TAP1 transporter 1, ATP binding cassette subfamily B member
Gene ID: 6890, updated on 14-Nov-2024Gene type: protein coding
Also known as: APT1; PSF1; ABC17; ABCB2; PSF-1; RING4; TAP1N; MHC1D1; D6S114E; TAP1*0102N
- See all available tests in GTR for this gene
- Go to complete Gene record for TAP1
- Go to Variation Viewer for TAP1 variants
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies susceptibility loci for IgA nephropathy. GeneReviews: Not available | |
| MHC class I deficiency MedGen: C1858266GeneReviews: Not available | See labs |
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (32845209..32853704, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TAP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TAP1 database
- TAP1base: Mutation registry for TAP1 deficiency
- Variation ViewerRelated Variants
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