Protein Name | transporter 1, ATP binding cassette subfamily B member |
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Organism | Homo sapiens |
Gene ID | 6890 |
Gene Symbol | TAP1 |
UniProt | Q03518 (TAP1_HUMAN), X5CKB3 (X5CKB3_HUMAN), A0A0S2Z5A6 (A0A0S2Z5A6_HUMAN), B7Z7P4 (B7Z7P4_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
122
Total Number of Articles : 117 |
Description |
transporter 1, ATP binding cassette subfamily B member |
Gene 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 involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] |
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