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Aliases for PRKAR1A Gene

Aliases for PRKAR1A Gene

  • Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha 2 3
  • Protein Kinase, CAMP-Dependent, Regulatory Subunit Type I Alpha 2 3 5
  • Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha 2 3
  • Tissue-Specific Extinguisher 1 3 4
  • Carney Complex Type 1 2 3
  • PRKAR1 3 4
  • TSE1 3 4
  • PKR1 3 4
  • CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain 3
  • CAMP-Dependent Protein Kinase Regulatory Subunit RIalpha 3
  • Protein Kinase A Type 1a Regulatory Subunit 3
  • Tissue Specific Extinguisher 1 2
  • ACRDYS1 3
  • PPNAD1 3
  • ADOHR 3
  • CNC1 3
  • CAR 3
  • CNC 3

External Ids for PRKAR1A Gene

Previous HGNC Symbols for PRKAR1A Gene

  • PRKAR1
  • TSE1

Previous GeneCards Identifiers for PRKAR1A Gene

  • GC17P066304
  • GC17P069468
  • GC17P066972
  • GC17P067106
  • GC17P067107
  • GC17P064019
  • GC17P066508
  • GC17P061893
  • GC17P068511

Summaries for PRKAR1A Gene

Entrez Gene Summary for PRKAR1A 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 holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

GeneCards Summary for PRKAR1A Gene

PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha) is a Protein Coding gene. Diseases associated with PRKAR1A include carney complex, type 1 and acrodysostosis 1, with or without hormone resistance. Among its related pathways are Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include ubiquitin protein ligase binding and protein kinase A catalytic subunit binding. An important paralog of this gene is PRKAR2B.

UniProtKB/Swiss-Prot for PRKAR1A Gene

  • Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.

Tocris Summary for PRKAR1A Gene

  • Protein kinase A (PKA, aka cAMP-dependent protein kinase) is involved in the regulation of lipid and glucose metabolism and is a component of the signal transduction mechanism of certain GPCRs. PKA is composed of two regulatory subunits and two catalytic subunits.

Gene Wiki entry for PRKAR1A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKAR1A Gene

Genomics for PRKAR1A Gene

Regulatory Elements for PRKAR1A Gene

Transcription factor binding sites by QIAGEN in the PRKAR1A gene promoter:

Genomic Location for PRKAR1A Gene

Chromosome:
17
Start:
68,413,623 bp from pter
End:
68,551,319 bp from pter
Size:
137,697 bases
Orientation:
Plus strand

Genomic View for PRKAR1A Gene

Genes around PRKAR1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKAR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKAR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKAR1A Gene

Proteins for PRKAR1A Gene

  • Protein details for PRKAR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10644-KAP0_HUMAN
    Recommended name:
    cAMP-dependent protein kinase type I-alpha regulatory subunit
    Protein Accession:
    P10644
    Secondary Accessions:
    • K7ER48
    • Q567S7

    Protein attributes for PRKAR1A Gene

    Size:
    381 amino acids
    Molecular mass:
    42982 Da
    Quaternary structure:
    • The inactive holoenzyme is composed of two regulatory chains and two catalytic chains. Activation by cAMP releases the two active catalytic monomers and the regulatory dimer. PRKAR1A also interacts with RFC2; the complex may be involved in cell survival. Interacts with AKAP4. Interacts with RARA; the interaction occurs in the presence of cAMP or FSH and regulates RARA transcriptional activity. Interacts with the phosphorylated form of PJA2. Interacts with CBFA2T3 (By similarity). Interacts with PRKX; regulates this cAMP-dependent protein kinase. Interacts with C2orf88/smAKAP; this interaction may target PRKAR1A to the plasma membrane. Interacts with AICDA.

    Alternative splice isoforms for PRKAR1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKAR1A Gene

Proteomics data for PRKAR1A Gene at MOPED

Post-translational modifications for PRKAR1A Gene

  • The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity.
  • Ubiquitination at Lys 24, Lys 63, Lys 92, Lys 134, Lys 222, Lys 252, and Lys 261
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PRKAR1A Gene

Domains & Families for PRKAR1A Gene

Graphical View of Domain Structure for InterPro Entry

P10644

UniProtKB/Swiss-Prot:

KAP0_HUMAN :
  • Contains 2 cyclic nucleotide-binding domains.
  • Belongs to the cAMP-dependent kinase regulatory chain family.
Domain:
  • Contains 2 cyclic nucleotide-binding domains.
Family:
  • Belongs to the cAMP-dependent kinase regulatory chain family.
genes like me logo Genes that share domains with PRKAR1A: view

