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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRKAR1A Gene

protein-coding   GIFtS: 73
GCID: GC17P066508

Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha

(Previous name: tissue specific extinguisher 1)
(Previous symbols: PRKAR1, TSE1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha1 2     Tissue Specific Extinguisher 11
TSE11 2 3 5     ACRDYS12
PRKAR11 2 3     ADOHR2
Tissue-Specific Extinguisher 12 3     CNC2
PKR12 3     CAMP-Dependent Protein Kinase Regulatory Subunit RIalpha2
CAR2 5     CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain2
CNC12 5     CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Subunit2
PPNAD12 5     Protein Kinase A Type 1a Regulatory Subunit2

External Ids:    HGNC: 93881   Entrez Gene: 55732   Ensembl: ENSG000001089467   OMIM: 1888305   UniProtKB: P106443   

Export aliases for PRKAR1A gene to outside databases

Previous GC identifers: GC17P066304 GC17P069468 GC17P066972 GC17P067106 GC17P067107 GC17P064019 GC17P061893


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRKAR1A Gene:
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)

GeneCards Summary for PRKAR1A Gene: 
PRKAR1A (protein kinase, cAMP-dependent, regulatory, type I, alpha) is a protein-coding gene. Diseases associated with PRKAR1A include carney complex, and primary pigmented nodular adrenocortical disease, and among its related super-pathways are PKA activation in glucagon signalling and Regulation of Water Balance by Renal Aquaporins. GO annotations related to this gene include cAMP binding and ubiquitin protein ligase binding. An important paralog of this gene is PRKAR1B.

UniProtKB/Swiss-Prot: KAP0_HUMAN, P10644
Function: Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells

summary for PRKAR1A Gene:
Protein kinase A (PKA, aka cAMP-dependent protein kinase) is involved in the regulation of lipid and glucose
metabolism and is a component of the signal transduction mechanism of certain GPCRs. Protein kinase A is
composed of two regulatory subunits and two catalytic subunits. There are multiple isoforms of the
regulatory subunit (RIalpha- and RIbeta-, RIIalpha- and RIIbeta-). Binding of cAMP to the regulatory subunit
releases the catalytic subunits, which then phosphorylate a diverse set of proteins including the
transcription factor CREB, ion channels and metabolic enzymes. Protein kinase A is localized to specific
sites near these substrates within cells by scaffold proteins known as A kinase anchoring proteins (AKAPs).

Gene Wiki entry for PRKAR1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRKAR1A gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRKAR1A promoter sequence
   Search SABiosciences Chromatin IP Primers for PRKAR1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRKAR1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q23-q24   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q23-q24

PRKAR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRKAR1A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P066508:  view genomic region     (about GC identifiers)

Start:
66,409,764 bp from pter      End:
66,547,460 bp from pter
Size:
137,697 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KAP0_HUMAN, P10644 (See protein sequence)
Recommended Name: cAMP-dependent protein kinase type I-alpha regulatory subunit  
Size: 381 amino acids; 42982 Da
Subunit: The inactive holoenzyme is composed of two regulatory chains and two catalytic chains. Activation by cAMP
releases the two active catalytic monomers and the regulatory dimer. PRKAR1A also interacts with RFC2; the
complex may be involved in cell survival. Interacts with AKAP4. Interacts with RARA; the interaction occurs in
the presence of cAMP or FSH and regulates RARA transcriptional activity. Interacts with the phosphorylated form
of PJA2. Interacts with CBFA2T3 (By similarity). Interacts with PRKX; regulates this cAMP-dependent protein
kinase. Interacts with C2orf88/smAKAP; this interaction may target PRKAR1A to the plasma membrane. Interacts with
AICDA
Subcellular location: Cell membrane
Secondary accessions: Q567S7

Explore the universe of human proteins at neXtProt for PRKAR1A: NX_P10644

Explore proteomics data for PRKAR1A at MOPED 

Post-translational modifications:

  • UniProtKB: The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the
    inhibition of its activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10644

  • PRKAR1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRKAR1A Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001263218.1  NP_001263219.1  NP_001265362.1  NP_002725.1  NP_997636.1  NP_997637.1  

