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    PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha [ Homo sapiens (human) ]

    Gene ID: 5573, updated on 9-Dec-2024

    Summary

    Official Symbol
    PRKAR1Aprovided by HGNC
    Official Full Name
    protein kinase cAMP-dependent type I regulatory subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:9388
    See related
    Ensembl:ENSG00000108946 MIM:188830; AllianceGenome:HGNC:9388
    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
    CAR; CNC; CNC1; PKR1; TSE1; ADOHR; PPNAD1; PRKAR1; ACRDYS1; Prkar1alpha
    Summary
    cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in heart (RPKM 107.2), thyroid (RPKM 76.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRKAR1A in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (68413623..68551316)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (69290146..69428169)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66409764..66547457)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66287460-66287634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12644 Neighboring gene solute carrier family 16 member 6 Neighboring gene arylsulfatase G Neighboring gene Sharpr-MPRA regulatory region 10227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66340482-66340982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66340983-66341483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12647 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66374359-66374878 Neighboring gene MPRA-validated peak2959 silencer Neighboring gene tRNA-undetermined (NNN) 5-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409921-66410577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409262-66409920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:66432181-66432681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8900 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66453793-66454079 Neighboring gene microRNA 635 Neighboring gene WD repeat domain, phosphoinositide interacting 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8902 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66494688-66494871 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66508045-66508618 Neighboring gene Sharpr-MPRA regulatory region 15560 Neighboring gene FAM20A golgi associated secretory pathway pseudokinase Neighboring gene Sharpr-MPRA regulatory region 13674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66627729-66628228 Neighboring gene long intergenic non-protein coding RNA 1482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66682485-66682986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66682987-66683486 Neighboring gene uncharacterized LOC124904049

    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
    Acrodysostosis 1 with or without hormone resistance
    MedGen: C3276228 OMIM: 101800 GeneReviews: Not available
    Compare labs
    Carney complex, type 1
    MedGen: C2607929 OMIM: 160980 GeneReviews: Carney Complex
    Compare labs
    Familial atrial myxoma
    MedGen: C2931787 OMIM: 255960 GeneReviews: Not available
    Compare labs
    Pigmented nodular adrenocortical disease, primary, 1
    MedGen: C1864846 OMIM: 610489 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-10-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2024-10-09)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The exposure of CD4+ T cells to HIV gp120 results in a long-lasting hyporesponsiveness to antigen stimulation through protein kinase A-mediated signaling PubMed
    env Treatment of normal human fibroblasts with HIV-1 gp120 protein results in a significant decrease in the levels of 8-azido-[32P]cAMP binding to RI and RII domains of protein kinase A (PKA) and in PKA activity PubMed
    Nef nef Serine residues Ser6 and Ser9 of HIV-1 Nef are phosphorylated by PKA in a cell-free system; intracellularly, only Ser9 of HIV-1 NL4-3 Nef is phosphorylated by PKA in resting peripheral blood mononuclear cells PubMed
    Tat tat HIV-1 Tat induces IL-6 and TNF-alpha expression through the activation of cAMP-dependent protein kinase pathways PubMed
    Vif vif Protein kinase A (PKA) binds and phosphorylates A3G at Thr32 in vitro and in vivo. This phosphorylation event reduces the binding of A3G to Vif and its subsequent ubiquitination and degradation PubMed
    Vpr vpr HIV-1 Vpr directly interacts with PKA and is phosphorylated at position Ser79 by PKA. PKA activity is necessary for virion-delivered Vpr cell cycle arrest PubMed
    matrix gag HIV-1 MA increases phosphorylation and the DNA-binding activity of CREB and c-Myc through activation of the cAMP/PKA and MEK/ERK signaling pathways. Both signaling pathways are synergistically activated upon co-stimulation through the CD19 receptor PubMed
    gag Protein kinase A (PKA) has been shown to phosphorylate HIV-1 Matrix in vitro PubMed
    gag HIV-1 Matrix impairs proliferation of normal lymphocytes in vitro by inducing the activity of the inhibitory protein kinase A (PKA) 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

    • MGC17251, DKFZp779L0468

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cAMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cAMP-dependent protein kinase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cAMP-dependent protein kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cAMP-dependent protein kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A catalytic subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase A catalytic subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cAMP-dependent protein kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary base TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with immunological synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in multivesicular body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    part_of nucleotide-activated protein kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm head-tail coupling apparatus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cAMP-dependent protein kinase type I-alpha regulatory subunit
    Names
    Carney complex type 1
    cAMP-dependent protein kinase regulatory subunit RIalpha
    cAMP-dependent protein kinase type I-alpha regulatory chain
    epididymis secretory sperm binding protein
    protein kinase A type 1a regulatory subunit
    protein kinase, cAMP-dependent, regulatory subunit type I alpha
    protein kinase, cAMP-dependent, regulatory, type I, alpha
    tissue-specific extinguisher 1
    NP_001263218.1
    NP_001263219.1
    NP_001265362.1
    NP_001356318.1
    NP_001356319.1
    NP_002725.1
    NP_997636.1
    NP_997637.1
    XP_011523286.1
    XP_047292325.1
    XP_047292326.1
    XP_054172611.1
    XP_054172612.1
    XP_054172613.1

    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_007093.3 RefSeqGene

      Range
      5001..142694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_514

    mRNA and Protein(s)

    1. NM_001276289.2NP_001263218.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      See identical proteins and their annotated locations for NP_001263218.1

      Status: REVIEWED

      Source sequence(s)
      AC079210, AY007115, BC093042, DA219203
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000445625.1, ENST00000536854.6
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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. NM_001276290.1NP_001263219.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform b

      Status: REVIEWED

      Source sequence(s)
      AW732104, BC093042
      Consensus CDS
      CCDS62307.1
      UniProtKB/TrEMBL
      K7EM13
      Related
      ENSP00000518555.1, ENST00000711037.1
      Conserved Domains (2) summary
      cd00038
      Location:137246
      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 ...
      cd12101
      Location:1463
      DD_RIalpha_PKA; dimerization/docking (D/D) domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
    3. NM_001278433.2NP_001265362.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      See identical proteins and their annotated locations for NP_001265362.1

      Status: REVIEWED

      Source sequence(s)
      AY007115, BC036285, BC093042, DA108801, M18468
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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_001369389.1NP_001356318.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      Status: REVIEWED

      Source sequence(s)
      AC079210
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000465445.2, ENST00000589017.6
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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 ...
    5. NM_001369390.1NP_001356319.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      Status: REVIEWED

      Source sequence(s)
      AC079210
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000466459.1, ENST00000586397.5
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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 ...
    6. NM_002734.5NP_002725.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      See identical proteins and their annotated locations for NP_002725.1

      Status: REVIEWED

      Source sequence(s)
      AC079210, AY007115, BC036285
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000464977.2, ENST00000589228.6
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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 ...
    7. NM_212471.3NP_997636.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      See identical proteins and their annotated locations for NP_997636.1

      Status: REVIEWED

      Source sequence(s)
      AC079210, AY007115, BC093042, DA413808
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000351410.1, ENST00000358598.6
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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 ...
    8. NM_212472.2NP_997637.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform a

      See identical proteins and their annotated locations for NP_997637.1

      Status: REVIEWED

      Source sequence(s)
      AC079210, AL535889, AY007115, BC093042, DA219203
      Consensus CDS
      CCDS11678.1
      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000376475.1, ENST00000392711.5
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      68413623..68551316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436369.1XP_047292325.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform X1

      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000465013.2, ENST00000588178.6
    2. XM_047436370.1XP_047292326.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform X1

      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
    3. XM_011524984.4XP_011523286.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform X1

      See identical proteins and their annotated locations for XP_011523286.1

      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
      Related
      ENSP00000466649.2, ENST00000589480.6
      Conserved Domains (2) summary
      cd12101
      Location:1463
      DD_RIalpha_PKA; Dimerization/Docking domain of the Type I alpha Regulatory subunit of cAMP-dependent protein kinase
      cd00038
      Location:255370
      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_060941.1 Alternate T2T-CHM13v2.0

      Range
      69290146..69428169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316637.1XP_054172612.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform X1

      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
    2. XM_054316638.1XP_054172613.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform X1

      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4
    3. XM_054316636.1XP_054172611.1  cAMP-dependent protein kinase type I-alpha regulatory subunit isoform X1

      UniProtKB/Swiss-Prot
      K7ER48, P10644, Q567S7
      UniProtKB/TrEMBL
      B2R5T5, Q68DQ4