Function for PRKAR1A Gene

Molecular function for PRKAR1A Gene

GENATLAS Biochemistry:
protein kinase,cAMP-dependent,regulatory,type I,alpha subunit,expressed at higher levels in pancreatic beta cells
UniProtKB/Swiss-Prot Function:
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.
genes like me logo Genes that share phenotypes with PRKAR1A: view

Human Phenotype Ontology for PRKAR1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKAR1A Gene

MGI Knock Outs for PRKAR1A:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PRKAR1A Gene

Localization for PRKAR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKAR1A Gene

Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRKAR1A Gene COMPARTMENTS Subcellular localization image for PRKAR1A gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PRKAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0031588 nucleotide-activated protein kinase complex IDA 21812984
GO:0097546 ciliary base TAS --
genes like me logo Genes that share ontologies with PRKAR1A: view

Pathways & Interactions for PRKAR1A Gene

SuperPathways for PRKAR1A Gene

Superpath Contained pathways
1 DAG and IP3 signaling
2 Interleukin-3, 5 and GM-CSF signaling
3 Aquaporin-mediated transport
4 G-Beta Gamma Signaling
5 Sweet Taste Signaling
genes like me logo Genes that share pathways with PRKAR1A: view

SIGNOR curated interactions for PRKAR1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PRKAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IEA --
GO:0003091 renal water homeostasis TAS --
GO:0006112 energy reserve metabolic process TAS --
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0006833 water transport TAS --
genes like me logo Genes that share ontologies with PRKAR1A: view

Drugs & Compounds for PRKAR1A Gene

(16) Drugs for PRKAR1A Gene - From: Novoseek, DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma Target 0
Cyclic GMP Experimental Pharma Target 0
Sp-Adenosine-3',5'-Cyclic-Monophosphorothioate Experimental Pharma Target 0
GEM-231 Investigational Pharma Target 0
KT 5720 Pharma Positive, Allosteric regulator Selective protein kinase A inhibitor 0

(10) Additional Compounds for PRKAR1A Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Bromo-cAMP, sodium salt
76939-46-3
cAMPS-Rp, triethylammonium salt
151837-09-1
cAMPS-Sp, triethylammonium salt
93602-66-5
cGMP Dependent Kinase Inhibitor Peptide
82801-73-8
genes like me logo Genes that share compounds with PRKAR1A: view

Transcripts for PRKAR1A Gene

Unigene Clusters for PRKAR1A Gene

Protein kinase, cAMP-dependent, regulatory, type I, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRKAR1A Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h · 2i ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^
SP1: - - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4:
SP5: - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - -
SP11: - - - - - - - - - -
SP12: - - - - -
SP13:
SP14: - - - - - - - - - - -
SP15: - - - - - - - - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - -
SP18: - - - - - -
SP19: - - - -
SP20:
SP21: - - -

ExUns: 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: -
SP7: - -
SP8: - -
SP9: - -
SP10: - -
SP11: - -
SP12: - -
SP13:
SP14: -
SP15: -
SP16: - - - - - - - -
SP17:
SP18:
SP19:
SP20: -
SP21:

Relevant External Links for PRKAR1A Gene

GeneLoc Exon Structure for
PRKAR1A
ECgene alternative splicing isoforms for
PRKAR1A

Expression for PRKAR1A Gene

mRNA expression in normal human tissues for PRKAR1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRKAR1A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRKAR1A Gene



SOURCE GeneReport for Unigene cluster for PRKAR1A Gene Hs.280342

mRNA Expression by UniProt/SwissProt for PRKAR1A Gene

P10644-KAP0_HUMAN
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.
genes like me logo Genes that share expression patterns with PRKAR1A: view

Protein tissue co-expression partners for PRKAR1A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PRKAR1A Gene

