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Aliases for PRKG1 Gene

Aliases for PRKG1 Gene

  • Protein Kinase, CGMP-Dependent, Type I 2 3
  • PRKGR1B 3 4 6
  • PRKG1B 3 4 6
  • EC 2.7.11.12 4 63
  • CGK 1 3 4
  • AAT8 3 6
  • 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
  • CGKI-Alpha 3
  • CGKI-BETA 3
  • EC 2.7.11 63
  • PRKGR1A 4
  • PKG 3
  • CGK 3
  • 1 3

External Ids for PRKG1 Gene

Previous Symbols for PRKG1 Gene

  • PRKGR1B
  • PRKG1B

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, Type I) is a Protein Coding gene. Diseases associated with PRKG1 include aortic aneurysm, familial thoracic 8 and phosphoglycerate kinase deficiency. Among its related pathways are Signaling by GPCR and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include calcium channel regulator activity and cGMP-dependent protein kinase activity. An important paralog of this gene is PRKACA.

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

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

Genomics for PRKG1 Gene

Genomic Location for PRKG1 Gene

Start:
50,991,151 bp from pter
End:
52,298,350 bp from pter
Size:
1,307,200 bases
Orientation:
Plus strand

Genomic View for PRKG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRKG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKG1 Gene

Regulatory Elements 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

Proteomics data for PRKG1 Gene at MOPED

Post-translational modifications for PRKG1 Gene

Other Protein References for PRKG1 Gene

Domains for PRKG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13976

UniProtKB/Swiss-Prot:

KGP1_HUMAN
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:
    • Q13976
  • 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:
    • Q13976
  • Contains 1 AGC-kinase C-terminal domain.:
    • Q13976
  • Contains 2 cyclic nucleotide-binding domains.:
    • Q13976
  • Contains 1 protein kinase domain.:
    • Q13976
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cGMP subfamily.:
    • Q13976
genes like me logo Genes that share domains with PRKG1: view

Function for PRKG1 Gene

Molecular function for PRKG1 Gene

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
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
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.

Enzyme Numbers (IUBMB) for PRKG1 Gene

Gene Ontology (GO) - Molecular Function for PRKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity --
GO:0004692 cGMP-dependent protein kinase activity IDA 21402151
GO:0004713 protein tyrosine kinase activity --
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

Animal Models for PRKG1 Gene

MGI Knock Outs for PRKG1:

No data available for miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PRKG1 Gene COMPARTMENTS Subcellular localization image for PRKG1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
golgi apparatus 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for PRKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 21402151
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 16990611
genes like me logo Genes that share ontologies with PRKG1: view

Pathways for PRKG1 Gene

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

Gene Ontology (GO) - Biological Process for PRKG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction TAS 2792381
GO:0007596 blood coagulation TAS --
GO:0016358 dendrite development IEA --
genes like me logo Genes that share ontologies with PRKG1: view

Compounds for PRKG1 Gene

(2) HMDB Compounds for PRKG1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) IUPHAR Ligand for PRKG1 Gene

Ligand Type Action Affinity Pubmed IDs
Rp-8-CPT-cGMPS Inhibitor Inhibition

(50) Novoseek inferred chemical compound relationships for PRKG1 Gene

Compound -log(P) Hits PubMed IDs
3-phosphoglycerate 86.6 24
hpaii 74 4
cgmp 71.9 74
1,3-bisphosphoglycerate 68.4 3
kt 5823 60.1 4
genes like me logo Genes that share compounds with PRKG1: view

Transcripts for PRKG1 Gene

mRNA/cDNA for PRKG1 Gene

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

Unigene Clusters for PRKG1 Gene

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

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 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 (6.8), Artery - Tibial (6.2), and Artery - Coronary (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRKG1 Gene

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.
genes like me logo Genes that share expressions 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
chimpanzee
(Pan troglodytes)
Mammalia PRKG1 35
  • 99.71 (n)
  • 100 (a)
PRKG1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRKG1 35
  • 91.17 (n)
  • 93.15 (a)
PRKG1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKG1 35
  • 89.97 (n)
  • 92.86 (a)
PRKG1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkg1 35
  • 89.09 (n)
  • 93 (a)
Prkg1 16
Prkg1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRKG1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKG1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkg1 35
  • 88.79 (n)
  • 93 (a)
chicken
(Gallus gallus)
Aves PRKG1 35
  • 86.38 (n)
  • 93.09 (a)
PRKG1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKG1 36
  • 99 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4902 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494278 35
  • 84.77 (n)
  • 95.77 (a)
zebrafish
(Danio rerio)
Actinopterygii prkg1a 35
  • 75.37 (n)
  • 85.19 (a)
prkg1a 36
  • 85 (a)
OneToMany
prkg1b 36
  • 94 (a)
OneToMany
zgc63955 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008863 35
  • 60.69 (n)
  • 68.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta for 35
  • 60.27 (n)
  • 62.82 (a)
for 36
  • 39 (a)
OneToOne
Pkg21D 37
  • 55 (a)
for 37
  • 60 (a)
CG4839 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-4 36
  • 45 (a)
OneToOne
egl-4 37
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPK1 36
  • 36 (a)
ManyToMany
TPK2 36
  • 36 (a)
ManyToMany
TPK3 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
Species with no ortholog for PRKG1:
  • 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)