    ENSEMBL proteins: 
     ENSP00000467057   ENSP00000465445   ENSP00000351410   ENSP00000464715   ENSP00000466722  
     ENSP00000464977   ENSP00000376474   ENSP00000445625   ENSP00000464701   ENSP00000467500  
     ENSP00000467311   ENSP00000466649   ENSP00000467867   ENSP00000466459   ENSP00000465013  
     ENSP00000468106   ENSP00000466314   ENSP00000465740   ENSP00000376475  
    Reactome Protein details: P10644
    Human Recombinant Protein Products for PRKAR1A: 
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    Sino Biological Recombinant Protein for PRKAR1A
    Sino Biological Cell Lysate for PRKAR1A 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0005952cAMP-dependent protein kinase complex IEA--
    GO:0031588AMP-activated protein kinase complex IDA--

    PRKAR1A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: protein kinase, cAMP-dependent, regulatory, type I, alpha subunit 
    Protein kinase A
    Protein kinase A (PKA) family

    5/7 InterPro protein domains (see all 7):
     IPR003117 cAMP_dep_PK_reg_su_I/II_a/b
     IPR018488 cNMP-bd_CS
     IPR018490 cNMP-bd-like
     IPR000595 cNMP-bd_dom
     IPR012198 cAMP_dep_PK_reg_su

    Graphical View of Domain Structure for InterPro Entry P10644

    ProtoNet protein and cluster: P10644

    3 Blocks protein domains:
    IPB000595 Cyclic nucleotide-binding domain
    IPB002373 cAMP-dependent protein kinase signature
    IPB003117 cAMP-dependent protein kinase regulator


    UniProtKB/Swiss-Prot: KAP0_HUMAN, P10644
    Similarity: Belongs to the cAMP-dependent kinase regulatory chain family
    Similarity: Contains 2 cyclic nucleotide-binding domains


    PRKAR1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KAP0_HUMAN, P10644
    Function: Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells

         Genatlas biochemistry entry for PRKAR1A:
    protein kinase,cAMP-dependent,regulatory,type I,alpha subunit,expressed at higher levels in pancreatic beta cells

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004862cAMP-dependent protein kinase inhibitor activity IDA--
    GO:0005515protein binding IPI11414803
    GO:0008603cAMP-dependent protein kinase regulator activity IDA--
    GO:0030552cAMP binding IEA--
    GO:0031625ubiquitin protein ligase binding IDA--
         
    PRKAR1A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PRKAR1A:
     Increased cell number in S and  Increased cilium length after  

         15/20 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Prkar1a) (see all 20):
     adipose tissue  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  normal  pigmentation 

    PRKAR1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PRKAR1A: Prkar1atm1.1Lsk Prkar1atm1Gsm

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRKAR1A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRKAR1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRKAR1A 
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    SwitchGear 3'UTR luciferase reporter plasmidPRKAR1A 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for PRKAR1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PRKAR1A (NM_002734)
    Sino Biological Human cDNA Clone for PRKAR1A
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRKAR1A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PRKAR1A About   (see all 63)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1PKA activation in glucagon signalling
    PKA activation in glucagon signalling0.94
    Neurophysiological process PGE2-induced pain processing0.44
    PKA-mediated phosphorylation of CREB0.94
    Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling0.38
    PKA activation0.94
    Development Role of Activin A in cell differentiation and proliferation0.33
    Regulation of CFTR gating (normal and CF)0.80
    Development Beta-adrenergic receptors signaling via cAMP0.32
    2Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.84
    Glucagon signaling in metabolic regulation0.69
    Aquaporin-mediated transport0.84
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    3Signal transduction cAMP signaling
    Signal transduction cAMP signaling0.44
    G Protein Signaling Pathways0.44
    414-3-3 Induced Apoptosis
    Apoptosis0.37
    14-3-3 Induced Apoptosis0.37
    5Translation Insulin regulation of translation
    Regulation of lipid metabolism Insulin signaling:generic cascades0.59
    Insulin signaling pathway0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/26 EMD Millipore Pathways for PRKAR1A (see all 26)
        Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Development A1 receptor signaling
    Development Ligand-independent activation of ESR1 and ESR2
    Transcription PPAR Pathway

