Transporter associated with antigen processing 1 (TAP1) is a protein that in humans is encoded by the TAP1gene. A member of the ATP-binding cassette transporter family, it is also known as ABCB2.[5][6]
Function
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.[7]
Townsend A, Trowsdale J (1993). "The transporters associated with antigen presentation". Semin. Cell Biol. 4 (1): 53–61. doi:10.1006/scel.1993.1007. PMID8453065.
Schölz C, Tampé R (2006). "The intracellular antigen transport machinery TAP in adaptive immunity and virus escape mechanisms". J. Bioenerg. Biomembr. 37 (6): 509–515. doi:10.1007/s10863-005-9500-1. PMID16691491. S2CID28129678.
Beck S, Kelly A, Radley E, Khurshid F, Alderton RP, Trowsdale J (1992). "DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing". J. Mol. Biol. 228 (2): 433–441. doi:10.1016/0022-2836(92)90832-5. PMID1453454.
Trowsdale J, Hanson I, Mockridge I, Beck S, Townsend A, Kelly A (1991). "Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters". Nature. 348 (6303): 741–744. doi:10.1038/348741a0. PMID2259383. S2CID4279033.
Spies T, Bresnahan M, Bahram S, Arnold D, Blanck G, Mellins E, Pious D, DeMars R (1991). "A gene in the human major histocompatibility complex class II region controlling the class I antigen presentation pathway". Nature. 348 (6303): 744–747. doi:10.1038/348744a0. PMID2259384. S2CID31875999.
Glynne R, Kerr LA, Mockridge I, Beck S, Kelly A, Trowsdale J (1993). "The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing". Eur. J. Immunol. 23 (4): 860–866. doi:10.1002/eji.1830230414. PMID8458375. S2CID44733094.
Beck S, Abdulla S, Alderton RP, Glynne RJ, Gut IG, Hosking LK, Jackson A, Kelly A, Newell WR, Sanseau P, Radley E, Thorpe KL, Trowsdale J (1996). "Evolutionary dynamics of non-coding sequences within the class II region of the human MHC". J. Mol. Biol. 255 (1): 1–13. doi:10.1006/jmbi.1996.0001. PMID8568858.
Chen HL, Gabrilovich D, Tampé R, Girgis KR, Nadaf S, Carbone DP (1996). "A functionally defective allele of TAP1 results in loss of MHC class I antigen presentation in a human lung cancer". Nat. Genet. 13 (2): 210–213. doi:10.1038/ng0696-210. PMID8640228. S2CID20367760.