TAPBP TAP binding protein
Gene ID: 6892, updated on 2-Nov-2024Gene type: protein coding
Also known as: TPN; TAPA; TPSN; NGS17; MHC1D3
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- Go to complete Gene record for TAPBP
- Go to Variation Viewer for TAPBP variants
Summary
This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| MHC class I deficiency MedGen: C1858266GeneReviews: Not available | See labs |
Genomic context
- Location:
- 6p21.32
- Sequence:
- Chromosome: 6; NC_000006.12 (33299694..33314078, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TAPBP 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
- TAPBP database
- TAPBPbase: Mutation registry for Tapasin deficiency
- Variation ViewerRelated Variants
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