| 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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