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PRKG1 protein kinase cGMP-dependent 1 [ Homo sapiens (human) ]

Gene ID: 5592, updated on 12-Aug-2018

Summary

Official Symbol
PRKG1provided by HGNC
Official Full Name
protein kinase cGMP-dependent 1provided by HGNC
Primary source
HGNC:HGNC:9414
See related
Ensembl:ENSG00000185532 MIM:176894; Vega:OTTHUMG00000018248
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PKG; cGK; AAT8; PKG1; cGK1; cGKI; cGK 1; PRKG1B; PRKGR1B; cGKI-BETA; cGKI-alpha
Summary
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]
Expression
Ubiquitous expression in endometrium (RPKM 4.7), lung (RPKM 4.4) and 22 other tissues See more
Orthologs

Genomic context

See PRKG1 in Genome Data Viewer
Location:
10q11.23-q21.1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (50991151..52298350)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (52750911..54058110)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene APOBEC1 complementation factor Neighboring gene coiled-coil domain containing 58 pseudogene 2 Neighboring gene uncharacterized LOC102724719 Neighboring gene microRNA 605 Neighboring gene Ras suppressor protein 1 pseudogene 3 Neighboring gene cleavage stimulation factor subunit 2 tau variant Neighboring gene PRKG1 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 44 Neighboring gene dickkopf WNT signaling pathway inhibitor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aortic aneurysm, familial thoracic 8
MedGen: C3809513 OMIM: 615436 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat potentiates NMDA-evoked (Ca2+)I responses involve LRP and a Src family kinase via the NOS/sGC/PKG pathway PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • Ca2+ pathway, organism-specific biosystem (from REACTOME)
    Ca2+ pathway, organism-specific biosystemA number of so called non-canonical WNT ligands have been shown to promote intracellular calcium release upon FZD binding. This beta-catenin-independent WNT pathway acts through heterotrimeric G pro...
  • Cardiac Hypertrophic Response, organism-specific biosystem (from WikiPathways)
    Cardiac Hypertrophic Response, organism-specific biosystemIntegrated schematic of the more extensively characterized intracellular signal-transduction pathways that coordinate the cardiac hypertrophic response. During development and in response to physiolo...
  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Gap junction, organism-specific biosystem (from KEGG)
    Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
  • Gap junction, conserved biosystem (from KEGG)
    Gap junction, conserved biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Long-term depression, organism-specific biosystem (from KEGG)
    Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • Long-term depression, conserved biosystem (from KEGG)
    Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
  • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
    MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
  • Nitric oxide stimulates guanylate cyclase, organism-specific biosystem (from REACTOME)
    Nitric oxide stimulates guanylate cyclase, organism-specific biosystemNitric Oxide (NO) inhibits smooth muscle cell proliferation and migration, oxidation of low-density lipoproteins, and platelet aggregation and adhesion. It can stimulate vasodilatation of the endothe...
  • Olfactory transduction, organism-specific biosystem (from KEGG)
    Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
  • Olfactory transduction, conserved biosystem (from KEGG)
    Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
  • Rap1 signalling, organism-specific biosystem (from REACTOME)
    Rap1 signalling, organism-specific biosystemRap1 (Ras-proximate-1) is a small G protein in the Ras superfamily. Like all G proteins, Rap1 is activated when bound GDP is exchanged for GTP. Rap1 is targeted to lipid membranes by the covalent att...
  • Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
    Regulation of lipolysis in adipocytes, organism-specific biosystemLipolysis in adipocytes, the hydrolysis of triacylglycerol (TAG) to release fatty acids (FAs) and glycerol for use by other organs as energy substrates, is a unique function of white adipose tissue. ...
  • Salivary secretion, organism-specific biosystem (from KEGG)
    Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
  • Salivary secretion, conserved biosystem (from KEGG)
    Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • cGMP effects, organism-specific biosystem (from REACTOME)
    cGMP effects, organism-specific biosystemCyclic guanosine monophosphate (cGMP) is an important secondary messenger synthesized by guanylate cyclases. cGMP has effects on phosphodiesterases (PDE), ion-gated channels, and the cGMP-dependent p...
  • cGMP signaling, organism-specific biosystem (from KEGG)
    cGMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • cGMP signaling, conserved biosystem (from KEGG)
    cGMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36117, MGC71944, DKFZp686K042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cGMP binding IEA
Inferred from Electronic Annotation
more info
 
