:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ABCB11:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Large nuclei
- Decreased shRNA abundance (Z-score < -2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in pancreas lineage
Animal Models for ABCB11 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ABCB11 - Starting at $85 >
- * ABCB11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ABCB11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCB11
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCB11
miRNA for ABCB11 Gene
- miRTarBase miRNAs that target ABCB11
-
- hsa-miR-33a-5p (MIRT006901)
- hsa-miR-6807-5p (MIRT519041)
- hsa-miR-7151-3p (MIRT519042)
- hsa-miR-5095 (MIRT519043)
- hsa-miR-4745-3p (MIRT519044)
- hsa-miR-1538 (MIRT519045)
- hsa-miR-6720-3p (MIRT519046)
- hsa-miR-6504-3p (MIRT519047)
- hsa-miR-4433a-3p (MIRT519048)
- hsa-miR-4433b-3p (MIRT519049)
- hsa-miR-449b-3p (MIRT519050)
- hsa-miR-4700-3p (MIRT519051)
- mmu-miR-1905 (MIRT579484)
- hsa-miR-4307 (MIRT661008)
- hsa-miR-7152-5p (MIRT661010)
- hsa-miR-3074-5p (MIRT661011)
- hsa-miR-138-2-3p (MIRT661012)
- hsa-miR-1266-3p (MIRT661013)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCB11
- Browse OriGene Inhibitory RNA Products For ABCB11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11
Clone products for research
- Applied Biological Materials (abm): Clones for ABCB11 - Starting at $45 >
- * ABCB11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ABCB11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCB11
Cell Lines for research
-
Horizon Cell Lines for ABCB11
No data available for Transcription Factor Targets and HOMER Transcription for ABCB11 Gene
Localization for ABCB11 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ABCB11 Gene
- Apical cell membrane. Multi-pass membrane protein. Recycling endosome membrane. Multi-pass membrane protein. Endosome. Cell membrane. Multi-pass membrane protein. Note=Internalized at the canalicular membrane through interaction with the adapter protein complex 2 (AP-2) (PubMed:22262466). At steady state, localizes in the canalicular membrane but is also present in recycling endosomes. ABCB11 constantly and rapidly exchanges between the two sites through tubulo-vesicles carriers that move along microtubules. Microtubule-dependent trafficking of ABCB11 is enhanced by taurocholate and cAMP and regulated by STK11 through a PKA-mediated pathway. Trafficking of newly synthesized ABCB11 through endosomal compartment to the bile canalicular membrane is accelerated by cAMP but not by taurocholate (By similarity). Cell membrane expression is up-regulated by short- and medium-chain fatty acids (PubMed:20398791). {ECO:0000250 UniProtKB:O70127, ECO:0000269 PubMed:20398791, ECO:0000269 PubMed:22262466}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| endosome | 4 |
| nucleus | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| golgi apparatus | 1 |
- Cytosol (1)
- Nucleoplasm (1)
- Plasma membrane (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005768 | endosome | IEA,ISS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9806540 |
| GO:0009986 | cell surface | IMP | 15791618 |
| GO:0016020 | membrane | IEA,TAS | 9806540 |
Pathways & Interactions for ABCB11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Synthesis of bile acids and bile salts | ||
| 2 | Statin Pathway - Generalized, Pharmacokinetics | ||
| 3 | Metabolism |
.40
|
|
| 4 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
|
| 5 | Bile secretion | ||
Pathways by source for ABCB11 Gene
3 BioSystems pathways for ABCB11 Gene
6 Reactome pathways for ABCB11 Gene
3 PharmGKB pathways for ABCB11 Gene
4 KEGG pathways for ABCB11 Gene
1 Qiagen pathway for ABCB11 Gene
- Hepatic ABC Transporters
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006631 | fatty acid metabolic process | IEA,ISS | -- |
| GO:0006699 | bile acid biosynthetic process | TAS | -- |
| GO:0006855 | drug transmembrane transport | ISS | -- |
| GO:0008206 | bile acid metabolic process | ISS | -- |
| GO:0015721 | bile acid and bile salt transport | IEA,TAS | -- |
No data available for SIGNOR curated interactions for ABCB11 Gene
Drugs & Compounds for ABCB11 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cholic acid | Approved | Pharma | Transporter, substrate, inhibitor, inducer | 0 | ||
| Daunorubicin | Approved | Pharma | Transporter, substrate | DNA topoisomerase II inhibitor | 399 | |
