PPP1R17 - protein phosphatase 1 regulatory subunit 17 Gene

Also Known as GSBS; C7orf16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10842

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10990 PPP1R17 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PPP1R17 NCBI