    5/52 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRKAR1A (see all 52)
        Nuclear Receptor Activation by Vitamin-A
    14-3-3 Induced Apoptosis
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    CDK5 Pathway

    2 Cell Signaling Technology (CST) Pathways for PRKAR1A
        Ca, cAMP and Lipid Signaling
    Neuroscience

    5/32 GeneGo (Thomson Reuters) Pathways for PRKAR1A (see all 32)
        Development A2A receptor signaling
    Signal transduction cAMP signaling
    Transcription PPAR Pathway
    G-protein signaling G-Protein alpha-i signaling cascades
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    5/6 BioSystems Pathways for PRKAR1A (see all 6)
        Myometrial Relaxation and Contraction Pathways
    EGFR1 Signaling Pathway
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    SIDS Susceptibility Pathways


    5/42        Reactome Pathways for PRKAR1A (see all 42)
        PKA activation
    Signaling by EGFR in Cancer
    DARPP-32 events
    Downstream signal transduction
    Signal Transduction


    2         Kegg Pathways  (Kegg details for PRKAR1A):
        Apoptosis
    Insulin signaling pathway


    PRKAR1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRKAR1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/149 Interacting proteins for PRKAR1A (P106441, 2, 3 ENSP000003514104) via UniProtKB, MINT, STRING, and/or I2D (see all 149)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAP176121, 3, ENSP000003095914EBI-476431,EBI-476586 I2D: score=7 STRING: ENSP00000309591
    AKAP10O435722, 3, ENSP000002257374MINT-68409 I2D: score=6 STRING: ENSP00000225737
    PYCARDQ9ULZ32, 3, ENSP000002474704MINT-68047 I2D: score=5 STRING: ENSP00000247470
    RFC2P352501, 3, ENSP000000550774EBI-476431,EBI-476409 I2D: score=3 STRING: ENSP00000055077
    SMAD2Q157962, 3, ENSP000002621604MINT-60922 I2D: score=3 STRING: ENSP00000262160
    About this table

    Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation IEA--
    GO:0001932regulation of protein phosphorylation ----
    GO:0006112energy reserve metabolic process TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS1832337
    GO:0006469negative regulation of protein kinase activity ----

    PRKAR1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRKAR1A for compounds           About GeneDecksing

    EMD Millipore small molecules for PRKAR1A:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PRKAR1A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    cAMPS-Sp, triethylammonium salt Cell-permeable cAMP analog[71774-13-5]
    H 89 dihydrochlorideProtein kinase A inhibitor[127243-85-0]
    PKI 14-22 amide, myristoylated Cell-permeable protein kinase A inhibitor[201422-03-9]
    PKA inhibitor fragment (6-22) amidePotent protein kinase A inhibitor[121932-06-7]
    KT 5720Selective protein kinase A inhibitor[108068-98-0]

    1 HMDB Compound for PRKAR1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    3 DrugBank Compounds for PRKAR1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cyclic Adenosine Monophosphate3'-5'-cyclic adenosine monophosphate (see all 5)60-92-4target--17139284 17016423 10592235
    Cyclic Guanosine Monophosphate-- 7665-99-8target--17139284 17016423 10592235
    Sp-Adenosine-3',5'-Cyclic-Monophosphorothioate-- --target--17139284 17016423 10592235

    10/18 Novoseek inferred chemical compound relationships for PRKAR1A gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cpccoet 60.9 3 10716234 (2)
    cinacalcet 58.7 6 14593085 (3), 16882283 (2)
    calcium 53.4 154 10907347 (5), 17852049 (4), 11089548 (3), 15697170 (3) (see all 57)
    cyclic amp 49.2 13 15604237 (1), 16767104 (1), 18223213 (1), 16192737 (1) (see all 8)
    l-amino acid 47.8 3 15579475 (2)
    vitamin d 23.4 9 19724293 (2), 10048455 (1), 19667166 (1), 12412775 (1) (see all 5)
    neomycin 20.9 6 15067332 (3), 11994364 (1)
    dexamethasone 15.9 1 12915689 (1)
    cgmp 10.9 1 7589570 (1)
    glucose 4.57 2 17003271 (1)

