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Aliases for PRKG1 Gene

Aliases for PRKG1 Gene

  • Protein Kinase CGMP-Dependent 1 2 3
  • Protein Kinase, CGMP-Dependent, Type I 2 3 5
  • PRKGR1B 3 4
  • PRKG1B 3 4
  • CGK 1 3 4
  • CGK1 3 4
  • CGKI 3 4
  • Protein Kinase, CGMP-Dependent, Regulatory, Type I, Beta 3
  • CGMP-Dependent Protein Kinase 1 3
  • CGMP-Dependent Protein Kinase I 4
  • EC 2.7.11.12 4
  • CGKI-Alpha 3
  • CGKI-BETA 3
  • PRKGR1A 4
  • AAT8 3
  • PKG1 3
  • PKG 3
  • CGK 3

External Ids for PRKG1 Gene

Previous HGNC Symbols for PRKG1 Gene

  • PRKGR1B
  • PRKG1B

Previous GeneCards Identifiers for PRKG1 Gene

  • GC10P051594
  • GC10P051702
  • GC10P052643
  • GC10P052095
  • GC10P052421
  • GC10P052751
  • GC10P046729

Summaries for PRKG1 Gene

Entrez Gene Summary for PRKG1 Gene

  • Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]

GeneCards Summary for PRKG1 Gene

PRKG1 (Protein Kinase CGMP-Dependent 1) is a Protein Coding gene. Diseases associated with PRKG1 include Aortic Aneurysm, Familial Thoracic 8 and Phosphoglycerate Kinase Deficiency. Among its related pathways are Cytoskeletal Signaling and Gap junction. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PRKG2.

UniProtKB/Swiss-Prot for PRKG1 Gene

  • Serine/threonine protein kinase that acts as 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 contraction, cardiac function, gene expression, feedback of the NO-signaling pathway, and other processes involved in several aspects of the CNS like axon guidance, hippocampal and cerebellar learning, circadian rhythm and nociception. Smooth muscle relaxation is mediated through lowering of intracellular free calcium, by desensitization of contractile proteins to calcium, and by decrease in the contractile state of smooth muscle or in platelet activation. Regulates intracellular calcium levels via several pathways: phosphorylates MRVI1/IRAG and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylation of KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels, which leads to increased opening of this channel. PRKG1 phosphorylates the canonical transient receptor potential channel (TRPC) family which inactivates the associated inward calcium current. Another mode of action of NO/cGMP/PKGI signaling involves PKGI-mediated inactivation of the Ras homolog gene family member A (RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of this protein in myriad processes: regulation of RHOA translocation; decreasing contraction; controlling vesicle trafficking, reduction of myosin light chain phosphorylation resulting in vasorelaxation. Activation of PRKG1 by NO signaling alters also gene expression in a number of tissues. In smooth muscle cells, increased cGMP and PRKG1 activity influence expression of smooth muscle-specific contractile proteins, levels of proteins in the NO/cGMP signaling pathway, down-regulation of the matrix proteins osteopontin and thrombospondin-1 to limit smooth muscle cell migration and phenotype. Regulates vasodilator-stimulated phosphoprotein (VASP) functions in platelets and smooth muscle.

Gene Wiki entry for PRKG1 Gene

Additional gene information for PRKG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKG1 Gene

Genomics for PRKG1 Gene

GeneHancer (GH) Regulatory Elements for PRKG1 Gene

Promoters and enhancers for PRKG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J050990 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.9 +1.6 1596 4.6 PKNOX1 FEZF1 ZNF2 GLIS2 ZFP91 FOS SP3 ZNF585B GLIS1 PRDM4 PRKG1 BEND3P1 LOC102724719
GH10J050739 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.1 -250.8 -250821 1.7 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B ASAH2B GC10M050738 PRKG1 ASAH2 ENSG00000229711
GH10J051073 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.2 +83.6 83585 2.9 MZF1 SIN3A ZNF2 ZNF335 GLIS2 SCRT2 EGR2 SP3 ZBTB11 USF2 PRKG1 LOC102724719 GC10P051149
GH10J051116 Enhancer 0.4 ENCODE 5 +127.2 127230 2.8 PKNOX1 NR2F2 EGR2 LOC102724719 ASAH2B PRKG1 GC10P051149
GH10J050999 Enhancer 0.6 ENCODE dbSUPER 0.4 +9.8 9822 1.5 CTCF FOS PRKG1 LOC102724719
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRKG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRKG1 gene promoter:
  • TBP
  • TFIID
  • E2F-3a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4

