Gene Gene information from NCBI Gene database.
Entrez ID 5566
Gene name Protein kinase cAMP-activated catalytic subunit alpha
Gene symbol PRKACA
Synonyms (NCBI Gene)
CAFD1PKACAPPNAD4
Chromosome 19
Chromosome location 19p13.12
Summary 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 dime
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs386352352 A>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs724160013 ->CAC Pathogenic Coding sequence variant, inframe insertion
miRNA miRNA information provided by mirtarbase database.
391
miRTarBase ID miRNA Experiments Reference
MIRT030635 hsa-miR-22-3p Sequencing 20371350
MIRT044041 hsa-miR-365a-3p CLASH 23622248
MIRT043455 hsa-miR-331-3p CLASH 23622248
MIRT043455 hsa-miR-331-3p CLASH 23622248
MIRT042660 hsa-miR-196b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
127
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0001707 Process Mesoderm formation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601639 9380 ENSG00000072062
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17612
Protein name cAMP-dependent protein kinase catalytic subunit alpha (PKA C-alpha) (EC 2.7.11.11)
Protein function Phosphorylates a large number of substrates in the cytoplasm and the nucleus (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, PubMed:19949837, PubMed:20356841, PubMed:2108549
PDB 2GU8 , 3AGL , 3AGM , 3AMA , 3AMB , 3L9L , 3L9M , 3L9N , 3MVJ , 3NX8 , 3OOG , 3OVV , 3OWP , 3OXT , 3P0M , 3POO , 3VQH , 4AE6 , 4AE9 , 4UJ1 , 4UJ2 , 4UJ9 , 4UJA , 4UJB , 4WB5 , 4WB6 , 4WB7 , 4WB8 , 5BX6 , 5BX7 , 5IZF , 5IZJ , 5J5X , 5N23 , 5UZK , 6BYR , 6BYS , 6C0U , 6FRX , 6NO7 , 6QJ7 , 6WJF , 6WJG , 7Y1G , 8FE2 , 8FE5 , 8FEC , 8X5L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 44 298 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is ubiquitous. Isoform 2 is sperm-specific and is enriched in pachytene spermatocytes but is not detected in round spermatids. {ECO:0000269|PubMed:10906071, ECO:0000269|PubMed:21812984}.
Sequence
Sequence length 351
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
MAPK signaling pathway
Ras signaling pathway
Calcium signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Hormone signaling
Oocyte meiosis
Autophagy - animal
Longevity regulating pathway
Longevity regulating pathway - multiple species
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Wnt signaling pathway
Hedgehog signaling pathway
Apelin signaling pathway
Tight junction
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Olfactory transduction
Taste transduction
Inflammatory mediator regulation of TRP channels
Insulin signaling pathway
Insulin secretion
GnRH signaling pathway
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Glucagon signaling pathway
Regulation of lipolysis in adipocytes
Renin secretion
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Growth hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Vasopressin-regulated water reabsorption
Salivary secretion
Gastric acid secretion
Bile secretion
Parkinson disease
Prion disease
Cocaine addiction
Amphetamine addiction
Morphine addiction
Alcoholism
Vibrio cholerae infection
Amoebiasis
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
Chemical carcinogenesis - receptor activation
Dilated cardiomyopathy
  PKA activation
PKA activation in glucagon signalling
DARPP-32 events
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Rap1 signalling
Regulation of insulin secretion
Vasopressin regulates renal water homeostasis via Aquaporins
VEGFA-VEGFR2 Pathway
CREB1 phosphorylation through the activation of Adenylate Cyclase
Interleukin-3, Interleukin-5 and GM-CSF signaling
Ion homeostasis
GLI3 is processed to GLI3R by the proteasome
Hedgehog 'off' state
Anchoring of the basal body to the plasma membrane
CD209 (DC-SIGN) signaling
MAPK6/MAPK4 signaling
RET signaling
AURKA Activation by TPX2
HDL assembly
ADORA2B mediated anti-inflammatory cytokines production
FCGR3A-mediated IL10 synthesis
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACTH-independent adrenal Cushing syndrome, somatic Likely pathogenic; Pathogenic rs386352352 RCV002508139
Adrenal cortex neoplasm Likely pathogenic; Pathogenic rs386352352 RCV006253780
Cardioacrofacial dysplasia 1 Likely pathogenic; Pathogenic rs148280386 RCV001271119
Pigmented nodular adrenocortical disease, primary, 4 Pathogenic; Likely pathogenic rs724160013, rs386352352 RCV000149856
RCV000119834
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Uncertain significance rs1977645307 RCV001780065
PRKACA-related disorder Uncertain significance; Likely benign; Benign rs1257181388, rs776566422, rs770568845, rs41296254, rs368124083, rs775474906, rs41296252, rs200209462, rs776568028, rs137911238 RCV003397459
RCV003919652
RCV003929412
RCV003939752
RCV003949446
RCV003958916
RCV003922318
RCV003946962
RCV003978025
RCV003960495
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 25069672, 26701869, 28894201, 34520814, 34534321, 34852451, 35216289, 35675123
Adenocarcinoma Associate 35322195
Adenoma Associate 24571724, 25449630, 34852451
Adrenal Cortex Neoplasms Associate 25449630
Adrenal Gland Neoplasms Associate 24747643, 32895490
Adrenocortical Adenoma Associate 24571724, 25069672, 26701869, 26743443, 27165862, 27606678, 31489371, 34224748, 35399924
Adrenocortical Carcinoma Associate 32875319
Angina Stable Associate 32154962
Aphakia congenital primary Associate 25069672
Bile Duct Diseases Associate 31678302