Format

Send to:

Choose Destination

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

Gene ID: 8647, updated on 22-Aug-2020

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
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

Genomic context

See ABCB11 in Genome Data Viewer
Location:
2q31.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (168915468..169031396, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169779336..169887833, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase trafficking Neighboring gene SPC25 component of NDC80 kinetochore complex Neighboring gene glucose-6-phosphatase catalytic subunit 2 Neighboring gene dehydrogenase/reductase 9 Neighboring gene UBE2V1 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
GeneReviews: Not available
Benign recurrent intrahepatic cholestasis type 2
MedGen: C2608083 OMIM: 605479 GeneReviews: ATP8B1 Deficiency
Compare labs
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
GeneReviews: Not available
Progressive familial intrahepatic cholestasis 2
MedGen: C3489789 OMIM: 601847 GeneReviews: ATP8B1 Deficiency
Compare labs
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
bile acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
bile acid-exporting ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
bile acid-exporting ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
bile acid-exporting ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
bile acid-exporting ATPase activity TAS
Traceable Author Statement
more info
 
canalicular bile acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canalicular bile acid transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
canalicular bile acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium-exporting ATPase activity, phosphorylative mechanism TAS
Traceable Author Statement
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
xenobiotic transmembrane transporting ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
xenobiotic transmembrane transporting ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
bile acid and bile salt transport IDA
Inferred from Direct Assay
more info
PubMed 
bile acid and bile salt transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
bile acid and bile salt transport ISS
Inferred from Sequence or Structural Similarity
more info
 
bile acid and bile salt transport TAS
Traceable Author Statement
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
bile acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
canalicular bile acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canalicular bile acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
canalicular bile acid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
drug export IMP
Inferred from Mutant Phenotype
more info
PubMed 
drug export ISS
Inferred from Sequence or Structural Similarity
more info
 
drug metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
drug metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
drug transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
drug transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
phospholipid homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bile acid secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of bile acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of fatty acid beta-oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xenobiotic transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intercellular canaliculus IEA
Inferred from Electronic Annotation
more info
 
intracellular canaliculus ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
recycling endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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

  1. NG_007374.2 RefSeqGene

    Range
    5073..115616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1199

mRNA and Protein(s)

  1. NM_003742.4NP_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
    Related
    ENSP00000497931.1, ENST00000650372.1
    Conserved Domains (3) summary
    cd03249
    Location:10781317
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:211314
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:67371
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    168915468..169031396 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005165.1XP_016860654.1  bile salt export pump isoform X3

  2. XM_006712817.3XP_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:10921331
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:431328
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:81385
    ABC_membrane; ABC transporter transmembrane region
  3. XM_011512078.2XP_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:11121351
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:521348
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:101405
    ABC_membrane; ABC transporter transmembrane region
  4. XM_011512077.2XP_011510379.1  bile salt export pump isoform X1

    See identical proteins and their annotated locations for XP_011510379.1

    Conserved Domains (3) summary
    cd03249
    Location:11121351
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    PTZ00265
    Location:521348
    PTZ00265; multidrug resistance protein (mdr1); Provisional
    pfam00664
    Location:101405
    ABC_membrane; ABC transporter transmembrane region
  5. XM_017005166.1XP_016860655.1  bile salt export pump isoform X4

  6. XM_017005167.1XP_016860656.1  bile salt export pump isoform X6

  7. XM_011512081.2XP_011510383.1  bile salt export pump isoform X7

    Related
    ENSP00000497165.1, ENST00000649448.1
    Conserved Domains (4) summary
    cd03249
    Location:520759
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:183756
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:202470
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:199
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  8. XM_011512080.2XP_011510382.1  bile salt export pump isoform X5

    Conserved Domains (4) summary
    cd03249
    Location:454691
    ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins
    COG1132
    Location:170694
    MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
    pfam00664
    Location:101405
    ABC_membrane; ABC transporter transmembrane region
    cl00549
    Location:794921
    ABC_membrane; ABC transporter transmembrane region

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315909.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    107408..123061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center