Genomic Locations for PRKG1 Gene

Genomic Locations for PRKG1 Gene
chr10:50,990,891-52,298,350
(GRCh38/hg38)
Size:
1,307,460 bases
Orientation:
Plus strand
chr10:52,750,945-54,058,110
(GRCh37/hg19)
Size:
1,307,166 bases
Orientation:
Plus strand

Genomic View for PRKG1 Gene

Genes around PRKG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKG1 Gene

Proteins for PRKG1 Gene

  • Protein details for PRKG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13976-KGP1_HUMAN
    Recommended name:
    cGMP-dependent protein kinase 1
    Protein Accession:
    Q13976
    Secondary Accessions:
    • A5YM56
    • B3KSF3
    • E2PU10
    • P14619
    • Q5JP05
    • Q5JSJ6
    • Q6P5T7

    Protein attributes for PRKG1 Gene

    Size:
    671 amino acids
    Molecular mass:
    76364 Da
    Quaternary structure:
    • Isoform alpha: parallel homodimer or heterodimer and also heterotetramer. Interacts directly with PPP1R12A. Non-covalent dimer of dimer of PRKG1-PRKG1 and PPP1R12A-PPP1R12A. This interaction targets PRKG1 to stress fibers to mediate smooth muscle cell relaxation and vasodilation in responses to rises in cGMP. Isoform beta: antiparallel homodimer. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1 (By similarity). Interacts with MRVI1. Forms a stable complex with ITPR1, MRVI1, and isoform beta of PRKG1. Interacts with TRPC7 (via ankyrin repeat domain). Isoform alpha interacts with RGS2. Interacts with GTF2I.

    Three dimensional structures from OCA and Proteopedia for PRKG1 Gene

    Alternative splice isoforms for PRKG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKG1 Gene

Post-translational modifications for PRKG1 Gene

No data available for DME Specific Peptides for PRKG1 Gene

Domains & Families for PRKG1 Gene

Gene Families for PRKG1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q13976

UniProtKB/Swiss-Prot:

KGP1_HUMAN :
  • Composed of an N-terminal leucine-zipper domain followed by an autoinhibitory domain, which mediate homodimer formation and inhibit kinase activity, respectively. Next, two cGMP-binding domains are followed by the catalytic domain at the C-terminus. Binding of cGMP to cGMP-binding domains results in a conformational change that activates kinase activity by removing the autoinhibitory domain from the catalytic cleft leaving the catalytic domain free to phosphorylate downstream substrates. Isoforms alpha and beta have identical cGMP-binding and catalytic domains but differ in their leucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cGMP subfamily.
Domain:
  • Composed of an N-terminal leucine-zipper domain followed by an autoinhibitory domain, which mediate homodimer formation and inhibit kinase activity, respectively. Next, two cGMP-binding domains are followed by the catalytic domain at the C-terminus. Binding of cGMP to cGMP-binding domains results in a conformational change that activates kinase activity by removing the autoinhibitory domain from the catalytic cleft leaving the catalytic domain free to phosphorylate downstream substrates. Isoforms alpha and beta have identical cGMP-binding and catalytic domains but differ in their leucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity.
  • Heterotetramerization is mediated by the interaction between a coiled-coil of PRKG1 and the leucine/isoleucine zipper of PPP1R12A/MBS, the myosin-binding subunit of the myosin phosphatase.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cGMP subfamily.
genes like me logo Genes that share domains with PRKG1: view