    Search CenterWatch for drugs/clinical trials and news about PRKAR1A / KAP0

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRKAR1A gene (6 alternative transcripts): 
    NM_001276289.1  NM_001276290.1  NM_001278433.1  NM_002734.4  NM_212471.2  NM_212472.2  

    Unigene Cluster for PRKAR1A:

    Protein kinase, cAMP-dependent, regulatory, type I, alpha
    Hs.280342  [show with all ESTs]
    Unigene Representative Sequence: NM_212471
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000590353 ENST00000589017 ENST00000358598(uc002jhg.3) ENST00000592194
    ENST00000585427 ENST00000585608 ENST00000589228 ENST00000585460 ENST00000392710(uc002jhi.3 uc002jhk.3)
    ENST00000536854(uc002jhj.3 uc002jhl.3) ENST00000588702 ENST00000589309
    ENST00000585981 ENST00000589480 ENST00000585815 ENST00000586397 ENST00000588178
    ENST00000588188
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate PRKAR1A (see all 49):
    hsa-miR-1321 hsa-miR-429 hsa-miR-200a hsa-miR-30d hsa-miR-138-2* hsa-miR-192 hsa-miR-141 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidPRKAR1A 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK124586.1 AK312307.1 AL050038.1 AY007115.1 BC036285.1 BC093042.1 CR749311.1 M18468.1 
    M33336.1 Y07642.1 

    24/36 DOTS entries (see all 36):

    DT.302776  DT.95362712  DT.99927439  DT.99984295  DT.100877957  DT.102835354  DT.95362652  DT.100765770 
    DT.100877954  DT.121011433  DT.100769055  DT.92476611  DT.97855563  DT.121011456  DT.92476610  DT.121011415 
    DT.70105281  DT.100877949  DT.40276143  DT.92476368  DT.100877943  DT.100877948  DT.121011402  DT.121011503 

    24/908 AceView cDNA sequences (see all 908):

    BQ892583 BM477246 BQ218831 CB529158 BE349226 AW193964 CD723170 AA553493 
    AA317060 BQ420565 AI143568 BQ878665 BP353193 AL045041 BU188258 BQ014813 
    AA329900 AW369462 BQ921392 AA232301 BQ575197 BG106229 BX645428 AU118445 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for PRKAR1A (see all 21)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h · 2i ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^
    SP1:              -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                       
    SP2:                                                              -     -     -     -     -     -     -     -     -     -                                       
    SP3:                                                              -     -     -     -     -     -     -     -     -     -                       -               
    SP4:                                                                                                                                                            
    SP5:              -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                             

    ExUns: 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d
    SP1:                          -                             -                                               -                                       
    SP2:                          -                             -                                               -                                       
    SP3:                          -                             -                                               -                                       
    SP4:                          -                             -                                               -                                       
    SP5:                          -                             -                                                                                       


    ECgene alternative splicing isoforms for PRKAR1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRKAR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGCTAATA
    PRKAR1A Expression
    About this image


    See PRKAR1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRKAR1A

    SOURCE GeneReport for Unigene cluster: Hs.280342

    UniProtKB/Swiss-Prot: KAP0_HUMAN, P10644
    Tissue specificity: Four types of regulatory chains are found: I-alpha, I-beta, II-alpha, and II-beta. Their
    expression varies among tissues and is in some cases constitutive and in others inducible

