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

Gene ID: 5573, updated on 27-Nov-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
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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
    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
  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
  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
  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