PPP1R14D (protein phosphatase 1 regulatory inhibitor subunit 14D)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54866 |
| Gene name | Protein phosphatase 1 regulatory inhibitor subunit 14D |
| Gene symbol | PPP1R14D |
| Synonyms (NCBI Gene) |
CPI17-likeGBPI-1GBPI1
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| Chromosome | 15 |
| Chromosome location | 15q15.1 |
| Summary | Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by O |
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miRNA
miRNA information provided by mirtarbase database.
8
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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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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Q9NXH3 | ||||||||||
| Protein name | Protein phosphatase 1 regulatory subunit 14D (Gastrointestinal and brain-specific PP1-inhibitory protein 1) (GBPI-1) | ||||||||||
| Protein function | Inhibitor of PPP1CA. Has inhibitory activity only when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Detected in colon, intestine, kidney and brain cortex. {ECO:0000269|PubMed:12974676}. | ||||||||||
| Sequence |
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| Sequence length | 145 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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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