Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5566
Gene name Gene Name - the full gene name approved by the HGNC.
Protein kinase cAMP-activated catalytic subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRKACA
Synonyms (NCBI Gene) Gene synonyms aliases
CAFD1, PKACA, PPNAD4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CAFD1, PPNAD4
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.12
Summary Summary of gene provided in NCBI Entrez 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 dime
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000287 Function Magnesium ion binding IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0001707 Process Mesoderm formation IEA
GO:0001843 Process Neural tube closure IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601639 9380 ENSG00000072062
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Pigmented Nodular Adrenocortical Disease pigmented nodular adrenocortical disease, primary, 4 GenCC
Ellis-Van Creveld Syndrome Ellis-van Creveld syndrome GenCC
Associations from Text Mining
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