MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP003061

UniProt Annotations

Entry Information
Gene Nametransporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
Protein EntryTAP1_HUMAN
UniProt IDQ03518
SpeciesHuman
Comments
Comment typeDescription
CautionIt is uncertain whether Met-1 or Met-61 is the initiator. {ECO:0000305}.
DiseaseBare lymphocyte syndrome 1 (BLS1) [MIM:604571]: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract. {ECO:0000269|PubMed:10074494}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.
FunctionInvolved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules.
InductionBy IFNG/IFN-gamma.
InteractionP0C739:BNLF2a (xeno); NbExp=8; IntAct=EBI-747259, EBI-9346744; P27797:CALR; NbExp=2; IntAct=EBI-747259, EBI-1049597; P07237:P4HB; NbExp=4; IntAct=EBI-747259, EBI-395883; P30101:PDIA3; NbExp=4; IntAct=EBI-747259, EBI-979862; Q03519:TAP2; NbExp=13; IntAct=EBI-747259, EBI-780781; O15533:TAPBP; NbExp=12; IntAct=EBI-747259, EBI-874801; Q13769:THOC5; NbExp=4; IntAct=EBI-747259, EBI-5280316;
PolymorphismThere are five common alleles; TAP1*01:01 (PSF1A), TAP1*02:01 (PSF1B), TAP1*03:01 (PSF1C), TAP1*01:04 and TAP1*x. The sequence of TAP1*01:01 is shown here.
Sequence CautionSequence=CAA47025.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA60785.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. {ECO:0000305}.
SimilarityContains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule:PRU00441}.
SimilarityContains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane.
SubunitHeterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BNLF2a. Interacts with PSMB5 and PSMB8. {ECO:0000269|PubMed:15488952, ECO:0000269|PubMed:19201886}.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03518";
Web ResourceName=TAP1base; Note=TAP1 mutation db; URL="http://structure.bmc.lu.se/idbase/TAP1base/";
  logo