TAP1 Chromosome 6
Transporter 1, ATP binding cassette subfamily B member
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What This Gene Does
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
ATP binding cassette subfamily B
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000168394
Associated Conditions (5)
MHC class I deficiency
TAP1-related disorder
Inborn genetic diseases
Glioma susceptibility 1
MHC class I deficiency 1
Key Variants
RS2228106
Conflicting classifications of pathogenicity
MHC class I deficiency, TAP1-related disorder, MHC class I deficiency
Health Risk
RS55767910
Conflicting classifications of pathogenicity
MHC class I deficiency, TAP1-related disorder, Inborn genetic diseases
Health Risk
RS754828996
Conflicting classifications of pathogenicity
MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency
Health Risk
RS762677297
Conflicting classifications of pathogenicity
MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency
Health Risk
RS765527607
Conflicting classifications of pathogenicity
MHC class I deficiency, MHC class I deficiency
Health Risk
RS759163719
Likely pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS1331472742
Pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS1336232266
Pathogenic
MHC class I deficiency, Glioma susceptibility 1, MHC class I deficiency
Health Risk
RS1354641607
Pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS143800384
Pathogenic
MHC class I deficiency, MHC class I deficiency 1, MHC class I deficiency
Health Risk
RS1470217821
Pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
RS1770853358
Pathogenic
MHC class I deficiency, MHC class I deficiency
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2228106 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, TAP1-related disorder, MHC class I deficiency |
| RS55767910 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, TAP1-related disorder, Inborn genetic diseases |
| RS754828996 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency |
| RS762677297 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, Inborn genetic diseases, MHC class I deficiency |
| RS765527607 | Health Risk | Conflicting classifications of pathogenicity | MHC class I deficiency, MHC class I deficiency |
| RS759163719 | Health Risk | Likely pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1331472742 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1336232266 | Health Risk | Pathogenic | MHC class I deficiency, Glioma susceptibility 1, MHC class I deficiency |
| RS1354641607 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS143800384 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency 1, MHC class I deficiency |
| RS1470217821 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1770853358 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483121020 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483139594 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483139752 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483142817 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483162654 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483168330 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483177125 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483185391 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS2483190241 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS770072323 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS967210854 | Health Risk | Pathogenic | MHC class I deficiency, MHC class I deficiency |
| RS1770963822 | Health Risk | Pathogenic/Likely pathogenic | MHC class I deficiency, MHC class I deficiency |