Function for PRKG1 Gene

Molecular function for PRKG1 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine protein kinase that acts as 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 contraction, cardiac function, gene expression, feedback of the NO-signaling pathway, and other processes involved in several aspects of the CNS like axon guidance, hippocampal and cerebellar learning, circadian rhythm and nociception. Smooth muscle relaxation is mediated through lowering of intracellular free calcium, by desensitization of contractile proteins to calcium, and by decrease in the contractile state of smooth muscle or in platelet activation. Regulates intracellular calcium levels via several pathways: phosphorylates MRVI1/IRAG and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylation of KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels, which leads to increased opening of this channel. PRKG1 phosphorylates the canonical transient receptor potential channel (TRPC) family which inactivates the associated inward calcium current. Another mode of action of NO/cGMP/PKGI signaling involves PKGI-mediated inactivation of the Ras homolog gene family member A (RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of this protein in myriad processes: regulation of RHOA translocation; decreasing contraction; controlling vesicle trafficking, reduction of myosin light chain phosphorylation resulting in vasorelaxation. Activation of PRKG1 by NO signaling alters also gene expression in a number of tissues. In smooth muscle cells, increased cGMP and PRKG1 activity influence expression of smooth muscle-specific contractile proteins, levels of proteins in the NO/cGMP signaling pathway, down-regulation of the matrix proteins osteopontin and thrombospondin-1 to limit smooth muscle cell migration and phenotype. Regulates vasodilator-stimulated phosphoprotein (VASP) functions in platelets and smooth muscle.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
In the absence of cGMP, PRKG1 activity is suppressed by autoinhibitory contacts.
GENATLAS Biochemistry:
protein kinase,cGMP-dependent,regulatory,type I,with two alternatively spliced isoforms,1 alpha predominantly expressed in lung,placenta,1 beta in bladder,uterus,adrenals,fallopian tube

Enzyme Numbers (IUBMB) for PRKG1 Gene

Phenotypes From GWAS Catalog for PRKG1 Gene

Gene Ontology (GO) - Molecular Function for PRKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004672 protein kinase activity IMP 25447536
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004692 cGMP-dependent protein kinase activity IEA,TAS --
GO:0005246 calcium channel regulator activity IDA 21402151
genes like me logo Genes that share ontologies with PRKG1: view
genes like me logo Genes that share phenotypes with PRKG1: view

Human Phenotype Ontology for PRKG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKG1 Gene

MGI Knock Outs for PRKG1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKG1

No data available for Transcription Factor Targets and HOMER Transcription for PRKG1 Gene

Localization for PRKG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKG1 Gene

Cytoplasm. Note=Colocalized with TRPC7 in the plasma membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKG1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 2
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 21402151
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 21402151
genes like me logo Genes that share ontologies with PRKG1: view

Pathways & Interactions for PRKG1 Gene

genes like me logo Genes that share pathways with PRKG1: view

SIGNOR curated interactions for PRKG1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for PRKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006468 NOT protein phosphorylation IDA,IEA 15905169
GO:0007165 signal transduction IEA,TAS 2792381
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PRKG1: view

Drugs & Compounds for PRKG1 Gene

(29) Drugs for PRKG1 Gene - From: DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
KT 5823 Pharma Positive, Allosteric regulator Selective protein kinase G inhibitor 0
Rp-8-Br-PET-cGMPS Pharma Protein kinase G inhibitor 0
Rp-8-CPT-cGMPS Pharma Inhibition, Inhibitor 0
cGMP Dependent Kinase Inhibitor Peptide Pharma Inhibitor of protein kinases G and A 0

(25) Additional Compounds for PRKG1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Rp-8-pCPT-cGMPS sodium
208445-07-2

(3) Tocris Compounds for PRKG1 Gene

Compound Action Cas Number
KT 5823 Selective protein kinase G inhibitor 126643-37-6
Rp-8-Br-PET-cGMPS Protein kinase G inhibitor 185246-32-6
Rp-8-pCPT-cGMPS sodium PKG inhibitor 208445-07-2
genes like me logo Genes that share compounds with PRKG1: view

Transcripts for PRKG1 Gene

mRNA/cDNA for PRKG1 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRKG1 Gene

Protein kinase, cGMP-dependent, type I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRKG1

Alternative Splicing Database (ASD) splice patterns (SP) for PRKG1 Gene

No ASD Table

Relevant External Links for PRKG1 Gene

GeneLoc Exon Structure for
PRKG1
ECgene alternative splicing isoforms for
PRKG1

Expression for PRKG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRKG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRKG1 Gene

This gene is overexpressed in Artery - Aorta (x6.8), Artery - Tibial (x6.2), and Artery - Coronary (x4.7).

