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PRKAR1A Gene

protein-coding GIFtS: 72

GC17P064019

protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: PRKAR1, TSE1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CAR ^², ⁵
CNC ^²
CNC1 ^², ⁵
DKFZp779L0468 ^²
MGC17251 ^²
PKR1 ^², ³
PPNAD1 ^², ⁵
PRKAR1 ^², ³
TSE1 ^², ³, ⁵

Descriptions
Tissue-specific extinguisher 1 ^², ³
cAMP-dependent protein kinase regulatory subunit RIalpha ^²
cAMP-dependent protein kinase type I-alpha regulatory chain ^²
cAMP-dependent protein kinase, regulatory subunit alpha 1 ^²
protein kinase A type 1a regulatory subunit ^²
protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ^²

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

Search outside databases for aliases for PRKAR1A gene

Previous GC identifers: GC17P066304 GC17P069468 GC17P066972 GC17P067106 GC17P067107

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

EntrezGene 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). Three alternatively

spliced transcript variants encoding the same protein have been observed. [provided by RefSeq]

Gene Wiki entry for PRKAR1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the PRKAR1A gene

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)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P064019: (about GC identifiers)

Start:	64,019,705 bp from pter
End:	64,040,506 bp from pter
Size:	20,802 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000017.9 NT_010641.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 form of the enzyme is composed of two regulatory chains and two catalytic

chains. Activation by cAMP produces two active catalytic monomers and a regulatory dimer that

binds four cAMP molecules. PRKAR1A also interacts with RFC2; the complex may be involved in cell

survival. Interacts with AKAP4

Secondary accessions: Q567S7

Post-translational modifications:

The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain,

resulting in the inhibition of its activity¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_002725.1 NP_997636.1 NP_997637.1

ENSEMBL proteins:

ENSP00000351410 ENSP00000376475 ENSP00000376474

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Protein Kinase A regulatory subunit I alpha)
	Human Recombinant Proteins from Abnova (PRKAR1A)

OriGene Purified Recombinant Human Protein: PRKAR1A

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005952	cAMP-dependent protein kinase complex	IEA	--
GO:0031594	neuromuscular junction	IEA	--

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Antibodies for PRKAR1A:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PRKAR1A
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Protein Kinase A regulatory subunit I alpha), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PRKAR1A)
	Novus Biologicals Antibodies for PRKAR1A

Assays for PRKAR1A:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PRKAR1A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PRKAR1A)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_212471

Applied Biosystems Silencer® siRNAs for PRKAR1A

Sigma-Aldrich siRNA and siRNA Panels for PRKAR1A

Sigma-Aldrich shRNA for PRKAR1A

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for PRKAR1A
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_002734
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_002734
untagged cDNA clones in CMV expression vector (see all 4): NM_002734

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_212471

Genatlas biochemistry entry for PRKAR1A:

protein kinase,cAMP-dependent,regulatory,type I,alpha subunit,expressed at higher levels in

pancreatic beta cells

15/18 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Prkar1a) (see all 18 ):

	adipose tissue	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-prenatal/perinatal	life span-post-weaning/aging	muscle	pigmentation	reproductive system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005515	protein binding	IPI	15655353 17353931
GO:0008603	cAMP-dependent protein kinase regulator activity	TAS	3426618
GO:0030552	cAMP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/34 Sigma-Aldrich "Your Favorite Gene" Pathways for PRKAR1A (Your Favorite Gene powered by Ingenuity) (see all 34 )

GNRH Signaling
CDK5 Signaling
PXR/RXR Activation
G-Protein Coupled Receptor Signaling
Phototransduction Pathway

GeneDecks PRKAR1A for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for PRKAR1A

5/107 Interacting proteins for PRKAR1A (ENSP00000351410³ P10644^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 107 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKACA	P17612¹	STRING (score=.997) EBI-476431, EBI-476586
RFC2	P35250¹	STRING (score=.834) EBI-476431, EBI-476409
AKAP1	Q92667²	STRING (score=.979) MINT-17792
AKAP10	O43572²	STRING (score=.94) MINT-68409
MCRS1	Q96EZ8¹	EBI-476431, EBI-348259

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001707	mesoderm formation	IEA	--
GO:0001932	regulation of protein amino acid phosphorylation	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	1832337
GO:0009755	hormone-mediated signaling	EXP	12626323

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for PRKAR1A

Sigma-Aldrich Small Molecules for PRKAR1A:

Inhibitor

Compounds for PRKAR1A available from Tocris Bioscience

Compound	Action	CAS number
H 89 dihydrochloride	Protein kinase A inhibitor	[127243-85-0]
cAMPS-Rp, triethylammonium salt	cAMP antagonist	[73208-40-9]
8-Bromo-cAMP, sodium salt	Cell-permeable cAMP analog	[76939-46-3]
Dibutyryl-cAMP, sodium salt	Cell-permeable cAMP analog	[16980-89-5]
KT 5720	Selective protein kinase A inhibitor	[108068-98-0]

