AP3S1 adaptor related protein complex 3 subunit sigma 1
Gene ID: 1176, updated on 10-Oct-2024Gene type: protein coding
Also known as: CLAPS3; Sigma3A
- See all available tests in GTR for this gene
- Go to complete Gene record for AP3S1
- Go to Variation Viewer for AP3S1 variants
Summary
This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Genomic context
- Location:
- 5q22.3-q23.1
- Sequence:
- Chromosome: 5; NC_000005.10 (115841935..115914081)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AP3S1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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