Protein differential expression in normal tissues from HIPED for PRKG1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.2) and Prostate (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRKG1 Gene



Protein tissue co-expression partners for PRKG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRKG1 Gene:

PRKG1

SOURCE GeneReport for Unigene cluster for PRKG1 Gene:

Hs.407535

mRNA Expression by UniProt/SwissProt for PRKG1 Gene:

Q13976-KGP1_HUMAN
Tissue specificity: Primarily expressed in lung and placenta.

Evidence on tissue expression from TISSUES for PRKG1 Gene

  • Lung(4.4)
  • Muscle(3)
  • Heart(2.8)
  • Nervous system(2.8)
  • Blood(2.3)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • pharynx
  • skull
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PRKG1: view

Orthologs for PRKG1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRKG1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PRKG1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRKG1 34 33
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRKG1 34 33
  • 91.17 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKG1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKG1 34 33
  • 89.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prkg1 16 34 33
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Prkg1 33
  • 88.79 (n)
chicken
(Gallus gallus)
Aves PRKG1 34 33
  • 86.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKG1 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494278 33
  • 84.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4902 33
zebrafish
(Danio rerio)
Actinopterygii prkg1b 34
  • 94 (a)
OneToMany
prkg1a 34 33
  • 75.37 (n)
OneToMany
zgc63955 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008863 33
  • 60.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta for 34 35 33
  • 60.27 (n)
OneToOne
Pkg21D 35
  • 55 (a)
CG4839 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-4 34 35
  • 45 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPK2 34
  • 36 (a)
ManyToMany
TPK1 34
  • 36 (a)
ManyToMany
TPK3 34
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
Species where no ortholog for PRKG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRKG1 Gene

ENSEMBL:
Gene Tree for PRKG1 (if available)
TreeFam:
Gene Tree for PRKG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRKG1: view image

Paralogs for PRKG1 Gene

Paralogs for PRKG1 Gene

genes like me logo Genes that share paralogs with PRKG1: view

Variants for PRKG1 Gene

Sequence variations from dbSNP and Humsavar for PRKG1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1060501403 uncertain-significance, Aortic aneurysm, familial thoracic 8 52,282,205(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs113994747 benign, Thoracic aortic aneurysm and aortic dissection, not specified, Aortic aneurysm, familial thoracic 8 52,062,584(+) T/C coding_sequence_variant, synonymous_variant
rs139104275 likely-benign, Aortic aneurysm, familial thoracic 8 51,467,829(+) C/G/T coding_sequence_variant, synonymous_variant
rs139646798 benign, Aortic aneurysm, familial thoracic 8 52,280,910(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs140630065 uncertain-significance, Thoracic aortic aneurysm and aortic dissection 52,280,808(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PRKG1 Gene

