Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PRKACA Gene

Aliases for PRKACA Gene

  • Protein Kinase, CAMP-Dependent, Catalytic, Alpha 2 3
  • EC 2.7.11.11 4 63
  • PKA C-Alpha 3 4
  • PKACA 3 4
  • CAMP-Dependent Protein Kinase Catalytic Subunit Alpha 3
  • Protein Kinase A Catalytic Subunit 3
  • EC 2.7.11 63
  • PPNAD4 3

External Ids for PRKACA Gene

Previous GeneCards Identifiers for PRKACA Gene

  • GC19M014557
  • GC19M014047
  • GC19M014063
  • GC19M014202
  • GC19M013774

Summaries for PRKACA Gene

Entrez Gene Summary for PRKACA Gene

  • This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. 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. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]

GeneCards Summary for PRKACA Gene

PRKACA (Protein Kinase, CAMP-Dependent, Catalytic, Alpha) is a Protein Coding gene. Diseases associated with PRKACA include pigmented nodular adrenocortical disease, primary, 4 and hepatocellular fibrolamellar carcinoma. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include protein kinase binding and protein kinase A regulatory subunit binding. An important paralog of this gene is PRKG1.

UniProtKB/Swiss-Prot for PRKACA Gene

  • Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP. Prevents the antiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated. RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activation by phosphorylation stimulates proteasome. Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding. Involved in embryonic development by down-regulating the Hedgehog (Hh) signaling pathway that determines embryo pattern formation and morphogenesis. Prevents meiosis resumption in prophase-arrested oocytes via CDC25B inactivation by phosphorylation. May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT). Phosphorylates APOBEC3G and AICDA. Isoform 2 phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation.

Tocris Summary for PRKACA 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 PRKACA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKACA Gene

Genomics for PRKACA Gene

Regulatory Elements for PRKACA Gene

Genomic Location for PRKACA Gene

Start:
14,091,688 bp from pter
End:
14,118,084 bp from pter
Size:
26,397 bases
Orientation:
Minus strand

Genomic View for PRKACA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRKACA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKACA Gene

Proteins for PRKACA Gene

  • Protein details for PRKACA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17612-KAPCA_HUMAN
    Recommended name:
    cAMP-dependent protein kinase catalytic subunit alpha
    Protein Accession:
    P17612
    Secondary Accessions:
    • Q32P54
    • Q9H2Y0
    • Q9NRB4
    • Q9NRH9

    Protein attributes for PRKACA Gene

    Size:
    351 amino acids
    Molecular mass:
    40590 Da
    Quaternary structure:
    • A number of inactive tetrameric holoenzymes are produced by the combination of homo- or heterodimers of the different regulatory subunits associated with 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. The cAMP-dependent protein kinase catalytic subunit binds PJA2. Both isoforms 1 and 2 forms activate cAMP-sensitive PKAI and PKAII holoenzymes by interacting with regulatory subunit (R) of PKA, PRKAR1A/PKR1 and PRKAR2A/PKR2, respectively. Interacts with NFKB1, NFKB2 and NFKBIA in platelets; these interactions are disrupted by thrombin and collagen. Binds to ABL1 in spermatozoa and with CDC25B in oocytes. Interacts with APOBEC3G and AICDA. Interacts with RAB13; downstream effector of RAB13 involved in tight junction assembly.

    Three dimensional structures from OCA and Proteopedia for PRKACA Gene

    Alternative splice isoforms for PRKACA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKACA Gene

Proteomics data for PRKACA Gene at MOPED

Post-translational modifications for PRKACA Gene

  • Asn-3 is partially deaminated to Asp giving rise to 2 major isoelectric variants, called CB and CA respectively.
  • Autophosphorylated. Phosphorylation is enhanced by vitamin K(2). Phosphorylated on threonine and serine residues. Phosphorylation on Thr-198 is required for full activity.
  • Phosphorylated at Tyr-331 by activated receptor tyrosine kinases EGFR and PDGFR; this increases catalytic efficienncy.
  • Ubiquitination at Lys93
  • Modification sites at PhosphoSitePlus

