Gene Gene information from NCBI Gene database.
Entrez ID 5573
Gene name Protein kinase cAMP-dependent type I regulatory subunit alpha
Gene symbol PRKAR1A
Synonyms (NCBI Gene)
ACRDYS1ADOHRCARCNCCNC1PKR1PPNAD1PRKAR1Prkar1alphaTSE1
Chromosome 17
Chromosome location 17q24.2
Summary 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 holo
SNPs SNP information provided by dbSNP.
54
SNP ID Visualize variation Clinical significance Consequence
rs141913727 C>G,T Pathogenic, uncertain-significance, not-provided Coding sequence variant, stop gained, missense variant
rs199801675 C>T Uncertain-significance, likely-benign, likely-pathogenic Missense variant, coding sequence variant
rs201774040 G>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs281864779 A>G Pathogenic Initiator codon variant, missense variant
rs281864780 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1106
miRTarBase ID miRNA Experiments Reference
MIRT020712 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT024953 hsa-miR-215-5p Microarray 19074876
MIRT026380 hsa-miR-192-5p Microarray 19074876
MIRT031552 hsa-miR-16-5p Proteomics 18668040
MIRT050285 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001707 Process Mesoderm formation IEA
GO:0001772 Component Immunological synapse IDA 17911601
GO:0004862 Function CAMP-dependent protein kinase inhibitor activity IBA
GO:0004862 Function CAMP-dependent protein kinase inhibitor activity IDA 21812984
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188830 9388 ENSG00000108946
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10644
Protein name cAMP-dependent protein kinase type I-alpha regulatory subunit (Tissue-specific extinguisher 1) (TSE1)
Protein function Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.
PDB 5KJX , 5KJY , 5KJZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02197 RIIa 25 62 Regulatory subunit of type II PKA R-subunit Domain
PF00027 cNMP_binding 155 238 Cyclic nucleotide-binding domain Domain
PF00027 cNMP_binding 273 360 Cyclic nucleotide-binding domain Domain
Tissue specificity 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.
Sequence
MESGSTAASEEARSLRECELYVQKHNIQALLKDSIVQLCTARPERPMAFLREYFERLEKE
EA
KQIQNLQKAGTRTDSREDEISPPPPNPVVKGRRRRGAISAEVYTEEDAASYVRKVIPK
DYKTMAALAKAIEKNVLFSHLDDNERSDIFDAMFSVSFIAGETVIQQGDEGDNFYVIDQG
ETDVYVNNEWATSVGEGGSFGELALIYGTPRAATVKAKTNVKLWGIDRDSYRRILMGS
TL
RKRKMYEEFLSKVSILESLDKWERLTVADALEPVQFEDGQKIVVQGEPGDEFFIILEGSA
AVLQRRSENEEFVEVGRLGPSDYFGEIALLMNRPRAATVVARGPLKCVKLDRPRFERVLG

PCSDILKRNIQQYNSFVSLSV
Sequence length 381
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Insulin signaling pathway   PKA activation
PKA activation in glucagon signalling
DARPP-32 events
Vasopressin regulates renal water homeostasis via Aquaporins
CREB1 phosphorylation through the activation of Adenylate Cyclase
Hedgehog 'off' state
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.
1629
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acrodysostosis 1 with or without hormone resistance Pathogenic; Likely pathogenic rs886041228, rs281864801, rs387906692, rs387906694, rs387906695, rs1555815121, rs1600486197 RCV003469209
RCV002496345
RCV000022791
RCV000022793
RCV000022794
RCV000497832
RCV000791348
Adrenocortical tumor, somatic Pathogenic rs587776774 RCV000013509
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Likely pathogenic rs1555815121 RCV005646775
Arrhythmogenic right ventricular dysplasia 10 Likely pathogenic rs2143321666 RCV001537873
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acrodysostosis Likely benign; Uncertain significance; Benign rs62087489, rs28730842, rs11540571, rs398041821, rs144299673, rs8082254, rs886053312, rs9925, rs138320066, rs6958, rs886053304, rs201146882, rs8905, rs7977, rs201999343
View all (2 more)
RCV000368524
RCV000406657
RCV000360526
RCV000391637
RCV000316519
RCV000340323
RCV000312444
RCV000319592
RCV000349627
RCV000329581
RCV000347724
RCV000325186
RCV000295699
RCV000313762
RCV000384475
RCV000295909
RCV000391534
RCV000315884
Colorectal cancer Uncertain significance rs1329426125 RCV005931988
Hereditary cancer Conflicting classifications of pathogenicity rs200069356 RCV004701317
Lung cancer Benign rs562094333 RCV005899517
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrodysostosis Associate 21651393, 22464250, 22464252, 25075981, 26405036, 26763073, 27825928, 30006632, 31041856, 32783359
Acromegaly Associate 19293268, 33939912, 36193716
Acth Independent Macronodular Adrenal Hyperplasia Associate 32638579
Adenocarcinoma Associate 35322195
Adenoma Associate 15761655
Adenoma Oxyphilic Associate 19265501
Adrenal Cortex Diseases Associate 22259056
Adrenal Cortex Neoplasms Associate 22112814, 22785148
Adrenal Gland Diseases Associate 22112814, 22259056, 33849881
Adrenal Gland Neoplasms Associate 32895490