Variant ID Type Subtype PubMed ID
dgv1130n54 CNV loss 21841781
dgv1131n54 CNV loss 21841781
dgv1132n54 CNV loss 21841781
dgv1133n54 CNV loss 21841781
dgv1134n54 CNV loss 21841781
dgv1135n54 CNV loss 21841781
dgv1136n54 CNV loss 21841781
dgv1137n54 CNV loss 21841781
dgv1138n54 CNV loss 21841781
dgv1139n54 CNV loss 21841781
dgv129e214 CNV loss 21293372
dgv140e199 CNV deletion 23128226
dgv150n67 CNV loss 20364138
dgv235e212 CNV loss 25503493
dgv236e212 CNV loss 25503493
dgv237e212 CNV loss 25503493
dgv238e212 CNV loss 25503493
dgv35e215 CNV deletion 23714750
dgv41n21 CNV loss 19592680
dgv455n106 CNV deletion 24896259
esv1001281 CNV deletion 20482838
esv1001921 CNV deletion 20482838
esv1009864 CNV deletion 20482838
esv1311797 CNV insertion 17803354
esv1485951 CNV deletion 17803354
esv22108 CNV loss 19812545
esv22774 CNV loss 19812545
esv2331299 CNV deletion 18987734
esv2587039 CNV deletion 19546169
esv2592510 CNV insertion 19546169
esv2603311 CNV insertion 19546169
esv2621844 CNV deletion 19546169
esv2660369 CNV deletion 23128226
esv2660828 CNV deletion 23128226
esv2665031 CNV deletion 23128226
esv2668699 CNV deletion 23128226
esv2669732 CNV deletion 23128226
esv2669955 CNV deletion 23128226
esv2672425 CNV deletion 23128226
esv2676165 CNV deletion 23128226
esv2736684 CNV deletion 23290073
esv2736696 CNV deletion 23290073
esv2736707 CNV deletion 23290073
esv2736718 CNV deletion 23290073
esv2736729 CNV deletion 23290073
esv2736740 CNV deletion 23290073
esv2736751 CNV deletion 23290073
esv2736762 CNV deletion 23290073
esv2736773 CNV deletion 23290073
esv2736784 CNV deletion 23290073
esv2736795 CNV deletion 23290073
esv2736807 CNV deletion 23290073
esv2736818 CNV deletion 23290073
esv2750961 CNV gain 17911159
esv2759750 CNV loss 17122850
esv2759751 CNV loss 17122850
esv2760114 CNV loss 21179565
esv2761594 CNV loss 21179565
esv2762865 CNV loss 21179565
esv2763958 CNV loss 21179565
esv27800 CNV loss 19812545
esv3072 CNV loss 18987735
esv3136773 CNV deletion 24192839
esv32970 CNV gain 17666407
esv3304879 CNV mobile element insertion 20981092
esv3306135 CNV mobile element insertion 20981092
esv3310033 CNV mobile element insertion 20981092
esv3323795 CNV insertion 20981092
esv3334883 CNV insertion 20981092
esv33593 CNV loss 17666407
esv3370541 CNV insertion 20981092
esv3439195 CNV insertion 20981092
esv3441130 CNV insertion 20981092
esv3546286 CNV deletion 23714750
esv3546287 CNV deletion 23714750
esv3546289 CNV deletion 23714750
esv3546292 CNV deletion 23714750
esv3546293 CNV deletion 23714750
esv3578885 CNV loss 25503493
esv3578886 CNV loss 25503493
esv3578887 CNV loss 25503493
esv3578896 CNV loss 25503493
esv3623224 CNV gain 21293372
esv3623226 CNV loss 21293372
esv3623229 CNV gain 21293372
esv3623233 CNV loss 21293372
esv3623236 CNV loss 21293372
esv3623237 CNV loss 21293372
esv3623242 CNV loss 21293372
esv3623243 CNV loss 21293372
esv3623244 CNV loss 21293372
esv4200 CNV loss 18987735
esv5974 CNV loss 19470904
esv6776 CNV loss 19470904
esv9317 CNV loss 19470904
nsv1036645 CNV gain 25217958
nsv1040754 CNV loss 25217958
nsv1041537 CNV loss 25217958
nsv1045692 CNV gain 25217958
nsv1050106 CNV loss 25217958
nsv1068699 CNV deletion 25765185
nsv1069485 CNV deletion 25765185
nsv1112235 CNV deletion 24896259
nsv1113297 CNV deletion 24896259
nsv1119809 CNV deletion 24896259
nsv1120221 CNV tandem duplication 24896259
nsv1121459 CNV deletion 24896259
nsv1127110 CNV deletion 24896259
nsv1130647 CNV deletion 24896259
nsv1137921 CNV deletion 24896259
nsv1144486 CNV deletion 24896259
nsv1144488 CNV deletion 24896259
nsv1149455 CNV deletion 26484159
nsv1161952 CNV duplication 26073780
nsv467195 CNV loss 19166990
nsv467196 CNV loss 19166990
nsv467197 CNV loss 19166990
nsv478784 CNV novel sequence insertion 20440878
nsv507552 OTHER sequence alteration 20534489
nsv507553 OTHER sequence alteration 20534489
nsv507554 OTHER sequence alteration 20534489
nsv510218 OTHER sequence alteration 20534489
nsv511449 CNV loss 21212237
nsv512163 CNV loss 21212237
nsv519743 CNV loss 19592680
nsv523297 CNV loss 19592680
nsv524814 CNV loss 19592680
nsv526624 CNV loss 19592680
nsv527322 CNV loss 19592680
nsv527904 CNV loss 19592680
nsv550858 CNV loss 21841781
nsv550867 CNV loss 21841781
nsv550868 CNV loss 21841781
nsv550869 CNV loss 21841781
nsv550872 CNV loss 21841781
nsv550875 CNV loss 21841781
nsv550876 CNV loss 21841781
nsv550879 CNV loss 21841781
nsv550880 CNV loss 21841781
nsv550889 CNV loss 21841781
nsv550897 CNV loss 21841781
nsv550900 CNV loss 21841781
nsv6665 CNV deletion 18451855
nsv819404 CNV loss 19587683
nsv825378 CNV loss 20364138
nsv825379 CNV loss 20364138
nsv825383 CNV loss 20364138
nsv831872 CNV gain 17160897
nsv831873 CNV gain 17160897
nsv831874 CNV gain 17160897
nsv831875 CNV gain 17160897
nsv948009 CNV duplication 23825009
nsv956124 CNV deletion 24416366
nsv958281 CNV deletion 24416366

