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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