PPP1R17 - protein phosphatase 1 regulatory subunit 17 Gene

Homo sapiens

Also known as GSBS; C7orf16

Gene ID: 10842 | Gene type: protein coding

About PPP1R17

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:31,687,215-31,708,455 (from NCBI)

This gene has 3 transcripts (splice variants), 121 orthologues and is associated with 1 phenotype. Biased expression in adrenal (RPKM 1.4), brain (RPKM 0.7) and 3 other tissues.

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 increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

PPP1R17 Products(2)

mRNA	Protein	Name
NM_001145123.3	NP_001138595.1	protein phosphatase 1 regulatory subunit 17 isoform 2
NM_006658.5	NP_006649.2	protein phosphatase 1 regulatory subunit 17 isoform 1

Protein Preferred Names

Protein Names

protein phosphatase 1 regulatory subunit 17

G-substrate

Related Diseases

Diseases

Alias

Hypercholesterolemia, Familial, 1

Hypercholesterolemia	FHCL1
Fhc	Fh
Hyperlipoproteinemia, Type Ii	Hyperlipoproteinemia, Type Iia
Hyper-Low-Density-Lipoproteinemia	Hypercholesterolemic Xanthomatosis, Familial
Ldl Receptor Disorder	Hypercholesterolemia, Susceptibility To
Hypercholesterolemia, Familial, Modifier Of	Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
Ldl Cholesterol Level Qtl2	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial, Type 1	High Cholesterol
Increased Cholesterol	Low-Density-Lipoid-Type Hyperlipoproteinemia
Pure Hypercholesterolaemia	Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
Group A Hyperlipidaemia	Pure Hypercholesterinaemia
Cholesterolaemia	Essential Cholesterolaemia
Essential Hypercholesterolaemia	Group A Hyperlipemia
Increased Low Density Lipoprotein	Low-Density-Lipoprotein-Type
Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10990	PPP1R17 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PPP1R17	VGNC	VGNC:44886
Felis catus	PPP1R17	VGNC	VGNC:80661
Macaca mulatta	PPP1R17	VGNC	VGNC:76270
Bos taurus	PPP1R17	VGNC	VGNC:33232
Rattus norvegicus	PPP1R17	RGD	RGD:628647
Mus musculus	PPP1R17	MGD	MGI:1333876

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