Variation tolerance for PRKG1 Gene

Residual Variation Intolerance Score: 8.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRKG1 Gene

Human Gene Mutation Database (HGMD)
PRKG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKG1 Gene

Disorders for PRKG1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PRKG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aortic aneurysm, familial thoracic 8
  • aat8
phosphoglycerate kinase deficiency
  • phosphoglycerate kinase 1 deficiency
myoglobinuria, recurrent
  • myoglobinuria recurrent
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
cowchock syndrome
  • cowck
- elite association - COSMIC cancer census association via MalaCards
Search PRKG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KGP1_HUMAN
  • Aortic aneurysm, familial thoracic 8 (AAT8) [MIM:615436]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:23910461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PRKG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRKG1: view

No data available for Genatlas for PRKG1 Gene

Publications for PRKG1 Gene

  1. Probing the interaction between the coiled coil leucine zipper of cGMP-dependent protein kinase Ialpha and the C terminus of the myosin binding subunit of the myosin light chain phosphatase. (PMID: 18782776) Sharma AK … Rigby AC (The Journal of biological chemistry 2008) 3 4 22 58
  2. Characterization of the human gene encoding the type I alpha and type I beta cGMP-dependent protein kinase (PRKG1). (PMID: 9192852) Orstavik S … Sandberg M (Genomics 1997) 3 4 22 58
  3. cDNA cloning and gene expression of human type Ialpha cGMP-dependent protein kinase. (PMID: 8613202) Tamura N … Nakao K (Hypertension (Dallas, Tex. : 1979) 1996) 3 4 22 58
  4. Molecular cloning and predicted full-length amino acid sequence of the type I beta isozyme of cGMP-dependent protein kinase from human placenta. Tissue distribution and developmental changes in rat. (PMID: 2792381) Sandberg M … Jahnsen T (FEBS letters 1989) 2 3 4 58
  5. Neutron diffraction reveals hydrogen bonds critical for cGMP-selective activation: insights for cGMP-dependent protein kinase agonist design. (PMID: 25271401) Huang GY … Kim C (Biochemistry 2014) 3 4 58

Products for PRKG1 Gene

Sources for PRKG1 Gene

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