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10 Novoseek chemical compound relationships for PRKAR1A gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cpccoet	63.40	3	10716234 (2)
calcium	53.41	148	10907347 (5), 17852049 (4), 11089548 (3), 12644311 (3) (see all 54)
cyclic amp	51.36	13	15604237 (1), 16767104 (1), 18223213 (1), 16192737 (1) (see all 8)
l-amino acid	31.12	3	15579475 (2)
gadolinium	4.79	1	11994364 (1)
forskolin	0.00	1	15569313 (1)
cgmp	0.00	1	7589570 (1)
glucose	0.00	2	17003271 (1)
steroid	0.00	2	12692076 (2)
magnesium	0.00	1	8783675 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PRKAR1A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PRKAR1A)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_212471

Sigma-Aldrich siRNA and siRNA Panels for PRKAR1A

Sigma-Aldrich shRNA for PRKAR1A

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002734 NM_212471 NM_212472

REFSEQ mRNAs for PRKAR1A gene (3 alternative transcripts):

NM_002734.3 NM_212471.1 NM_212472.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002734 NM_212471 NM_212472

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_002734
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_002734
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_002734

Additional cDNA sequence:

AK124586.1 AK312307.1 AL050038.1 AY007115.1 BC036285.1 BC093042.1 CR596916.1 CR600338.1

CR609854.1 CR615537.1 CR623371.1 CR626462.1 CR749311.1 M18468.1 M33336.1 Y07642.1

24/44 DOTS entries (see all 44 ):

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.40249249

DT.92476610 DT.100877948 DT.70105281 DT.121011415 DT.91658950 DT.100877949 DT.92476368 DT.95362670

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

BM456083 AA976582 CR600338 AI631743 BQ948610 BQ921392 AW369462 CB241991

H25945 AA721253 CA389288 AI354863 BX645428 AW518133 AU132194 BI754272

BM721628 BE465377 CA868517 BG613254 AI348531 BF058050 AA827091 BE218854

highest scoring ESTs for PRKAR1A:

M33336 AA013469 AA029893 AA035313 AA043202 AA076290 AA090440 AA131917 AA155665 AA157809

Unigene Cluster for PRKAR1A:

Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)

Hs.280342 [show with all ESTs]

Unigene Representative Sequence: CR749311

GeneLoc Exon Structure

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

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:									-										-

About this scheme

ECgene alternative splicing isoforms for PRKAR1A

3 Ensembl transcripts including schematic representations:

ENST00000358598 ENST00000392711 ENST00000392710

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PRKAR1A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PRKAR1A

¹ / ² / ³

10 probe-sets matching PRKAR1A gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
60224_at²^{, 3}	U95-C	1	1.00	1.00	0.81	0.83	AI817785	0.40	1.00	0.76	1
227_g_at²^{, 3}	U95-A	1	1.00	1.00	0.90	1.08	M33336	1.00	1.00	1.00	1
41768_at²^{, 3}	U95-A	1	1.00	1.00	0.67	1.11	M33336	1.00	1.00	1.00	1
226_at²^{, 3}	U95-A	2	1.00	0.97	0.95	0.97	M33336	1.00	1.00	1.00	1
200604_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M18468	0.80	1.00	0.91	1
200605_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_002734	0.60	1.00	0.82	1
200603_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AL050038	0.80	1.00	0.91	1
200604_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
200605_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
200603_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.280342
Expression variation in blood from EXPOLDB for PRKAR1A
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PRKAR1A gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PRKAR1A¹	--	protein kinase, cAMP-dependent, regulatory, type I, more	92.56(n) 97.9(a)	480459 XM_537577.2 XP_537577.2
cow (Bos taurus)	PRKAR1A¹	--	protein kinase, cAMP-dependent, regulatory, type I, more	85.88(n) 97.89(a)	615074 NM_001076358.1 NP_001069826.1
mouse (Mus musculus)	Prkar1a^{1, 5}	11 (65.00 cM)⁵	protein kinase, cAMP dependent regulatory, type I, more^{1, 5}	88.1(n)¹ 96.85(a)¹	19084¹ NM_021880.2¹ NP_068680.1¹ AJ278427⁵ AJ278429⁵ (see all 32)
chicken (Gallus gallus)	PRKAR1A¹	--	protein kinase, cAMP-dependent, regulatory, type I, more	82.41(n) 92.65(a)	417438 NM_001007845.1 NP_001007846.1
zebrafish (Danio rerio)	57089949²	--	--	75.21(n)	57089949

