Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	10842
Gene name	Protein phosphatase 1 regulatory subunit 17
Gene symbol	PPP1R17
Synonyms (NCBI Gene)	C7orf16GSBS
Chromosome	7
Chromosome location	7p14.3
Summary	The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that incre

miRTarBase ID	miRNA	Experiments	Reference
MIRT016789	hsa-miR-335-5p	Microarray	18185580

7 Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004864	Function	Protein phosphatase inhibitor activity	IEA
GO:0004865	Function	Protein serine/threonine phosphatase inhibitor activity	IBA
GO:0004865	Function	Protein serine/threonine phosphatase inhibitor activity	IEA
GO:0007417	Process	Central nervous system development	NAS	10051666
GO:0010921	Process	Regulation of phosphatase activity	ISS
GO:0019212	Function	Phosphatase inhibitor activity	IEA
GO:0035556	Process	Intracellular signal transduction	NAS	10051666

MIM	HGNC	e!Ensembl
604088	16973	ENSG00000106341

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	O96001
Protein name	Protein phosphatase 1 regulatory subunit 17 (G-substrate)
Protein function	Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes.
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Highly expressed in cerebellum.
Sequence	MMSTEQMQPLELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKPRKGKNVQATLNVESDQ KKPRRKDTPALHIPPFIPGVFSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTP ALHMSPFAAGVTLLRDERPKAIVEDDEKDGDKIAI
Sequence length	155
Interactions	View interactions

KEGG Pathway
Long-term depression

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (6)
ENDOMETRIOSIS	—	GWAS catalog	31488892	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	31488892	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, familial, 1	Uncertain significance	ClinVar CTD, ClinVar CTD, ClinVar	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (11)
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25861020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37794108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37023088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	12955585		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	LHGDN	12955585		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	17670978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PPP1R17 (protein phosphatase 1 regulatory subunit 17)

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