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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002734 11 splicing 3626 NP_002725 - 381 testis Sandberg, Jones (1991) NM_212471 11 splicing 3653 NP_997636 - 381 testis Sandberg, Jones (1991) also called PRKAR1A-M NM_212472 11 splicing 3657 NP_997637 - 381 T lymphocytes Sandberg, Jones (1991) also called PRKAR1A-L

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus       highly Cardiovascular heart       highly Digestive liver       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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