Other Protein References for PRKACA Gene

Antibody Products

  • R&D Systems Antibodies for PRKACA (PKA C alpha)
  • R&D Systems Antibodies for PRKACA (PKA C alpha/beta)
  • Cell Signaling Technology (CST) Antibodies for PRKACA (PKACA)

Domains for PRKACA Gene

Graphical View of Domain Structure for InterPro Entry

P17612

UniProtKB/Swiss-Prot:

KAPCA_HUMAN :
  • P17612
Domain:
  • Contains 1 AGC-kinase C-terminal domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily.
genes like me logo Genes that share domains with PRKACA: view

Function for PRKACA Gene

Molecular function for PRKACA Gene

GENATLAS Biochemistry: protein kinase,cAMP-dependent,catalytic,alpha subunit
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation: Allosterically activated by various compounds, including ATP. Activated by cAMP; the nucleotide acts as a dynamic and allosteric activator by coupling the two lobes of apo PKA, enhancing the enzyme dynamics synchronously and priming it for catalysis. Inhibited by H89 (N-[2-[[3-(4-Bromophenyl)-2-propenyl]amino]ethyl]-5-isoquinolinesulfonamide), spiroindoline, azole-based inhibitors, (3s)-amino-aminomethylbenzamide analogs, ARC-1032 (6-{[(2S,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]formamido}-N-[(1R)-4-carbamimidamido-1-carbamoylbutyl]hexanamide), ARC-1034 (6-{[(2S,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]formamido}-N-[(1R)-4-carbamimidamido-1-{[(1R)-4-carbamimidamido-1-carbamoylbutyl]carbamoyl}butyl]hexanamide), ARC-582, ARC-902 (Adc-6-aminohexanoic acid-(D-Arg)(6)-NH(2)), ARC-1012 ((2R)-6-amino-2-(6-{[(2S,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]formamido}hexanamido)-N-(5-{[(1R)-4-carbamimidamido-1-{[(1R)-4-carbamimidamido-1-carbamoylbutyl]carbamoyl}butyl]carbamoyl}pentyl)hexanamide) and ARC-1039 (6-{[(2S,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]formamido}-N-[(1R)-1-[(5-{[(1R)-4-carbamimidamido-1-{[(1R)-4-carbamimidamido-1-carbamoylbutyl]carbamoyl}butyl]carbamoyl}pentyl)carbamoyl]ethyl]he xanamide).
UniProtKB/Swiss-Prot Function: Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP. Prevents the antiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated. RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activation by phosphorylation stimulates proteasome. Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding. Involved in embryonic development by down-regulating the Hedgehog (Hh) signaling pathway that determines embryo pattern formation and morphogenesis. Prevents meiosis resumption in prophase-arrested oocytes via CDC25B inactivation by phosphorylation. May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT). Phosphorylates APOBEC3G and AICDA. Isoform 2 phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation.

Enzyme Numbers (IUBMB) for PRKACA Gene

Gene Ontology (GO) - Molecular Function for PRKACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity --
GO:0004691 cAMP-dependent protein kinase activity NAS 2843813
GO:0004712 protein serine/threonine/tyrosine kinase activity IDA 22797923
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with PRKACA: view
genes like me logo Genes that share phenotypes with PRKACA: view

Animal Models for PRKACA Gene

MGI Knock Outs for PRKACA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRKACA

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for PRKACA Gene

Localization for PRKACA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKACA Gene

Cytoplasm. Cell membrane. Nucleus. Mitochondrion. Note=Translocates into the nucleus (monomeric catalytic subunit). The inactive holoenzyme is found in the cytoplasm. Distributed throughout the cytoplasm in meiotically incompetent oocytes. Associated to mitochondrion as meiotic competence is acquired. Aggregates around the germinal vesicles (GV) at the immature GV stage oocytes (By similarity). {ECO:0000250}.
Isoform 2: Cell projection, cilium, flagellum. Note=Expressed in the midpiece region of the sperm flagellum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRKACA Gene COMPARTMENTS Subcellular localization image for PRKACA gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PRKACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with PRKACA: view

