AP1S3 adaptor related protein complex 1 subunit sigma 3
Gene ID: 130340, updated on 17-Jun-2024Gene type: protein coding
Also known as: PSORS15; sigma1C
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- Go to complete Gene record for AP1S3
- Go to Variation Viewer for AP1S3 variants
Summary
This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Psoriasis 15, pustular, susceptibility to | See labs |
Genomic context
- Location:
- 2q36.1
- Sequence:
- Chromosome: 2; NC_000002.12 (223755326..223837582, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AP1S3 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
- Variation ViewerRelated Variants
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