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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Endocrine resistance PKA activation
MAPK signaling pathway PKA activation in glucagon signalling
Ras signaling pathway DARPP-32 events
Calcium signaling pathway Regulation of PLK1 Activity at G2/M Transition
cAMP signaling pathway Loss of Nlp from mitotic centrosomes
Chemokine signaling pathway Recruitment of mitotic centrosome proteins and complexes
Hormone signaling Loss of proteins required for interphase microtubule organization from the centrosome
Oocyte meiosis Recruitment of NuMA to mitotic centrosomes
Autophagy - animal Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Longevity regulating pathway Rap1 signalling
Longevity regulating pathway - multiple species Regulation of insulin secretion
Adrenergic signaling in cardiomyocytes Vasopressin regulates renal water homeostasis via Aquaporins
Vascular smooth muscle contraction VEGFA-VEGFR2 Pathway
Wnt signaling pathway CREB1 phosphorylation through the activation of Adenylate Cyclase
Hedgehog signaling pathway Interleukin-3, Interleukin-5 and GM-CSF signaling
Apelin signaling pathway Ion homeostasis
Tight junction GLI3 is processed to GLI3R by the proteasome
Gap junction Hedgehog 'off' state
Platelet activation Anchoring of the basal body to the plasma membrane
Circadian entrainment CD209 (DC-SIGN) signaling
Thermogenesis MAPK6/MAPK4 signaling
Long-term potentiation RET signaling
Retrograde endocannabinoid signaling AURKA Activation by TPX2
Glutamatergic synapse HDL assembly
Cholinergic synapse ADORA2B mediated anti-inflammatory cytokines production
Serotonergic synapse FCGR3A-mediated IL10 synthesis
GABAergic synapse Factors involved in megakaryocyte development and platelet production
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACTH-independent adrenal Cushing syndrome, somatic Likely pathogenic; Pathogenic rs386352352 RCV002508139
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenal cortex neoplasm Likely pathogenic; Pathogenic rs386352352 RCV006253780
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardioacrofacial dysplasia 1 Likely pathogenic; Pathogenic rs148280386 RCV001271119
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pigmented nodular adrenocortical disease, primary, 4 Pathogenic; Likely pathogenic rs724160013, rs386352352 RCV000149856
RCV000119834
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (11)
Phenotype Name Clinical Significance Source Reference Evidence Score
CHOLANGIOCARCINOMA — CTD 26258846
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ELLIS VAN CREVELD SYNDROME — Orphanet 33058759
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations