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Tbio Protein phosphatase 1 regulatory subunit 17

Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes.

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]

 Comments

Property Summary

NCBI Gene PubMed Count 10
PubMed Score 172.66
PubTator Score 19.84

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Hyperlipoproteinemia Type IIa 7
Disease Target Count P-value
lung carcinoma 2844 4.96376354786493E-6
tuberculosis 1563 2.34570423238204E-5
pituitary cancer 1972 0.00280243278755794
ependymoma 2514 0.00439606155576668
Disease Target Count
Hypercholesterolemia, Familial 18

Expression

  Differential Expression (4)

Disease log2 FC p
ependymoma -1.100 0.004
tuberculosis -2.100 0.000
lung carcinoma 1.600 0.000
pituitary cancer -1.200 0.003

Synonym

Accession O96001 B4DE58 Q9UDQ0
Symbols GSBS
C7orf16

Gene

PPP1R17

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG
Xenopus OMA EggNOG

 GO Function (1)

 GO Component (1)

 GO Process (3)

 Compartment GO Term (1)

 HCA RNA Cell Line (19)

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Pathway (2)

 UniProt Keyword (6)

Gene RIF (4)

PMID Text
22340725 G-substrate plays a role in the NO-sGC-cGMP-PKG pathway, cerebellum-dependent long-term memory, & neuroprotection of the ventral tegmentum and retina. Review.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
12955585 Observational study of gene-disease association. (HuGE Navigator)
12955585 Single nucleotide polymorphism in the GSBS gene is associated with hypercholesterolemia

AA Sequence 

MMSTEQMQPLELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKPRKGKNVQATLNVESDQKKPRRKDTPA      1 - 70
LHIPPFIPGVFSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTPALHMSPFAAGVTLLRDERPK     71 - 140
AIVEDDEKDGDKIAI                                                           141 - 155
//

Text Mined References (11)

PMID Year Title
22340725 2012 G-substrate: the cerebellum and beyond.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12955585 2003 A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.
12853948 2003 The DNA sequence of human chromosome 7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10051666 1999 Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells.
9920894 1999 Phosphorylation-dependent inhibition of protein phosphatase-1 by G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent protein kinase.
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