AP1S1 adaptor related protein complex 1 subunit sigma 1
Gene ID: 1174, updated on 5-Mar-2024Gene type: protein coding
Also known as: AP19; EKV3; CLAPS1; MEDNIK; SIGMA1A
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- Go to complete Gene record for AP1S1
- Go to Variation Viewer for AP1S1 variants
Summary
The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
Associated conditions
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| Description | Tests |
|---|---|
| MEDNIK syndrome | See labs |
Genomic context
- Location:
- 7q22.1
- Sequence:
- Chromosome: 7; NC_000007.14 (101154476..101161276)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AP1S1 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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