功能： disease:Defects in TAP2 are a cause of bare lymphocyte syndrome type 1 (BLS1) [MIM:604571]; also called HLA class I deficiency. BLS1 is a class I antigen deficiency that is 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.,domain:The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.,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.,induction:By interferon gamma.,online information:TAP2 mutation db,polymorphism:4 common alleles are officially recognized: TAP2*0101 (TAP2A or PSF2A or RING11A), TAP2*0102 (TAP2E), TAP2*0103 (TAP2F), and TAP2*0201 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified: TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*0202), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*0101.,polymorphism:The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva, cornea and mouth due to exocrine glands dysfunction.,similarity:Belongs to the ABC transporter family.,similarity:Belongs to the ABC transporter family. MHC peptide exporter (TC 3.A.1.209) subfamily.,similarity:Contains 1 ABC transmembrane type-1 domain.,similarity:Contains 1 ABC transporter domain.,subcellular location:The transmembrane segments seem to form a pore in the membrane.,subunit:Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein . The transmembrane segments seem to form a pore in the membrane.
功能： disease:Defects in TAP2 are a cause of bare lymphocyte syndrome type 1 (BLS1) [MIM:604571]; also called HLA class I deficiency. BLS1 is a class I antigen deficiency that is 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.,domain:The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.,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.,induction:By interferon gamma.,online information:TAP2 mutation db,polymorphism:4 common alleles are officially recognized: TAP2*0101 (TAP2A or PSF2A or RING11A), TAP2*0102 (TAP2E), TAP2*0103 (TAP2F), and TAP2*0201 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified: TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*0202), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*0101.,polymorphism:The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva, cornea and mouth due to exocrine glands dysfunction.,similarity:Belongs to the ABC transporter family.,similarity:Belongs to the ABC transporter family. MHC peptide exporter (TC 3.A.1.209) subfamily.,similarity:Contains 1 ABC transmembrane type-1 domain.,similarity:Contains 1 ABC transporter domain.,subcellular location:The transmembrane segments seem to form a pore in the membrane.,subunit:Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein . The transmembrane segments seem to form a pore in the membrane.
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