ABCB11 ATP binding cassette subfamily B member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABCB11provided by HGNC
Official Full Name: ATP binding cassette subfamily B member 11provided by HGNC
Primary source: HGNC:HGNC:42
See related: Ensembl:ENSG00000073734 MIM:603201; AllianceGenome:HGNC:42
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BSEP; PGY4; SPGP; ABC16; BRIC2; PFIC2; PFIC-2
Summary: 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]
Expression: Biased expression in liver (RPKM 10.4), testis (RPKM 2.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (168915390..169031324, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (169389027..169507061, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (169777291..169887834, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Title: Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Cav-1 regulates the bile salt export pump on the canalicular membrane of hepatocytes by PKCalpha-associated signalling under cholesterol stimulation.
Title: Cav-1 regulates the bile salt export pump on the canalicular membrane of hepatocytes by PKCα-associated signalling under cholesterol stimulation.
Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP.
Title: Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP.
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Title: Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Title: Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Title: Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Title: Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.
Title: A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.
The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.
Title: The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.
[Research on the relationship between V444A mutation of ABCB11 gene and primary intrahepatic stone].
Title: [Research on the relationship between V444A mutation of ABCB11 gene and primary intrahepatic stone].

Submit: New GeneRIF Correction See all GeneRIFs (127)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Benign recurrent intrahepatic cholestasis type 2 MedGen: C2608083 OMIM: 605479 GeneReviews: ATP8B1 Deficiency	Compare labs
Progressive familial intrahepatic cholestasis type 2 MedGen: C3489789 OMIM: 601847 GeneReviews: ATP8B1 Deficiency, Pediatric Genetic Cholestatic Liver Disease Overview	Compare labs

EBI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 10 genomic loci influence hemoglobin A&#x000e2;&#x00082;&#x00081;(C) levels via glycemic and nonglycemic pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-80916 (e-PCR)
- UniSTS:102555

RH120938 (e-PCR)
- UniSTS:133797

ABCB11_675 (e-PCR)
- UniSTS:276947

D2S2060 (e-PCR)
- UniSTS:2023

MARC_23799-23800:1027535309:1 (e-PCR)
- UniSTS:268778

RH66728 (e-PCR)
- UniSTS:28153

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ABC-type bile acid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ABC-type bile acid transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ABC-type bile acid transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ABC-type bile acid transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ABC-type bile acid transporter activity	TAS Traceable Author Statement more info
enables ABC-type xenobiotic transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ABC-type xenobiotic transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables bile acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables bile acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables canalicular bile acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables canalicular bile acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables canalicular bile acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables canalicular bile acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables carbohydrate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid and bile salt transport	IDA Inferred from Direct Assay more info	PubMed
involved_in bile acid and bile salt transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bile acid and bile salt transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in bile acid and bile salt transport	TAS Traceable Author Statement more info
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in bile acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in bile acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bile acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in canalicular bile acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in canalicular bile acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in canalicular bile acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canalicular bile acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in carbohydrate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bile acid secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of bile acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic export from cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic export from cell	ISS Inferred from Sequence or Structural Similarity more info
involved_in xenobiotic metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in xenobiotic transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
NOT located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in intercellular canaliculus	IEA Inferred from Electronic Annotation more info
located_in intracellular canaliculus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in recycling endosome membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: bile salt export pump

Names: ABC member 16, MDR/TAP subfamily; ATP-binding cassette sub-family B member 11; ATP-binding cassette, sub-family B (MDR/TAP), member 11; progressive familial intrahepatic cholestasis 2; sister p-glycoprotein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007374.2 RefSeqGene

Range

5073..115616

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1199

mRNA and Protein(s)

NM_003742.4 → NP_003733.2 bile salt export pump

See identical proteins and their annotated locations for NP_003733.2

Status: REVIEWED

Source sequence(s)

AC008177, AC069137, AF091582, CB161524

Consensus CDS

CCDS46444.1

UniProtKB/Swiss-Prot

O95342, Q53TL2, Q9UNB2

Related

ENSP00000497931.1, ENST00000650372.1

Conserved Domains (1) summary

PTZ00265
Location:21 → 1314

PTZ00265; multidrug resistance protein (mdr1); Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

168915390..169031324 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017005165.2 → XP_016860654.1 bile salt export pump isoform X3
XM_011512078.3 → XP_011510380.1 bile salt export pump isoform X1

See identical proteins and their annotated locations for XP_011510380.1

Conserved Domains (3) summary

cd03249
Location:1112 → 1351

ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins

PTZ00265
Location:52 → 1348

PTZ00265; multidrug resistance protein (mdr1); Provisional

pfam00664
Location:101 → 405

ABC_membrane; ABC transporter transmembrane region
XM_006712817.4 → XP_006712880.1 bile salt export pump isoform X2

See identical proteins and their annotated locations for XP_006712880.1

Conserved Domains (3) summary

cd03249
Location:1092 → 1331

ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins

PTZ00265
Location:43 → 1328

PTZ00265; multidrug resistance protein (mdr1); Provisional

pfam00664
Location:81 → 385

ABC_membrane; ABC transporter transmembrane region
XM_017005166.2 → XP_016860655.1 bile salt export pump isoform X4
XM_017005167.2 → XP_016860656.1 bile salt export pump isoform X6

UniProtKB/TrEMBL

B4DYQ0

Related

ENSP00000497165.1, ENST00000649448.1
XM_011512080.3 → XP_011510382.1 bile salt export pump isoform X5

Conserved Domains (4) summary

cd03249
Location:454 → 691

ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins

COG1132
Location:170 → 694

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

pfam00664
Location:101 → 405

ABC_membrane; ABC transporter transmembrane region

cl00549
Location:794 → 921

ABC_membrane; ABC transporter transmembrane region