Pathways for PRKACA Gene

SuperPathways for PRKACA Gene

Superpath Contained pathways
1 Ca-dependent events
2 Signaling by FGFR
3 Circadian entrainment
4 Regulation of PLK1 Activity at G2/M Transition
5 G-Beta Gamma Signaling
genes like me logo Genes that share pathways with PRKACA: view

PCR Array Products

Gene Ontology (GO) - Biological Process for PRKACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0001707 mesoderm formation IEA --
GO:0001843 neural tube closure IEA --
GO:0002027 regulation of heart rate TAS 23507255
genes like me logo Genes that share ontologies with PRKACA: view

Compounds for PRKACA Gene

(5) Tocris Compounds for PRKACA Gene

Compound Action Cas Number
cAMPS-Sp, triethylammonium salt Cell-permeable cAMP analog [93602-66-5]
PKI 14-22 amide, myristoylated Cell-permeable protein kinase A inhibitor [201422-03-9]
H 89 dihydrochloride Protein kinase A inhibitor [130964-39-5]
KT 5720 Selective protein kinase A inhibitor [108068-98-0]
PKA inhibitor fragment (6-22) amide Potent protein kinase A inhibitor [121932-06-7]

(3) HMDB Compounds for PRKACA Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Cyclic AMP
  • Cyclic AMP
60-92-4

(6) Novoseek inferred chemical compound relationships for PRKACA Gene

Compound -log(P) Hits PubMed IDs
ibmx 54.9 2
forskolin 49.7 2
cyclic amp 36.4 1
dexamethasone 17.4 1
atp 12.1 2
genes like me logo Genes that share compounds with PRKACA: view

Transcripts for PRKACA Gene

Unigene Clusters for PRKACA Gene

Protein kinase, cAMP-dependent, catalytic, alpha:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRKACA

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRKACA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - -
SP2: - - - -
SP3: -
SP4: - -
SP5:

Relevant External Links for PRKACA Gene

GeneLoc Exon Structure for
PRKACA
ECgene alternative splicing isoforms for
PRKACA

Expression for PRKACA Gene

mRNA expression in normal human tissues for PRKACA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRKACA Gene

SOURCE GeneReport for Unigene cluster for PRKACA Gene Hs.631630

mRNA Expression by UniProt/SwissProt for PRKACA Gene

P17612-KAPCA_HUMAN
Tissue specificity: Isoform 1 is ubiquitous. Isoform 2 is sperm-specific and is enriched in pachytene spermatocytes but is not detected in round spermatids.
genes like me logo Genes that share expressions with PRKACA: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PRKACA Gene

Orthologs for PRKACA Gene

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

Orthologs for PRKACA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRKACA 35
  • 99.8 (n)
  • 100 (a)
PRKACA 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRKACA 35
  • 93.16 (n)
  • 99.43 (a)
PRKACA 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKACA 35
  • 92.76 (n)
  • 99.14 (a)
PRKACA 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkaca 35
  • 91.26 (n)
  • 98.01 (a)
Prkaca 16
Prkaca 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Prkaca 35
  • 90.98 (n)
  • 98.01 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia prkaca 35
  • 77.97 (n)
  • 93.45 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1053 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01071153.1 36
  • 10 (a)
ManyToMany
prkacaa 36
  • 94 (a)
ManyToMany
prkacab 35
  • 78.44 (n)
  • 89.46 (a)
prkacab 36
  • 89 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Pka-C2 36
  • 44 (a)
ManyToMany
CG12069 37
  • 50 (a)
Pka-C3 37
  • 56 (a)
Pka-C1 37
  • 82 (a)
Pka-C2 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea kin-1 36
  • 46 (a)
OneToMany
F47F2.1a 37
  • 52 (a)
F47F2.1b 37
  • 51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL090W 35
  • 55.8 (n)
  • 50.8 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TPK1 36
  • 41 (a)
ManyToMany
TPK1 38
TPK2 35
  • 53.38 (n)
  • 52.73 (a)
TPK2 36
  • 43 (a)
ManyToMany
TPK3 36
  • 39 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03190g 35
  • 51.59 (n)
  • 48.99 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pka1 35
  • 52.31 (n)
  • 49.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
ManyToMany
Species with no ortholog for PRKACA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRKACA Gene

