Name | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
Symbol | TAP1 |
Aliases | APT1; PSF1; ABC17; ABCB2; RING4; D6S114E; ABC transporter, MHC 1; peptide supply factor 1; antigen peptide transporter 1; ATP-binding cassette, sub-family B, member 2; ATP-binding cassette, sub-family B (MDR/TAP), member 2; transporter, ATP-binding cassette, major histocompatibility complex, 1 |
Gene Product | - transporter 1, ATP-binding cassette, sub-family B
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Category | |
UniGene |
Hs.352018
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Reference Sequence |
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OMIM and SNP |
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Locus |
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Summary | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. |
Gene Ontology | |
Expression | EST (405 ESTs, 177 libraries) |
Tissue | Breadth ? |
CPM ? |
blood | | | bone | | | bone marrow | | | brain | | | cartilage | | | cervix | | | colon | | | ear | | | eye | | | germ cell | | | head and neck | | | heart | | | kidney | | | liver | | | lung | | | lymph node | | | mammary gland | | | muscle | | | nervous | | | oral cavity | | | ovary | | | pancreas | | | pineal gland | | | placenta | | | prostate | | | skin | | | spleen | | | stomach | | | testis | | | thyroid | | | uncharacterized tissue | | | uterus | | |
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SAGE (5982873 tags, 116 libraries) |
Tissue | Breadth ? |
CPM ? |
brain | | | colon | | | eye | | | heart | | | kidney | | | liver | | | lung | | | mammary gland | | | mesothelial tissue | | | muscle | | | nervous | | | ovary | | | pancreas | | | prostate | | | skin | | | stomach | | | uncharacterized tissue | | | vascular | | |
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Evidence | Polymorphism in Nephrotic Syndrome
Other key publications related to this gene
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