Gene

abcb11a

ID
ZDB-GENE-050517-13
Name
ATP-binding cassette, sub-family B (MDR/TAP), member 11a
Symbol
abcb11a Nomenclature History
Previous Names
  • fc21d02
  • wu:fc21d02
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to enable ABC-type bile acid transporter activity and canalicular bile acid transmembrane transporter activity. Predicted to be involved in canalicular bile acid transport and transmembrane transport. Predicted to be located in membrane. Predicted to be active in apical plasma membrane. Is expressed in intestine. Human ortholog(s) of this gene implicated in benign recurrent intrahepatic cholestasis 2; intrahepatic cholestasis; liver cirrhosis; and progressive familial intrahepatic cholestasis 2. Orthologous to human ABCB11 (ATP binding cassette subfamily B member 11).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Ellis et al., 2017
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa18599Allele with one point mutationUnknownSplice SiteENU
sa18968Allele with one point mutationUnknownSplice SiteENU
sa21601Allele with one point mutationUnknownSplice SiteENU
sa34768Allele with one point mutationUnknownSplice SiteENU
sa44714Allele with one point mutationUnknownUnknownENU
sa45380Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
No data available
Human Disease
Associated With abcb11a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
benign recurrent intrahepatic cholestasis 2 Alliance Cholestasis, benign recurrent intrahepatic, 2 605479
progressive familial intrahepatic cholestasis 2 Alliance Cholestasis, progressive familial intrahepatic 2 601847
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Associated With abcb11a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017871 ABC transporter-like, conserved site
Domain IPR003439 ABC transporter-like, ATP-binding domain
Domain IPR003593 AAA+ ATPase domain
Domain IPR011527 ABC transporter type 1, transmembrane domain
Family IPR039421 Type 1 protein exporter
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Domain Details Per Protein
Protein Additional Resources Length AAA+ ATPase domain ABC transporter-like, ATP-binding domain ABC transporter-like, conserved site ABC transporter type 1, transmembrane domain ABC transporter type 1, transmembrane domain superfamily P-loop containing nucleoside triphosphate hydrolase Type 1 protein exporter
UniProtKB:F1QSX6 InterPro 1320
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 9
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA abcb11a-201 (1) Ensembl 3,963 nt
mRNA abcb11a-202 (1) Ensembl 4,922 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-278B7
EncodesESTfc21d02
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanABCB112
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MouseAbcb112
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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