| deoxycholic acid | Approved | Pharma | Transporter, inducer | 51 | ||
| Dexamethasone | Approved, Investigational, Vet_approved | Pharma | Transporter, inducer | Anti-inflammatory glucocorticoid | 3149 | |
| Doxorubicin | Approved, Investigational | Pharma | Transporter, substrate | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2106 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid |
|
58814-71-4 |
|
|||
| 1,3,12-Trihydroxycholan-24-oic acid |
|
63266-91-1 |
|
|||
| 1,3,7,12-Tetrahydroxycholan-24-oic acid |
|
63266-89-7 |
|
|||
| 12a-Hydroxy-3-oxocholadienic acid |
|
13535-96-1 |
|
|||
| 12b-Hydroxy-5b-cholanoic acid |
|
15173-23-6 |
|
(3) ApexBio Compounds for ABCB11 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Elacridar | BCRP inhibitor | 143664-11-3 |
| LY335979 (Zosuquidar 3HCL) | Pgp (P-glycoprotein) inhibitor | 167465-36-3 |
| Tariquidar | P-glycoprotein inhibitor,potent and non-competitive | 206873-63-4 |
Transcripts for ABCB11 Gene
mRNA/cDNA for ABCB11 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000439188 2822 nts (view in UCSC)
- ENST00000478354 576 nts (view in UCSC)
- ENST00000647920 452 nts (view in UCSC)
- ENST00000648875 411 nts (view in UCSC)
- ENST00000649448 2983 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ABCB11 - Starting at $85 >
- * ABCB11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ABCB11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCB11
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCB11
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCB11
- Browse OriGene Inhibitory RNA Products For ABCB11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB11
Clone products for research
- Applied Biological Materials (abm): Clones for ABCB11 - Starting at $45 >
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Relevant External Links for ABCB11 Gene
- GeneLoc Exon Structure for
- ABCB11
Expression for ABCB11 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
mRNA differential expression in normal tissues according to GTEx for ABCB11 Gene
This gene is overexpressed in Liver (x34.7) and Testis (x4.7).
This gene is overexpressed in Urine (18.7), Liver (17.7), Placenta (8.3), and Gallbladder (8.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCB11 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCB11
SOURCE GeneReport for Unigene cluster for ABCB11 Gene:
Hs.658439mRNA Expression by UniProt/SwissProt for ABCB11 Gene:
O95342-ABCBB_HUMAN
Tissue specificity:
Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ.
Evidence on tissue expression from TISSUES for ABCB11 Gene
- Liver(4.8)
- Gall bladder(2.5)
- Intestine(2.3)
- Kidney(2.3)
- Blood(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCB11 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- urinary
Regions:
Head and neck:
- brain
- eye
- head
- mouth
- salivary gland
Thorax:
- breast
- esophagus
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
Pelvis:
- testicle
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood vessel
- coagulation system
- skin
Primer products for research
-
OriGene qPCR primer pairs for ABCB11
Gene Expression Assays for research
No data available for Protein tissue co-expression partners for ABCB11 Gene
Orthologs for ABCB11 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ABCB11 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ABCB11 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ABCB11 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Abcb11 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Abcb11 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ABCB11 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCB11 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ABCB11 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100489579 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | abcb11b 29 30 |
|
OneToOne | |
| Dr.28700 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mdr50 30 31 |
|
ManyToMany | |
| Mdr49 30 |
|
ManyToMany | |||
| Mdr65 30 31 |
|
ManyToMany | |||
| CG10226 30 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | pgp-1 31 |
|
|
|
| pgp-2 31 |
|
|
|||
| pgp-4 30 31 |
|
ManyToMany | |||
| pgp-12 31 |
|
|
|||
| pgp-5 31 |
|
|
|||
| pgp-15 31 |
|
|
|||
| pgp-13 31 |
|
|
|||
| pgp-10 31 |
|
|
|||
| pgp-6 31 |
|
|
|||
| pgp-7 31 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | STE6 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne |
- Species where no ortholog for ABCB11 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)
- 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)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
Evolution for ABCB11 Gene
- ENSEMBL:
- Gene Tree for ABCB11 (if available)
- TreeFam:
- Gene Tree for ABCB11 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ABCB11: view image
- Alliance of Genome Resources:
- Additional Orthologs for ABCB11
Paralogs for ABCB11 Gene
Paralogs for ABCB11 Gene
(15) SIMAP similar genes for ABCB11 Gene using alignment to 3 proteins:
- ABCBB_HUMAN
- H7C486_HUMAN
- Q53S60_HUMAN
Variants for ABCB11 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCB11 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1014336 | Uncertain Significance: not provided | 168,972,043(-) |
A/T NM_003742.4(ABCB11):c.1442T>A (p.Val481Glu) |
MISSENSE | |
| 1028652 | Pathogenic: Benign recurrent intrahepatic cholestasis type 2 | 168,944,726(-) |
CT/C NM_003742.4(ABCB11):c.2488del (p.Arg830fs) |
FRAMESHIFT | |
| 1033612 | Pathogenic: Benign recurrent intrahepatic cholestasis type 2 | 168,923,655(-) |
G/T NM_003742.4(ABCB11):c.3933C>A (p.Tyr1311Ter) |
NONSENSE | |
| 837780 | Likely Pathogenic: Progressive familial intrahepatic cholestasis 2; not provided | 168,957,963(-) |
C/A NM_003742.4(ABCB11):c.2343+1G>T |
SPLICE_DONOR | |
| 841658 | Pathogenic: not provided | 168,970,199(-) |
AC/A NM_003742.4(ABCB11):c.1654del (p.Val552fs) |
FRAMESHIFT |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2089n106 | CNV | deletion | 24896259 |
| dgv4103n100 | CNV | loss | 25217958 |
| esv1429755 | CNV | insertion | 17803354 |
| esv1679312 | CNV | insertion | 17803354 |
| esv2721109 | CNV | deletion | 23290073 |
| esv3419131 | CNV | duplication | 20981092 |
| esv3560510 | CNV | deletion | 23714750 |
| esv8790 | CNV | loss | 19470904 |
| nsv1000245 | CNV | loss | 25217958 |
| nsv1013528 | CNV | gain | 25217958 |
| nsv1072044 | CNV | deletion | 25765185 |
| nsv1120388 | CNV | tandem duplication | 24896259 |
| nsv459943 | CNV | loss | 19166990 |
| nsv583599 | CNV | gain | 21841781 |
| nsv583600 | CNV | loss | 21841781 |
| nsv583601 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
8.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.71;
66.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ABCB11 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB11 Gene
Disorders for ABCB11 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cholestasis, progressive familial intrahepatic, 2 |
|
|
| cholestasis, benign recurrent intrahepatic, 2 |
|
|
| progressive familial intrahepatic cholestasis |
|
|
| intrahepatic cholestasis of pregnancy |
|
|
| cholestasis, benign recurrent intrahepatic, 1 |
|
Search ABCB11 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ABCBB_HUMAN- Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269 PubMed:10579978, ECO:0000269 PubMed:11815775, ECO:0000269 PubMed:15791618, ECO:0000269 PubMed:18829893, ECO:0000269 PubMed:20010382, ECO:0000269 PubMed:24969679, ECO:0000269 PubMed:29507376, ECO:0000269 PubMed:9806540}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269 PubMed:15300568, ECO:0000269 PubMed:16039748, ECO:0000269 PubMed:24711118}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for ABCB11
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ABCB11 Gene
Publications for ABCB11 Gene
- A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. (PMID: 9806540) Strautnieks SS … Thompson RJ (Nature genetics 1998) 2 3 4 22 72
- Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability. (PMID: 20010382) Ho RH … Kim RB (Pharmacogenetics and genomics 2010) 3 4 22 40
- Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. (PMID: 17264802) Lang C … Pauli-Magnus C (Pharmacogenetics and genomics 2007) 3 4 22 40
- Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. (PMID: 15791618) Hayashi H … Sugiyama Y (Hepatology (Baltimore, Md.) 2005) 3 4 22 72
- Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. (PMID: 16039748) Noe J … Pauli-Magnus C (Journal of hepatology 2005) 3 4 22 72
ExternalLinks
Products for ABCB11 Gene
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Sources for ABCB11 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
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- (65) Reactome
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