Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5573
Gene name Gene Name - the full gene name approved by the HGNC.
Protein kinase cAMP-dependent type I regulatory subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRKAR1A
Synonyms (NCBI Gene) Gene synonyms aliases
ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, Prkar1alpha, TSE1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACRDYS1, CNC1, PPNAD1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001707 Process Mesoderm formation IEA
GO:0001772 Component Immunological synapse IDA 17911601
GO:0003091 Process Renal water homeostasis TAS
GO:0004862 Function CAMP-dependent protein kinase inhibitor activity IDA 21812984
GO:0005515 Function Protein binding IPI 11414803, 15655353, 16189514, 16387847, 16491121, 17911601, 19060904, 20195357, 20562859, 23455922, 24605759, 24700472, 24855271, 25477193, 28514442, 31515488, 31980649, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
188830 9388 ENSG00000108946
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Acrodysostosis with or without hormone resistance ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE, ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE rs387906692, rs387906694, rs387906695, rs397514464, rs397514465, rs397514466, rs397514467, rs397514468, rs387906744, rs397514469, rs397515433, rs587777188, rs886041228, rs1555815121, rs1600486197 22723333, 27825928, 22464252, 22464250, 23043190, 26405036, 23425300, 21651393
Adrenocortical carcinoma Malignant neoplasm of adrenal cortex, Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664
View all (30 more)
Adrenocortical tumor ADRENOCORTICAL TUMOR, SOMATIC rs587776774, rs137853227
Amelogenesis imperfecta Amelogenesis imperfecta nephrocalcinosis rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489
View all (70 more)
Unknown
Disease term Disease name Evidence References Source
Acrodysostosis Acrodysostosis 27825928, 21651393, 22464250, 22464252 ClinVar
Congestive heart failure Congestive heart failure ClinVar
Mental depression Depressive disorder ClinVar
Specific learning disorder Specific learning disability ClinVar
Associations from Text Mining
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