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

PRKAR1A Gene

protein-coding   GIFtS: 70
GCID: GC17P066508

protein kinase, cAMP-dependent, regulatory, type I, alpha

(Previous name: tissue specific extinguisher 1 )
(Previous symbols: PRKAR1, TSE1)
 Explore 79 diseases affiliated with
PRKAR1A via our new
 Human Malady Compendium 
Biological research products
for PRKAR1A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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:
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)

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

summary for PRKAR1A:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the
  • inhibition of its activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10644

  • PRKAR1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001263218.1  NP_001263219.1  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: 
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    Uscn Proteins for PRKAR1A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0005952cAMP-dependent protein kinase complex IEA--
    GO:0031594neuromuscular junction ----
    GO:0043234protein complex IDA--


    PRKAR1A for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PRKAR1A for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008603cAMP-dependent protein kinase regulator activity IEA--
    GO:0030552cAMP binding IEA--
    GO:0031625ubiquitin protein ligase binding IDA--


    PRKAR1A for ontologies           About GeneDecksing


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

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/66 super-pathways (see all 66About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by FGFR
    8/12 pathways (see all 12)
    Signaling by FGFR1.00
    DAP12 signaling0.83
    Downstream signaling of activated FGFR0.92
    Signaling by EGFR in Cancer0.83
    Signaling by FGFR in disease0.91
    DAP12 interactions0.76
    Signaling by ERBB20.89
    Signaling by PDGF0.72
    2PKA activation in glucagon signalling
    8/12 pathways (see all 12)
    PKA activation in glucagon signalling1.00
    Neurophysiological process_PGE2-induced pain processing0.44
    PKA activation0.94
    Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling0.37
    PKA-mediated phosphorylation of CREB0.89
    Development_Role of Activin A in cell differentiation and proliferation0.33
    Regulation of CFTR gating (normal and CF)0.76
    Development Role of Activin A in cell differentiation and proliferation0.33
    3DAG and IP3 signaling
    DAG and IP3 signaling1.00
    CaM pathway0.84
    PLC-gamma1 signalling0.94
    Calmodulin induced events0.84
    EGFR interacts with phospholipase C-gamma0.94
    Ca-dependent events0.79
    PLCG1 events in ERBB2 signaling0.91
    Phospholipase C-mediated cascade0.57
    4G-protein signaling_G-Protein alpha-i signaling cascades
    G-protein signaling_G-Protein alpha-i signaling cascades1.00
    Development Beta-adrenergic receptors regulation of ERK0.55
    G-protein signaling G-Protein alpha-i signaling cascades1.00
    G-protein signaling_G-Protein alpha-s signaling cascades0.44
    Development_Beta-adrenergic receptors regulation of ERK0.55
    G-protein signaling G-Protein alpha-s signaling cascades0.44
    5G Protein Signaling Pathways
    G Protein Signaling Pathways1.00
    Signal transduction_PKA signaling0.23
    Signal transduction cAMP signaling0.44
    Signal transduction PKA signaling0.23
    Signal transduction_cAMP signaling0.44

    Pathway sources
    See GeneCards unified pathways
    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
        SIDS Susceptibility Pathways
    EGFR1 Signaling Pathway
    Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    G Protein Signaling 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)

    5/147 Interacting proteins for PRKAR1A (P106441, 2, 3 ENSP000003514104) via UniProtKB, MINT, STRING, and/or I2D (see all 147)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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
    PRKXP518171, 3, ENSP000002628484EBI-476431,EBI-4302903 I2D: score=2 STRING: ENSP00000262848
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation ----
    GO:0006112energy reserve metabolic process TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS1832337
    GO:0006833water transport TAS--
    GO:0007165signal transduction TAS--


    PRKAR1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    H 89 dihydrochlorideProtein kinase A inhibitor[127243-85-0]
    8-Bromo-cAMP, sodium salt Cell-permeable cAMP analog[76939-46-3]
    cAMPS-Rp, triethylammonium salt cAMP antagonist[73208-40-9]
    KT 5720Selective protein kinase A inhibitor[108068-98-0]
    Dibutyryl-cAMP, sodium salt Cell-permeable cAMP analog[16980-89-5]

    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for PRKAR1A gene (5 alternative transcripts): 
    NM_001276289.1  NM_001276290.1  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: CR749311
    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

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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
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    Additional cDNA sequence: 

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

    24/40 DOTS entries (see all 40):

    DT.302776  DT.95362712  DT.99927439  DT.99984295  DT.100877957  DT.102835354  DT.95362652  DT.100765770 
    DT.121011433  DT.100877954  DT.100769055  DT.92476611  DT.97855563  DT.95362649  DT.121011456  DT.92476610 
    DT.121011415  DT.70105281  DT.100877949  DT.40276143  DT.92476368  DT.100877943  DT.100877948  DT.121011402 

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

    AA721253 BG231866 CA868517 CA389288 AU118860 AA315051 BG200314 AA976582 
    CA413655 AI446693 BF438916 BI963024 BQ022222 BG055240 AA827091 BP348978 
    CD109010 AV718955 BX506740 BM672164 BE327987 BQ425949 AA313159 BQ892583 

    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
    CGAP TAG: TGTGCTAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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.

