Recombinant Human ATP-dependent translocase ABCB1 (ABCB1), partial

Function

Translocates drugs and phospholipids across the membrane (PubMed:2897240, PubMed:35970996, PubMed:8898203, PubMed:9038218, PubMed:35507548). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins (PubMed:8898203). Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:2897240, PubMed:35970996, PubMed:9038218)

Subcellular Location

Cell membrane (Multi-pass membrane protein); Apical cell membrane; Cytoplasm

Disease Association

Inflammatory 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] | Encephalopathy, acute transient (ENPAT) : An autosomal recessive neurologic disorder triggered by specific drugs, or acute febrile or afebrile illness. Clinical features include encephalopathy, ataxia, spasticity, pyramidal signs, diplopia, vomiting, and coma. Symptoms fully resolve within few days. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in small intestine (PubMed:28408210). Expressed in liver, kidney and brain

Subunit

Interacts with PSMB5. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1

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• PubMed: CI-7CAL9GH7VEPAE (JAN-)
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