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FLASH GENE
Symbol PRKAR1A contributors: mct/npt - updated : 09-02-2010
HGNC name protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
HGNC id 9388
Corresponding disease
ADOHR acrodysostosis with hormone resistance
CNC1 Carney complex, type 1
Location 17q24.2      Physical location : 66.508.109 - 66.528.908
Synonym name
  • tissue specific extinguisher 1
  • cAMP-dependent protein kinase type I-alpha regulatory chain
  • Synonym symbol(s) PRKAR1, TSE1, CNC1, CAR, KAPO, DKFZp779L0468, PPNAD1, MGC17251
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 20.80 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC280637 17q24.2 proteasome 26S non-ATPase subunit 7 pseudogene APOH 17q23.2 apolipoprotein H (beta-2-glycoprotein I) PRKCA 17q22-q23.2 protein kinase C, alpha CACNG5 17q24 calcium channel, voltage-dependent, gamma subunit 5 CACNG4 17q24 calcium channel, voltage-dependent, gamma subunit 4 CACNG1 17q24 calcium channel, voltage-dependent, gamma subunit 1 HELZ 17q24.2 helicase with zinc finger domain PSMD12 17q24.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 PITPNC1 17q24.3 phosphatidylinositol transfer protein, cytoplasmic 1 DKFZP586L0724 17q24.3 DKFZP586L0724 protein LOC253924 17q24.3 similar to 60S ribosomal protein L17 (L23) FALZ 17q24 fetal Alzheimer antigen LOC284018 17q24.3 hypothetical protein LOC284018 LOC390809 17 similar to KIAA0563 protein LOC388413 17 similar to PP905 LOC51321 17q24.3 hypothetical protein LOC51321 SLC16A6 17q25.1 solute carrier family 16 (monocarboxylic acid transporters), member 6 KIAA1001 17q23-q24 solute carrier family 16 (monocarboxylic acid transporters), member 6 FLJ10055 17q24.3 hypothetical protein FLJ10055 PRKAR1A 17q23-q24 protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) FAM20A 17q24.3 family with sequence similarity 20, member A ABCA8 17q24 ATP-binding cassette, sub-family A (ABC1), member 8 ABCA9 17q24 ATP-binding cassette, sub-family A (ABC1), member 9 ABCA6 17q24.2 ATP-binding cassette, sub-family A (ABC1), member 6 ABCA10 17q24 ATP-binding cassette, sub-family A (ABC1), member 10 ABCA5 17q21-q25 ATP-binding cassette, sub-family A (ABC1), member 5 MAP2K6 17q23.1-q24.2 mitogen-activated protein kinase kinase 6 LOC388414 17 LOC388414 LOC388415 17 LOC388415 KCNJ16 17q23.1-q21.2 potassium inwardly-rectifying channel, subfamily J, member 16 KCNJ2 17q23.1-q24.2 potassium inwardly-rectifying channel, subfamily J, member 2 LOC390810 17 similar to calmodulin - rabbit (tentative sequence)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 3626 - 381 testis Sandberg, Jones (1991)
    11 splicing 3653 - 381 testis Sandberg, Jones (1991)
    also called PRKAR1A-M
    11 splicing 3657 - 381 T lymphocytes Sandberg, Jones (1991)
    also called PRKAR1A-L
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   highly
    Digestiveliver   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two cyclic nucleotide-binding domains
  • HOMOLOGY
    interspecies homolog to murine KAP1
    Homologene
    FAMILY
  • cAMP-dependent kinase regulatory chain family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • protein kinase, cAMP-dependent, regulatory subunit
  • regulating cAMP signaling and functioning as a tumor suppressor gene
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MYO7A
  • role for dystrobrevin as a scaffold protein that may play a role in different cellular processes involving PRKAR1A signaling
  • interacting partner of BCL2L11
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CNC1 , ADOHR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in aggressive sporadic thyroid cancer
    tumoral   translocation    
    t(10;17) (q11.2-q23) in papillary thyroid carcinoma 2
    tumoral     --low  
    in odontogenic myxomas
    tumoral fusion      
    PRKAR1A-RARA fusion gene in a new variant acute promyelocytic leukemia (Catalano 2007)
    tumoral       loss of function
    inactivating mutations of PRKAR1A observed in adrenocortical tumors alter SMAD3, leading to resistance to TGFbeta-induced apoptosis (Ragazzon 2009)
    Susceptibility to pituitary hyperplasia and tumorigenesis
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS