Homo sapiens Protein: TAP1 | |||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||||||||
InnateDB Protein | IDBP-81570.6 | ||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||
Gene Symbol | TAP1 | ||||||||||||||||||||||||||||
Protein Name | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) | ||||||||||||||||||||||||||||
Synonyms | ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1; RING4; TAP1*0102N; TAP1N; | ||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000346206 | ||||||||||||||||||||||||||||
InnateDB Gene | IDBG-81568 (TAP1) | ||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||
Function | Involved 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. | ||||||||||||||||||||||||||||
Subcellular Localization | Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane. | ||||||||||||||||||||||||||||
Disease Associations | Bare 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:0000269PubMed:10074494}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
|
||||||||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||
InterPro |
IPR001140
ABC transporter, transmembrane domain IPR003439 ABC transporter-like IPR003593 AAA+ ATPase domain IPR005293 Antigen peptide transporter 2 IPR011527 ABC transporter type 1, transmembrane domain IPR013305 ABC transporter, ABCB2 IPR027417 P-loop containing nucleoside triphosphate hydrolase |
||||||||||||||||||||||||||||
PFAM |
PF00664
PF13748 PF00005 |
||||||||||||||||||||||||||||
PRINTS |
PR01896
|
||||||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||||||
SMART |
SM00382
|
||||||||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||
SwissProt | Q03518 | ||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q03518 | ||||||||||||||||||||||||||||
TrEMBL | X5CKB3 | ||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||
Entrez Gene | 6890 | ||||||||||||||||||||||||||||
UniGene | |||||||||||||||||||||||||||||
RefSeq | NP_001278951 | ||||||||||||||||||||||||||||
HUGO | HGNC:43 | ||||||||||||||||||||||||||||
OMIM | 170260 | ||||||||||||||||||||||||||||
CCDS | CCDS4758 | ||||||||||||||||||||||||||||
HPRD | 01359 | ||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||
EMBL | AB012645 AL669918 AL671681 AL935043 AY349134 BC014081 BX927138 CH471081 CR753889 CR762476 CR933844 KJ657694 KJ657695 KJ657697 L21204 L21205 L21206 L21207 L21208 S70256 S70274 X57521 X57522 X66401 X87344 | ||||||||||||||||||||||||||||
GenPept | AAC12902 AAC12903 AAC12904 AAC12905 AAC12906 AAD14054 AAD14056 AAH14081 AAR05812 AHW47926 AHW47943 AHW47977 BAA32814 CAA40740 CAA40741 CAA47025 CAA60785 CAI17714 CAI18140 CAI18626 CAQ08449 CAQ08495 CAQ08906 CAQ10287 EAX03647 | ||||||||||||||||||||||||||||