Orthologs for PRKAR1A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRKAR1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRKAR1A 35
  • 99.48 (n)
  • 100 (a)
PRKAR1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRKAR1A 36
  • 98 (a)
OneToOne
PRKAR1A 35
  • 85.88 (n)
  • 97.89 (a)
dog
(Canis familiaris)
Mammalia PRKAR1A 35
  • 92.56 (n)
  • 97.9 (a)
PRKAR1A 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prkar1a 16
Prkar1a 36
  • 97 (a)
OneToOne
Prkar1a 35
  • 88.1 (n)
  • 96.85 (a)
oppossum
(Monodelphis domestica)
Mammalia PRKAR1A 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKAR1A 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkar1a 35
  • 88.36 (n)
  • 97.38 (a)
chicken
(Gallus gallus)
Aves PRKAR1A 36
  • 92 (a)
OneToOne
PRKAR1A 35
  • 82.41 (n)
  • 92.65 (a)
lizard
(Anolis carolinensis)
Reptilia PRKAR1A 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3502 35
tropical clawed frog
(Silurana tropicalis)
Amphibia prkar1a 35
  • 77.81 (n)
  • 92.63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1202 35
zebrafish
(Danio rerio)
Actinopterygii prkar1aa 36
  • 92 (a)
OneToMany
prkar1ab 36
  • 92 (a)
OneToMany
prkar1ab 35
  • 77.75 (n)
  • 92.08 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006448 35
  • 64.05 (n)
  • 75.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pka-R1 37
  • 72 (a)
Pka-R1 35
  • 64.1 (n)
  • 74.45 (a)
Pka-R1 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kin-2 36
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCY1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4544 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8266 36
  • 60 (a)
OneToMany
Species with no ortholog for PRKAR1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRKAR1A Gene

ENSEMBL:
Gene Tree for PRKAR1A (if available)
TreeFam:
Gene Tree for PRKAR1A (if available)

Paralogs for PRKAR1A Gene

Paralogs for PRKAR1A Gene

Pseudogenes.org Pseudogenes for PRKAR1A Gene

genes like me logo Genes that share paralogs with PRKAR1A: view

Variants for PRKAR1A Gene

Sequence variations from dbSNP and Humsavar for PRKAR1A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_046894 Carney complex 1 (CNC1)
VAR_046895 Carney complex 1 (CNC1)
VAR_046896 Carney complex 1 (CNC1)
VAR_046897 Carney complex 1 (CNC1)
VAR_046898 Carney complex 1 (CNC1)

Structural Variations from Database of Genomic Variants (DGV) for PRKAR1A Gene

Variant ID Type Subtype PubMed ID
nsv833523 CNV Gain 17160897
nsv833524 CNV Gain 17160897

Variation tolerance for PRKAR1A Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRKAR1A Gene

HapMap Linkage Disequilibrium report
PRKAR1A
Human Gene Mutation Database (HGMD)
PRKAR1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKAR1A Gene

Disorders for PRKAR1A Gene

MalaCards: The human disease database

(33) MalaCards diseases for PRKAR1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carney complex, type 1
  • carney complex
acrodysostosis 1, with or without hormone resistance
  • acrodysostosis
myxoma, intracardiac
  • atrial myxoma, familial
pigmented nodular adrenocortical disease, primary, 1
  • primary pigmented nodular adrenocortical disease 1
primary pigmented nodular adrenocortical disease
  • ppnad
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KAP0_HUMAN
  • Carney complex 1 (CNC1) [MIM:160980]: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. {ECO:0000269 PubMed:15371594, ECO:0000269 PubMed:18241045, ECO:0000269 PubMed:22785148, ECO:0000269 PubMed:23323113, ECO:0000269 PubMed:26405036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intracardiac myxoma (INTMYX) [MIM:255960]: Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Primary pigmented nodular adrenocortical disease 1 (PPNAD1) [MIM:610489]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. {ECO:0000269 PubMed:12213893}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]: A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. {ECO:0000269 PubMed:21651393, ECO:0000269 PubMed:22464250, ECO:0000269 PubMed:22464252, ECO:0000269 PubMed:22723333, ECO:0000269 PubMed:23043190, ECO:0000269 PubMed:23425300, ECO:0000269 PubMed:26405036}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRKAR1A

Genetic Association Database (GAD)
PRKAR1A
Human Genome Epidemiology (HuGE) Navigator
PRKAR1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRKAR1A
genes like me logo Genes that share disorders with PRKAR1A: view

No data available for Genatlas for PRKAR1A Gene

Publications for PRKAR1A Gene

  1. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. (PMID: 19293268) Bertherat J. … Stratakis C.A. (J. Clin. Endocrinol. Metab. 2009) 3 23 48 67
  2. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. (PMID: 19915019) Pereira A.M. … Stratakis C.A. (J. Clin. Endocrinol. Metab. 2010) 3 23
  3. Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. (PMID: 20190548) Storr H.L. … Main K.M. (Horm Res Paediatr 2010) 3 23
  4. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. (PMID: 20358582) Horvath A. … Stratakis C.A. (Hum. Mutat. 2010) 3 23
  5. Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. (PMID: 19429701) Bimpaki E.I. … Stratakis C.A. (Eur. J. Endocrinol. 2009) 3 23

Products for PRKAR1A Gene

Sources for PRKAR1A Gene

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