ENSEMBL:
Gene Tree for PRKACA (if available)
TreeFam:
Gene Tree for PRKACA (if available)

Paralogs for PRKACA Gene

Paralogs for PRKACA Gene

genes like me logo Genes that share paralogs with PRKACA: view

Variants for PRKACA Gene

Sequence variations from dbSNP and Humsavar for PRKACA Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1368 -- 14,096,447(+) GCTGG(C/G)ATTAC intron-variant
rs15247 -- 14,091,875(-) TTCAT(A/C)CCCGT utr-variant-3-prime
rs17463 -- 14,097,296(-) TCCTA(C/T)TCCCT intron-variant
rs729372 -- 14,117,116(-) GACCC(A/C)GACCC intron-variant
rs3729858 -- 14,093,715(-) AAGCG(C/G)TTTGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PRKACA Gene

Variant ID Type Subtype PubMed ID
dgv3739n71 CNV Loss 21882294
dgv3741n71 CNV Loss 21882294
nsv833761 CNV Loss 17160897
nsv828452 CNV Loss 20364138
nsv828454 CNV Gain 20364138
dgv49n68 CNV Loss 17160897
dgv3744n71 CNV Loss 21882294
nsv911117 CNV Loss 21882294
nsv911119 CNV Loss 21882294
nsv828455 CNV Gain 20364138
esv2677290 CNV Deletion 23128226
nsv911120 CNV Loss 21882294
esv22154 CNV Gain 19812545

Relevant External Links for PRKACA Gene

HapMap Linkage Disequilibrium report
PRKACA
Human Gene Mutation Database (HGMD)
PRKACA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKACA Gene

Disorders for PRKACA Gene

UniProtKB/Swiss-Prot

KAPCA_HUMAN
  • Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830]: 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. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269 PubMed:24571724, ECO:0000269 PubMed:24700472, ECO:0000269 PubMed:24747643, ECO:0000269 PubMed:24855271}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for PRKACA Gene

Disease -log(P) Hits PubMed IDs
pituitary tumors 39.6 1

Relevant External Links for PRKACA

Genetic Association Database (GAD)
PRKACA
Human Genome Epidemiology (HuGE) Navigator
PRKACA
genes like me logo Genes that share disorders with PRKACA: view

Publications for PRKACA Gene

  1. DNA binding of repressor nuclear factor-kappaB p50/p50 depends on phosphorylation of Ser337 by the protein kinase A catalytic subunit. (PMID: 15642694) Guan H. … Ricciardi R.P. (J. Biol. Chem. 2005) 3 4 23
  2. Expression of a nonmyristylated variant of the catalytic subunit of protein kinase A during male germ-cell development. (PMID: 10841548) Desseyn J.-L. … McKnight G.S. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  3. A novel isoform of human cyclic 3',5'-adenosine monophosphate-dependent protein kinase, c alpha-s, localizes to sperm midpiece. (PMID: 10906071) Reinton N. … SkAYlhegg B.S. (Biol. Reprod. 2000) 3 4
  4. The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. (PMID: 19383776) Louiset E. … Lefebvre H. (J. Clin. Endocrinol. Metab. 2009) 3 23
  5. A cDNA clone encoding human cAMP-dependent protein kinase catalytic subunit C alpha. (PMID: 2843813) Maldonado F. … Hanks S.K. (Nucleic Acids Res. 1988) 3 4

Products for PRKACA Gene

Sources for PRKACA Gene

Back to Top

Content