Entity Details

Primary name ABCB1
Entity type gene
Source Source Link

Details

PrimaryID5243
RefseqGeneNG_011513
SymbolABCB1
NameATP binding cassette subfamily B member 1
Chromosome7
Location7q21.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-01
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsMDR1_HUMAN

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0008559 ABC-type xenobiotic transporter activity
GO:0009986 cell surface
GO:0015562 efflux transmembrane transporter activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016887 ATP hydrolysis activity
GO:0022857 transmembrane transporter activity
GO:0031625 ubiquitin protein ligase binding
GO:0042493 response to drug
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042910 xenobiotic transmembrane transporter activity
GO:0045332 phospholipid translocation
GO:0046865 terpenoid transport
GO:0046943 carboxylic acid transmembrane transporter activity
GO:0047484 regulation of response to osmotic stress
GO:0055085 transmembrane transport
GO:0070062 extracellular exosome
GO:0070633 transepithelial transport
GO:0072089 stem cell proliferation
GO:0090554 phosphatidylcholine floppase activity
GO:0090555 phosphatidylethanolamine flippase activity
GO:0098591 external side of apical plasma membrane
GO:0099038 ceramide floppase activity
GO:0099040 ceramide translocation
GO:0140115 export across plasma membrane
GO:0140328 floppase activity
GO:0150104 transport across blood-brain barrier
GO:1901529 positive regulation of anion channel activity
GO:1905039 carboxylic acid transmembrane transport
GO:1990961 xenobiotic detoxification by transmembrane export across the plasma membrane
GO:1990962 xenobiotic transport across blood-brain barrier
GO:2001225 regulation of chloride transport

Diseases

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Disease IDSourceNameDescription
612244 OMIMInflammatory bowel disease 13 (IBD13)A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Disease susceptibility is associated with variants affecting the gene represented in this entry.