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]
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
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 |
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 |
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 |
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 |
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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