Gene content    
ABCB1 (-- by HUGO)
ATP-binding cassette, sub-family B (MDR/TAP), member 1 ---------------------------------------------
--
NCBI: 7q21.12    Ensembl: 7q21.12
MDR1_HUMANSize: 1280 amino acidsMass: 141479 Da

  • Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity)
  • Subunit: Interacts with PSMB5
  • Tissue specificity: Expressed in liver, kidney, small intestine and brain
  • Similarity:
    Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily
                          
    Contains 2 ABC transmembrane type-1 domains
                          
    Contains 2 ABC transporter domains
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001140ABC_transptr_TM_domABC transporter, transmembrane regionDomain
    IPR003439ABC_transporter-likeABC transporter relatedDomain
    IPR003593AAA+_ATPaseAAA ATPaseDomain
    IPR011527ABC_transptrTM_dom_typ1ABC transporter, transmembrane region, type 1Domain

    Disorder & Mutation    
    Source Disease
    SWISS-PROTGenetic variations in ABCB1 are associated with susceptibility to inflammatory bowel disease type 13 (IBD13) [MIM:612244]. Inflammatory bowel disease is characterized by a chronic relapsing intestinal inflammation. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may involve any part of the gastrointestinal tract, but most frequently 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. Crohn disease and ulcerative colitis are commonly classified as autoimmune diseases

    ABCB1 cross reference    
    PubMed Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene