Homo sapiens Protein: TAP2 | |||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||
InnateDB Protein | IDBP-81453.6 | ||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||
Gene Symbol | TAP2 | ||||||||||||||||||||||||||||
Protein Name | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | ||||||||||||||||||||||||||||
Synonyms | ABC18; ABCB3; APT2; D6S217E; PSF-2; PSF2; RING11; | ||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000364032 | ||||||||||||||||||||||||||||
InnateDB Gene | IDBG-81449 (TAP2) | ||||||||||||||||||||||||||||
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. | ||||||||||||||||||||||||||||
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:7517574}. 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 18 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 IPR013306 ABC transporter, B3 IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00664
PF13748 PF00005 |
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PRINTS |
PR01896
PR01897 |
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PIRSF | |||||||||||||||||||||||||||||
SMART |
SM00382
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TIGRFAMs | |||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||
SwissProt | Q03519 | ||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q03519 | ||||||||||||||||||||||||||||
TrEMBL | Q5JNW1 | ||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||
Entrez Gene | 6891 | ||||||||||||||||||||||||||||
UniGene | Hs.502 | ||||||||||||||||||||||||||||
RefSeq | NP_001276972 | ||||||||||||||||||||||||||||
HUGO | HGNC:44 | ||||||||||||||||||||||||||||
OMIM | 170261 | ||||||||||||||||||||||||||||
CCDS | |||||||||||||||||||||||||||||
HPRD | 01360 | ||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||
EMBL | AB073779 AF105151 AH007554 AK222823 AK223300 AK292963 BC002751 BT009906 BX296564 BX682530 CH471081 CR753889 CR762476 CR788227 CT009502 FM246456 KJ657694 KJ657696 KJ657697 L09191 L10287 M74447 M84748 U07844 X66401 X87344 Z22935 Z22936 | ||||||||||||||||||||||||||||
GenPept | AAA58648 AAA58649 AAA59841 AAA79901 AAD12059 AAD23381 AAP88908 AHW47924 AHW47958 AHW47975 BAB71769 BAD96543 BAD97020 BAF85652 CAA47027 CAA60788 CAA80522 CAA80523 CAI41935 CAQ07778 CAQ08491 CAQ10283 CAR92541 EAX03643 | ||||||||||||||||||||||||||||