cGMP-dependent protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cGMP-dependent protein kinase activity TAS
Traceable Author Statement
more info
 
calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
dendrite development IEA
Inferred from Electronic Annotation
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of vascular associated smooth muscle cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of vascular smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
NOT protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
relaxation of vascular smooth muscle IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cGMP-dependent protein kinase 1
Names
protein kinase, cGMP-dependent, regulatory, type I, beta
protein kinase, cGMP-dependent, type I
NP_001091982.1
NP_006249.1
XP_011538254.1
XP_016871901.1
XP_016871902.1
XP_024303846.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029982.1 RefSeqGene

    Range
    4738..1312200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1135

mRNA and Protein(s)

  1. NM_001098512.3NP_001091982.1  cGMP-dependent protein kinase 1 isoform 1

    See identical proteins and their annotated locations for NP_001091982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (1; also known as alpha or 1alpha).
    Source sequence(s)
    AL599933, AL731537, BC127090, BQ445850, BX097700, BX117079, BX952280, CD723759, D45864, DA646702, DA915933, DB138350, DC381245
    Consensus CDS
    CCDS44399.1
    UniProtKB/Swiss-Prot
    Q13976
    Related
    ENSP00000363097.2, OTTHUMP00000019618, ENST00000373985.6
    Conserved Domains (4) summary
    cd12085
    Location:249
    DD_cGKI-alpha; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I alpha
    smart00133
    Location:621664
    S_TK_X; Extension to Ser/Thr-type protein kinases
    cd00038
    Location:222326
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd05572
    Location:366626
    STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
  2. NM_006258.4NP_006249.1  cGMP-dependent protein kinase 1 isoform 2

    See identical proteins and their annotated locations for NP_006249.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate exon at its 5' end which result in the use of a distinct translation initiation site, compared to variant 1. This difference results in an isoform (2; also known as beta or 1beta) with a longer and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL599933, BC127090, BQ445850, BX097700, BX952280, CD723759, DA150150, DA646702, DA915933, DB138350
    Consensus CDS
    CCDS7244.1
    UniProtKB/Swiss-Prot
    Q13976
    Related
    ENSP00000363092.4, OTTHUMP00000019619, ENST00000373980.9
    Conserved Domains (4) summary
    cd12086
    Location:455
    DD_cGKI-beta; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I beta
    smart00133
    Location:636679
    S_TK_X; Extension to Ser/Thr-type protein kinases
    cd00038
    Location:237341
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd05572
    Location:381641
    STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    50991151..52298350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539952.2XP_011538254.1  cGMP-dependent protein kinase 1 isoform X3

    Conserved Domains (3) summary
    cd12086
    Location:455
    DD_cGKI-beta; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I beta
    COG0664
    Location:116218
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:237341
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
  2. XM_017016413.1XP_016871902.1  cGMP-dependent protein kinase 1 isoform X2

  3. XM_017016412.1XP_016871901.1  cGMP-dependent protein kinase 1 isoform X1

  4. XM_024448078.1XP_024303846.1  cGMP-dependent protein kinase 1 isoform X4

    Conserved Domains (2) summary
    smart00133
    Location:233276
    S_TK_X; Extension to Ser/Thr-type protein kinases
    cd05572
    Location:1238
    STKc_cGK; Catalytic domain of the Serine/Threonine Kinase, cGMP-dependent protein kinase (cGK or PKG)
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