PPP6R1 protein phosphatase 6 regulatory subunit 1
Gene ID: 22870, updated on 14-Nov-2024Gene type: protein coding
Also known as: PP6R1; SAPS1; SAP190; KIAA1115
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- Go to complete Gene record for PPP6R1
- Go to Variation Viewer for PPP6R1 variants
Summary
Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
Genomic context
- Location:
- 19q13.42
- Sequence:
- Chromosome: 19; NC_000019.10 (55228218..55259017, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPP6R1 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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