About this table Species with no ortholog for PRKAR1A

ENSEMBL Gene Tree for PRKAR1A

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PRKAR1A gene

ENSG00000215677² PRKAR1B² PRKAR2A² PRKAR2B²

Pseudogenes

2 related pseudogenes

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/116 NCBI SNPs in PRKAR1A are shown (see all 116 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 60)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs8905^1,2	A,C,F,H,O	64039397(+)	`CCTGCT/GGAAAG`	3	--	ut3¹		6		MN EU EA WA	790
--	rs8082254^1,2	A,C,F,H	64039055(+)	`AGAGCG/ATTTGG`	3	--	ut3¹		4		EU EA WA	412
	rs6958^1,2	A,C,F,H	64040373(-)	`CCTTTG/CGCCAT`	3	--	ut3¹ ese³		7		MN EU EA WA	974
	rs9925^1,2	A,C,F,H	64039429(+)	`TTATTT/CCTCTG`	3	--	ut3¹ ese³		10		MN EU EA WA NA	1146
--	rs8080306^1,2	A,F,H	64019838(+)	`GCAGGA/CGGAGG`	3	--	ng5¹ ut5¹ ese³		4		EU EA WA	416
--	rs7977^1,2	C,F	64039962(-)	`AGAACG/ATAATT`	3	--	ut3¹ ese³		3		MN	556
--	rs8080739^1,2	A	64038243(+)	`ATGCAA/GACTGC`	3	--	ut3¹		0	--	--	--	--
	rs1064757^1,2	F	64038281(+)	`TGGCCA/CCTGGC`	3	--	ut3¹ ese³		1		MN	184
--	rs3730349^1,2	A,C	64023222(+)	`CAAGCA/GCTGCT`	3	A/A	syn¹		0	--	--	--	--
--	rs1803241^1,2	C	64038068(+)	`CGTGGC/TCCCTT`	3	G/G	syn¹		1		NA	76

About this table

HapMap Linkage Disequilibrium images for PRKAR1A (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 188830

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 [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

10/41 Novoseek disease relationships for PRKAR1A gene (see all 41 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hypocalcemia, autosomal dominant	89.93	6	10835431 (1), 11089548 (1), 8783675 (1), 15005845 (1) (see all 5)
nshpt	86.49	7	15579740 (2), 8878438 (1), 8783675 (1)
myxoma	85.77	17	15982496 (4), 16001434 (4), 15368482 (1), 16041174 (1) (see all 6)
lentigo	81.78	1	19169494 (1)
cushing syndrome	79.51	9	16001332 (1), 16767104 (1), 16756677 (1), 16189167 (1) (see all 8)
adrenocortical cancer	78.80	3	16001332 (1), 16189167 (1), 17280861 (1)
multiple endocrine neoplasia	78.20	4	16772351 (1), 17613552 (1), 12161540 (1), 17411461 (1)
adrenal hyperplasia	77.79	1	18401830 (1)
adenoma adrenocortical	75.30	4	16001332 (1), 16189167 (1), 16192737 (1), 15591278 (1)
allelic loss	71.46	12	9329389 (1), 16001332 (1), 12203783 (1), 15368482 (1) (see all 9)

About this table

GeneTests: PRKAR1A

Carney Complex

Human Gene Mutation Database: PRKAR1A
Human Genome Epidemiology Navigator: PRKAR1A (2 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/250 PubMed articles for PRKAR1A gene (see all 250 ):

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (PubMed id 12213893)^{1, 3, 4} Groussin L.... Bertherat J. (2002)
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. (PubMed id 18241045)^{1, 3, 4} Greene E.L....Stratakis C.A. (2008)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
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)^{3, 4} Gupte R.S.... Lee M.Y. (2005)
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. (PubMed id 15371594)^{3, 4} Veugelers M....Basson C.T. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{3, 4} Gevaert K.... Vandekerckhove J. (2003)
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)^{3, 4} Solberg R.... Tasken K. (1997)
Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A. (PubMed id 1889088)^{3, 4} Jones K.W.... Fournier R.E. (1991)
The two mRNA forms for the type I alpha regulatory subunit of cAMP- dependent protein kinase from human testis are due to the use of different polyadenylation site signals. (PubMed id 2310396)^{3, 4} Sandberg M.... Jahnsen T. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 5573	HGNC: 9388	AceView: PRKAR1A	Ensembl:ENSG00000108946	euGenes: HUgn5573
ECgene: PRKAR1A	H-InvDB: PRKAR1A

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for PRKAR1A	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=PRKAR1A

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for PRKAR1A:

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PRKAR1A Gene

protein-coding GIFtS: 72

Aliases &
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for PRKAR1A

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for PRKAR1A

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for PRKAR1A

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for PRKAR1A

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PRKAR1A Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor PRKAR1A

Summariesfor PRKAR1A

Genomic Locationfor PRKAR1A

Proteinsfor PRKAR1A

Protein Domains/Familiesfor PRKAR1A

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Specialized Databases showing PRKAR1A

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for PRKAR1A

Summaries
for PRKAR1A

Genomic Location
for PRKAR1A

Proteins
for PRKAR1A

Protein Domains/
Families
for PRKAR1A

Gene Function
for PRKAR1A

Pathways & Interactions
for PRKAR1A

Drugs & Compounds
for PRKAR1A

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for PRKAR1A

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for PRKAR1A

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for PRKAR1A