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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
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
Acrodysostosis 1 with or without hormone resistance Pathogenic; Likely pathogenic rs886041228, rs281864801, rs387906692, rs387906694, rs387906695, rs1555815121, rs1600486197 RCV003469209
RCV002496345
RCV000022791
RCV000022793
RCV000022794
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenocortical tumor, somatic Pathogenic rs587776774 RCV000013509
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Likely pathogenic rs1555815121 RCV005646775
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia 10 Likely pathogenic rs2143321666 RCV001537873
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
Acrodysostosis Likely benign; Uncertain significance; Benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA NEPHROCALCINOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma HPO_DG
★☆☆☆☆
Found in Text Mining only
Acrodysostosis Acrodysostosis BEFREE 21651393, 22464250, 22464252, 22723333, 22815067, 23033274, 23043190, 23425300, 25075981, 26405036, 26763073, 27589370, 29280743, 30006632, 31041856
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis Acrodysostosis ORPHANET_DG 21651393, 22464250, 22464252
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis Acrodysostosis Pubtator 21651393, 22464250, 22464252, 25075981, 26405036, 26763073, 27825928, 30006632, 31041856, 32783359 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis Acrodysostosis Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis Acrodysostosis CTD_human_DG 27825928
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Acrodysostosis Acrodysostosis GENOMICS_ENGLAND_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE Acrodysostosis With Or Without Hormone Resistance UNIPROT_DG 21651393, 22464250, 22464252, 22723333, 23043190, 23425300, 26405036
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE Acrodysostosis With Or Without Hormone Resistance GENOMICS_ENGLAND_DG 22464250
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE Acrodysostosis With Or Without Hormone Resistance CLINVAR_DG 22464252, 23043190, 23425300
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)