PRKG1 |
Gene Facts External Data Attribution
- HGNC Symbol
- PRKG1 (HGNC:9414) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- protein kinase cGMP-dependent 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PRKGR1B, PRKG1B
- Alias symbols
- PGK, PKG, PKG1
- %HI
- 1.27(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.24(Read more about gnomAD LOEUF score)
- Cytoband
- 10q11.23-q21.1
- Genomic Coordinates
-
GRCh37/hg19: chr10:52750648-54058110 NCBI Ensembl UCSC GRCh38/hg38: chr10:50990888-52298350 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006258.4 ENST00000373980.11 (Read more about MANE Select)
- Function
- Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contrac... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28397
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)