        SABiosciences Expression via Pathway-Focused PCR Arrays including PRKAR1A: 
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              Circadian Rhythms in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRKAR1A gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prkar1a1 , 5 protein kinase, cAMP dependent regulatory, type I, more1, 5 88.1(n)1
    96.85(a)1
      11 (72.33 cM)5
    190841  NM_021880.21  NP_068680.11 
     1096494055 
    chicken
    (Gallus gallus)
    Aves PRKAR1A1 protein kinase, cAMP-dependent, regulatory, type I, more 82.41(n)
    92.65(a)
      417438  NM_001007845.1  NP_001007846.1 
    lizard
    (Anolis carolinensis)
    Reptilia PRKAR1A6
    Uncharacterized protein
    92(a)
    1 ↔ 1
    GL343260.1(1696461-1718380)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.35022 Xenopus laevis transcribed sequence with moderate similarity more 80.85(n)    CA793080.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570899492   -- 75.21(n)    57089949 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pka-R13 actin filament organization
    cAMP-dependent protein more
    72(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea kin-26
    cAMP-dependent protein kinase regulatory subunit
    56(a)
    1 → many
    X(5971695-5977854)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BCY16
    Regulatory subunit of the cyclic AMP-dependent pro...
    28(a)
    1 → many
    IX(290419-291669)


    ENSEMBL Gene Tree for PRKAR1A (if available)
    TreeFam Gene Tree for PRKAR1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRKAR1A gene
    PRKAR1B2  PRKAR2A2  PRKAR2B2  
    8 SIMAP similar genes for PRKAR1A using alignment to 17 protein entries:     KAP0_HUMAN (see all proteins):
    RET/PTC2    DKFZp779L0468    PRKAR1A/RARA fusion    PRKAR1B    PRKAR2B    PRKAR2A
    PRKG1    WUGSC

    PRKAR1A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PRKAR1A
    PGOHUM00000244795


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/592 SNPs in PRKAR1A are shown (see all 592)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0694614
    Acrodysostosis 1, with or without hormone resistance (ACRDYS1)4--see VAR_0694612 I T mis40--------
    VAR_0468974
    Carney complex 1 (CNC1)4--see VAR_0468972 D Y mis40--------
    VAR_0468994
    Carney complex 1 (CNC1)4--see VAR_0468992 G W mis40--------
    VAR_0694564
    Acrodysostosis 1, with or without hormone resistance (ACRDYS1)4--see VAR_0694562 A T mis40--------
    VAR_0694604
    Acrodysostosis 1, with or without hormone resistance (ACRDYS1)4--see VAR_0694602 G E mis40--------
    VAR_0468954
    Carney complex 1 (CNC1)4--see VAR_0468952 R C mis40--------
    VAR_0468944
    Carney complex 1 (CNC1)4--see VAR_0468942 S N mis40--------
    VAR_0682414
    Acrodysostosis 1, with or without hormone resistance (ACRDYS1)4--see VAR_0682412 Y H mis40--------
    VAR_0694594
    Acrodysostosis 1, with or without hormone resistance (ACRDYS1)4--see VAR_0694592 Q R mis40--------
    VAR_0694654
    Acrodysostosis 1, with or without hormone resistance (ACRDYS1)4--see VAR_0694652 Y C mis40--------

    HapMap Linkage Disequilibrium report for PRKAR1A (66409764 - 66547460 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PRKAR1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833524CNV Gain17160897
    nsv833523CNV Gain17160897


    Human Gene Mutation Database (HGMD): PRKAR1A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 188830   
    OMIM disorders: 160980  255960  188550  610489  
    UniProtKB/Swiss-Prot: KAP0_HUMAN, P10644
  • Carney complex 1 (CNC1) [MIM:160980]: CNC is a multiple neoplasia syndrome characterized by spotty skin
    pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Intracardiac myxoma (INTMYX) [MIM:255960]: Inheritance is autosomal recessive. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Primary pigmented nodular adrenocortical disease 1 (PPNAD1) [MIM:610489]: A rare bilateral adrenal defect
    causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small
    pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and
    truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is
    most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be
    observed in patients without other manifestations. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]: A form of skeletal dysplasia
    characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected
    individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones,
    including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not
    all patients show endocrine abnormalities. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/70 diseases for PRKAR1A (see all 70):    About MalaCards
    carney complex    primary pigmented nodular adrenocortical disease    acrodysostosis    atrial myxoma, familial
    acrodysostosis 1, with or without hormone resistance    central nervous system origin vertigo    pigmented adrenocortical disease, primary, 1    acrodysostosis with multiple hormone resistance
    pigmented nodular adrenocortical disease, primary, 2    familial isolated pituitary adenoma    odontogenic myxoma    autoimmune hypoparathyroidism
    wermer syndrome    peutz-jeghers syndrome    endocrine diseases    pituitary adenoma
    growth hormone secreting pituitary adenoma    hypoparathyroidism    thyroid adenoma    lipomatosis

