U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 5592, updated on 10-Oct-2023

    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; AllianceGenome:HGNC:9414
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRKG1 in Genome Data Viewer
    Location:
    10q11.23-q21.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50990888..52298350)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (51839480..53144930)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (52750648..54058110)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak944 silencer Neighboring gene APOBEC1 complementation factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:52751723-52752223 Neighboring gene uncharacterized LOC102724719 Neighboring gene MIX23 pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:52842676-52843197 Neighboring gene NANOG hESC enhancer GRCh37_chr10:53066477-53066978 Neighboring gene microRNA 605 Neighboring gene Ras suppressor protein 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3374 Neighboring gene Sharpr-MPRA regulatory region 685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:53469036-53469536 Neighboring gene cleavage stimulation factor subunit 2 tau variant Neighboring gene NANOG hESC enhancer GRCh37_chr10:53607630-53608132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3376 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:53670167-53671089 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:53669244-53670166 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:53674681-53675592 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:53793022-53793717 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:53793718-53794412 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:53798813-53799426 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:53800040-53800652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:53823712-53824316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:53824317-53824921 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:53940739-53941239 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:53940238-53940738 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:53945399-53945604 Neighboring gene uncharacterized LOC124902425 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:53964675-53965189 Neighboring gene NANOG hESC enhancer GRCh37_chr10:53973100-53973601 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:53993330-53993927 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:54078024-54079223 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36117, MGC71944, DKFZp686K042

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cGMP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cGMP-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cGMP-dependent protein kinase activity TAS
    Traceable Author Statement
    more info
     
    enables calcium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitogen-activated protein kinase p38 binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell growth involved in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collateral sprouting IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of inositol phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of testosterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in relaxation of vascular associated smooth muscle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     

    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_001361710.1
    NP_001361711.1
    NP_006249.1
    XP_011538254.1
    XP_016871902.1
    XP_054222271.1
    XP_054222272.1
    XP_054222273.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

      Source sequence(s)
      AL599933, AL731537, BC127090, BQ445850, BX097700, BX117079, BX952280, CD723759, D45864, DA646702, DA915933, DB138350, DC381245
      Consensus CDS
      CCDS44399.1
      UniProtKB/Swiss-Prot
      A5YM56, B3KSF3, E2PU10, P14619, Q13976, Q5JP05, Q5JSJ6, Q6P5T7
      Related
      ENSP00000384200.4, ENST00000401604.8
      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_001374781.1NP_001361710.1  cGMP-dependent protein kinase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC009986, AC022025, AC027118, AL928686
      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)
    3. NM_001374782.1NP_001361711.1  cGMP-dependent protein kinase 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022025, AC022537, AC026228, AL157399, AL391378, AL731537
      Consensus CDS
      CCDS91244.1
      UniProtKB/TrEMBL
      A0A2R8Y507, A6NFM3, B1ALS0
      Related
      ENSP00000363087.4, ENST00000373976.9
      Conserved Domains (3) summary
      smart00100
      Location:237310
      cNMP; Cyclic nucleotide-monophosphate binding domain
      cd12086
      Location:455
      DD_cGKI-beta; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I beta
      cd00038
      Location:118227
      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 ...
    4. 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

      Source sequence(s)
      AL599933, BC127090, BQ445850, BX097700, BX952280, CD723759, DA150150, DA646702, DA915933, DB138350
      Consensus CDS
      CCDS7244.1
      UniProtKB/Swiss-Prot
      Q13976
      Related
      ENSP00000363092.5, ENST00000373980.11
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      50990888..52298350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016413.2XP_016871902.1  cGMP-dependent protein kinase 1 isoform X1

    2. XM_011539952.3XP_011538254.1  cGMP-dependent protein kinase 1 isoform X2

      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      51839480..53144930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366297.1XP_054222272.1  cGMP-dependent protein kinase 1 isoform X1

    2. XM_054366298.1XP_054222273.1  cGMP-dependent protein kinase 1 isoform X2

    3. XM_054366296.1XP_054222271.1  cGMP-dependent protein kinase 1 isoform X3