PPP1R17 (protein phosphatase 1 regulatory subunit 17)

Gene

• Entrez ID: 10842
• Gene name: Protein phosphatase 1 regulatory subunit 17
• Gene symbol: PPP1R17
• Synonyms (NCBI Gene): C7orf16, GSBS
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 604088
• HGNC: 16973
• e!Ensembl: ENSG00000106341

Protein

• UniProt ID: 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.
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in cerebellum.
• Sequence:

  MMSTEQMQPLELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKPRKGKNVQATLNVESDQ
  KKPRRKDTPALHIPPFIPGVFSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTP
  ALHMSPFAAGVTLLRDERPKAIVEDDEKDGDKIAI

• Sequence length: 155

Pathways

KEGG:

Long-term depression

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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