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 Sequence Context AA Info Type MAF
rs167136 -- 51,393,023(-) caccc(C/G)gtctg intron-variant
rs172400 -- 51,447,175(+) aaagg(C/T)cataa intron-variant
rs211067 -- 51,333,366(-) CTACT(A/G)AGTTA intron-variant
rs211068 -- 51,332,542(-) TAACC(A/C)AACTG intron-variant
rs211069 -- 51,332,406(-) TTAGG(G/T)GGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831872 CNV Gain 17160897
nsv831873 CNV Gain 17160897
nsv895394 CNV Gain 21882294
nsv825378 CNV Loss 20364138
esv2587039 CNV Deletion 19546169
esv2603311 CNV Insertion 19546169
esv2736684 CNV Deletion 23290073
esv2669732 CNV Deletion 23128226
dgv276e1 CNV Complex 17122850
nsv831874 CNV Gain 17160897
esv274305 CNV Insertion 20981092
esv269157 CNV Insertion 20981092
dgv41n21 CNV Loss 19592680
nsv6665 CNV Loss 18451855
nsv511449 CNV Loss 21212237
nsv512163 CNV Loss 21212237
esv2660369 CNV Deletion 23128226
esv22108 CNV Loss 19812545
esv2592510 CNV Insertion 19546169
esv271690 CNV Insertion 20981092
nsv523297 CNV Loss 19592680
nsv467195 CNV Loss 19166990
nsv895395 CNV Loss 21882294
nsv526624 CNV Loss 19592680
nsv895396 CNV Loss 21882294
dgv277e1 CNV Complex 17122850
nsv825379 CNV Loss 20364138
esv2736696 CNV Deletion 23290073
esv2736707 CNV Deletion 23290073
esv2736718 CNV Deletion 23290073
esv2331299 CNV Deletion 18987734
nsv831875 CNV Gain 17160897
dgv704n71 CNV Loss 21882294
nsv527322 CNV Loss 19592680
nsv527904 CNV Loss 19592680
nsv467196 CNV Loss 19166990
nsv467197 CNV Loss 19166990
nsv510218 CNV Loss 20534489
nsv507552 CNV Insertion 20534489
esv4200 CNV Deletion 18987735
esv2736729 CNV Deletion 23290073
esv2676165 CNV Deletion 23128226
esv6776 CNV Loss 19470904
esv32970 CNV Gain 17666407
esv2668699 CNV Deletion 23128226
esv2736740 CNV Deletion 23290073
esv1311797 CNV Insertion 17803354
esv33593 CNV Loss 17666407
nsv507553 CNV Insertion 20534489
esv2665031 CNV Deletion 23128226
esv22774 CNV Loss 19812545
esv2660828 CNV Deletion 23128226
nsv519743 CNV Loss 19592680
esv2750961 CNV Gain 17911159
nsv524814 CNV Loss 19592680
esv9317 CNV Loss 19470904
esv2736751 CNV Deletion 23290073
esv1001921 CNV Deletion 20482838
esv2736762 CNV Deletion 23290073
esv1001281 CNV Deletion 20482838
esv2736773 CNV Deletion 23290073
esv270412 CNV Insertion 20981092
esv2669955 CNV Deletion 23128226
nsv895399 CNV Gain 21882294
esv2736784 CNV Deletion 23290073
esv2736795 CNV Deletion 23290073
esv1009864 CNV Deletion 20482838
esv1485951 CNV Deletion 17803354
esv2736807 CNV Deletion 23290073
esv2621844 CNV Deletion 19546169
esv3072 CNV Deletion 18987735
esv5974 CNV Loss 19470904
nsv507554 CNV Insertion 20534489
esv2672425 CNV Deletion 23128226
dgv140e199 CNV Deletion 23128226
esv27800 CNV Loss 19812545
esv2736818 CNV Deletion 23290073
dgv150n67 CNV Loss 20364138
nsv819404 CNV Loss 19587683
nsv825383 CNV Loss 20364138

Relevant External Links for PRKG1 Gene

HapMap Linkage Disequilibrium report
PRKG1
Human Gene Mutation Database (HGMD)
PRKG1

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

Disorders for PRKG1 Gene

(1) OMIM Diseases for PRKG1 Gene (176894)

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.

(44) Novoseek inferred disease relationships for PRKG1 Gene

Disease -log(P) Hits PubMed IDs
pgk deficiency 95.8 32
enzymopathy 63.9 2
anemia hemolytic 62.7 12
myoglobinuria, recurrent 60.7 2
enzyme deficiency 54.9 1

Relevant External Links for PRKG1

Genetic Association Database (GAD)
PRKG1
Human Genome Epidemiology (HuGE) Navigator
PRKG1
genes like me logo Genes that share disorders with PRKG1: view

Publications for PRKG1 Gene

  1. 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 23
  2. cDNA cloning and gene expression of human type Ialpha cGMP-dependent protein kinase. (PMID: 8613202) Tamura N. … Nakao K. (Hypertension 1996) 3 4 23
  3. Lack of association between polymorphism of the human cyclic GMP-dependent protein kinase gene and obesity. (PMID: 15917860) Zakharkin S.O. … Allison D.B. (Int J Obes (Lond) 2005) 3 23 48
  4. 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 A.K. … Rigby A.C. (J. Biol. Chem. 2008) 3 4 23
  5. 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 Lett. 1989) 2 3 4

Products for PRKG1 Gene

  • Addgene plasmids for PRKG1

Sources for PRKG1 Gene

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