PPP6R1 (protein phosphatase 6 regulatory subunit 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 22870 |
| Gene name | Protein phosphatase 6 regulatory subunit 1 |
| Gene symbol | PPP6R1 |
| Synonyms (NCBI Gene) |
KIAA1115PP6R1SAP190SAPS1
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| Chromosome | 19 |
| Chromosome location | 19q13.42 |
| 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 |
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miRNA
miRNA information provided by mirtarbase database.
453
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UPN7 | |||||||||||||||
| Protein name | Serine/threonine-protein phosphatase 6 regulatory subunit 1 (SAPS domain family member 1) | |||||||||||||||
| Protein function | Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous with higher expression in testis. {ECO:0000269|PubMed:16769727}. | |||||||||||||||
| Sequence |
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| Sequence length | 881 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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