Full name: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ABC17; APT1; Abcb2; Ham-1; Ham1; MTP1; PSF1; RING4; TAP; Tap-1; Y3

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. This protein forms a heterodimer with Tap2 that transports short peptides from the cytosol into the endoplasmic reticulum lumen. Mutations in the human 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, Jun 2009]

Expression: Broad expression in spleen adult (RPKM 66.8), thymus adult (RPKM 59.4) and 17 other tissues

Gene size: 9670bp

Exon count: 12