    Orthologs for PRKAR1A gene from 6/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    92(a)
    1 ↔ 1
    GL343260.1(1702189-1718380)
    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
    57(a)
    1 → many
    X(5971660-5977819)


    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, UniProtKB, 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

    10/451 NCBI SNPs in PRKAR1A are shown (see all 451    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38415141,2
    Cnon-pathogenic61905595(+) TCTTT-/TTCTAG 3 -- int10--------
    rs748636341,2
    C,F,non-pathogenic79909786(+) AATCTG/ACAGAA 6 /L syn12Minor allele frequency- A:0.01WA NA 4668
    rs37303491,2
    C,F,A,H,non-pathogenic79917082(+) CAAGCG/ACTGCT 6 /A syn14Minor allele frequency- A:0.01NA EU 5985
    rs1378533031,2
    Cpathogenic79909770(+) GCACTC/TGTACA 6 R C mis11Minor allele frequency- T:0.00NA 4550
    rs764933121,2
    --61892525(+) CCTTCG/TTTGTA 3 -- us2k10--------
    rs129406511,2
    C--61893084(+) TATTGA/TGTTGA 3 -- us2k1 tfbs30--------
    rs620874861,2
    --61893324(+) ATTAGG/TGCAGC 3 -- us2k11Minor allele frequency- T:0.50NA 2
    rs789191091,2
    F,--61894108(+) GCTGTG/TGATAA 3 -- us2k1 int11Minor allele frequency- T:0.03NA 120
    rs1118154631,2
    --61894186(+) ACCAGA/G/TGGGGA 3 -- us2k1 int12CSA WA 120
    rs286759721,2
    --61894898(+) GCAGTA/TGCCTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for PRKAR1A (66409764 - 66547460 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PRKAR1A: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PRKAR1A for disorders           About GeneDecksing

    OMIM gene information: 188830   
    OMIM disorders: 160980  255960  188550  610489  
    UniProtKB/Swiss-Prot: KAP0_HUMAN, P10644
  • Defects in PRKAR1A are the cause of Carney complex type 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
  • Defects in PRKAR1A are the cause of intracardiac myxoma (INTMYX) [MIM:255960]. Inheritance is autosomal
  • recessive
  • Defects in PRKAR1A are the cause of primary pigmented nodular adrenocortical disease type 1 (PPNAD1)
  • [MIM:610489]. Primary pigmented nodular adrenocortical disease is 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. PPNAD1 is most often diagnosed in patients with Carney complex, but it can also
    be observed in patients without other manifestations or familial history
  • Defects in PRKAR1A are the cause of acrodysostosis type 1, with or without hormone resistance (ACRDYS1)
  • [MIM:101800]. ACRDYS1 is 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

    20/79 diseases for PRKAR1A (see all 79):    About MalaCards
    carney complex    central nervous system origin vertigo    pigmented adrenocortical disease, primary, 1    peutz-jeghers syndrome
    growth hormone secreting pituitary adenoma    hypocalcemia, autosomal dominant    pigmented adrenocortical disease    primary pigmented nodular adrenocortical disease
    multiple endocrine neoplasia    thyroiditis    adrenocortical tumor, somatic    mccune albright syndrome
    hypocalciuric hypercalcemia    hypocalcemia    myxoma    common variable immunodeficiency
    odontogenic myxoma    parathyroid adenoma    adrenal hyperplasia    pituitary adenoma

    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

    10/45 Novoseek 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
    Carney Complex

    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 341):
    (articles sorted by number of sources associating them with PRKAR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Control of PKA stability and signalling by the RING ligase praja2. (PubMed id 21423175)1, 2 Lignitto L.... Feliciello A. (2011)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The second subunit of the replication factor C complex (RFC40) and the regulatory subunit (RIalpha) of protein kinase A form a protein complex promoting cell survival. (PubMed id 15655353)1, 2 Gupte R.S.... Lee M.Y. (2005)
    6. Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. (PubMed id 15371594)1, 2 Veugelers M....Basson C.T. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    9. The human gene for the regulatory subunit RI alpha of cyclic adenosine 3', 5'-monophosphate-dependent protein kinase: two distinct promoters provide differential regulation of alternately spliced messenger ribonucleic acids. (PubMed id 8977401)1, 2 Solberg R.... Tasken K. (1997)
    10. Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A. (PubMed id 1889088)1, 2 Jones K.W.... Fournier R.E. (1991)

    (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



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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRKAR1A
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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