Antigen peptide transporter 1 (IPR013306)
Short name: Tap1/ABCB2
- ABC transporter Tap-like (IPR013305)
- Antigen peptide transporter 1 (IPR013306)
The ABC transporter family is a group of membrane proteins that use the hydrolysis of ATP to power the translocation of a wide variety of substrates across cellular membranes. ABC transporters minimally consist of two conserved regions: a highly conserved nucleotide-binding domain (NBD) and a less conserved transmembrane domain (TMD). Eukaryotic ABC proteins are usually organised either as full transporters (containing two NBDs and two TMDs), or as half transporters (containing one NBD and one TMD), that have to form homo- or heterodimers in order to constitute a functional protein [PMID: 11441126].
This entry represents Tap1 (also known as antigen peptide transporter 1), which is a vertebrate protein belonging to the ABC-B subfamily of the ABC transporter family. It plays a crucial role in the processing and presentation of the MHC class I-restricted antigens. It is a half transporter that forms a complex with Tap2. This complex translocates antigens from the cytoplasm to the endoplasmic reticulum for loading onto MHC class I molecules [PMID: 21205905]. The structure of Tap1 has been solved [PMID: 11532960].
Mutations in the Tap1 gene cause Bare lymphocyte syndrome 1 (BLS1), which is characterised by class I antigen deficiencies that are not accompanied by particular pathologic manifestations during the first years of life, although chronic lung disease develops in late childhood.
GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I
- PTHR24221:SF249 (PTHR24221:SF249)