    9 diseases from the University of Copenhagen DISEASES database for PRKAR1A:
    Carney complex     Acrodysostosis     Cushing's syndrome     McCune Albright syndrome
    Wermer syndrome     Adenoma     Central nervous system origin vertigo     Peutz-Jeghers syndrome
    Pituitary adenoma

    PRKAR1A for disorders           About GeneDecksing

    10/45 Novoseek inferred disease relationships for PRKAR1A gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypocalcemia, autosomal dominant 89.2 6 10835431 (1), 11089548 (1), 8783675 (1), 15005845 (1) (see all 5)
    myxoma 86 22 15982496 (4), 16001434 (4), 19494712 (3), 19293268 (2) (see all 8)
    nshpt 85.1 7 15579740 (2), 8878438 (1), 8783675 (1)
    cushing syndrome 82.2 11 16001332 (1), 16767104 (1), 16756677 (1), 19833579 (1) (see all 9)
    lentigo 81.9 2 20358582 (1), 19169494 (1)
    adrenal hyperplasia 81.2 1 18401830 (1)
    multiple endocrine neoplasia 78.4 4 16772351 (1), 17613552 (1), 12161540 (1), 17411461 (1)
    adenoma adrenocortical 78.1 4 16001332 (1), 16189167 (1), 16192737 (1), 15591278 (1)
    adrenocortical cancer 76.8 3 16001332 (1), 16189167 (1), 17280861 (1)
    lentigines 76.4 2 19833579 (1)

    GeneTests: PRKAR1A
    GeneReviews: PRKAR1A
    Genetic Association Database (GAD): PRKAR1A
    Human Genome Epidemiology (HuGE) Navigator: PRKAR1A (6 documents)

    Export disorders for PRKAR1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRKAR1A gene, integrated from 9 sources (see all 358):
    (articles sorted by number of sources associating them with PRKAR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in regulatory subunit type 1A of cyclic AMP-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. (PubMed id 19293268)1, 4, 9 Bertherat J....Stratakis C.A. (2009)
    2. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (PubMed id 12213893)1, 2, 9 Groussin L.... Bertherat J. (2002)
    3. In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. (PubMed id 18241045)1, 2, 9 Greene E.L....Stratakis C.A. (2008)
    4. Abnormalities of cAMP signaling are present in adrenocortical lesions associated with corticotropin-independent Cushing syndrome despite the absence of mutations in known genes. (PubMed id 19429701)1, 4, 9 Bimpaki E....Stratakis C. (2009)
    5. PRKAR1A and PDE4D mutations cause acrodysostosis but t wo distinct syndromes with or without GPCR-signaling hormone resistance. (PubMed id 23043190)1, 2 Linglart A....Silve C. (2012)
    6. Control of PKA stability and signalling by the RING ligase praja2. (PubMed id 21423175)1, 2 Lignitto L.... Feliciello A. (2011)
    7. Recurrent PRKAR1A mutation in acrodysostosis with hor mone resistance. (PubMed id 21651393)1, 2 Linglart A....Silve C. (2011)
    8. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and C DKN2C mutations in causing pituitary adenomas in a large cohort of children, ad olescents, and patients with genetic syndromes. (PubMed id 20507346)1, 4 Stratakis C.A....Beckers A. (2010)
    9. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5573 HGNC: 9388 AceView: PRKAR1A Ensembl:ENSG00000108946 euGenes: HUgn5573
    ECgene: PRKAR1A Kegg: 5573 H-InvDB: PRKAR1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRKAR1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRKAR1A Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRKAR1A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRKAR1A gene:
    Search GeneIP for patents involving PRKAR1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     inGenious Targeting Laboratory - Custom generated mouse model solutions for PRKAR1A
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    Customized:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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