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Aliases for PRKAR1A Gene

Aliases for PRKAR1A Gene

  • Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha 2 3 5
  • Protein Kinase, CAMP-Dependent, Regulatory Subunit Type I Alpha 2 3
  • 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 Subunit 3
  • 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 Myxoma, Intracardiac and Acrodysostosis 1, With Or Without Hormone Resistance. Among its related pathways are CCR5 Pathway in Macrophages and Aquaporin-mediated transport. 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 PRKAR1B.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKAR1A Gene

Genomics for PRKAR1A Gene

Regulatory Elements for PRKAR1A Gene

Enhancers for PRKAR1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G068497 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17 +84.8 84849 2.3 HDGF PKNOX1 ARNT YY1 TCF12 ZNF766 ZNF143 ZNF207 FOS JUNB PRKAR1A WIPI1 SLC16A6 GC17P068532
GH17G068508 1.8 FANTOM5 ENCODE dbSUPER 16.5 +98.7 98730 6.9 MLX ZFP64 DMAP1 FEZF1 YY1 ZNF416 ZNF548 ZNF263 SP3 NFYC NOL11 PRKAR1A WIPI1 SLC16A6 GC17P068532
GH17G068459 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +48.2 48200 5.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 PRKAR1A MIR635 WIPI1 GC17P068532
GH17G068454 1.8 FANTOM5 ENCODE dbSUPER 13.2 +42.8 42782 4.6 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B DMAP1 NOL11 LOC100418928 ENSG00000267731 PRKAR1A WIPI1 LINC01482 SLC16A6 MIR635
GH17G068473 1.5 Ensembl ENCODE dbSUPER 15.6 +60.8 60820 1.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS NOL11 PRKAR1A ENSG00000267731 SNRPGP4 LOC100418928 MIR635 WIPI1 GC17P068532
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRKAR1A on UCSC Golden Path with GeneCards custom track

Promoters for PRKAR1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000097499 377 801 GTF2F1 PKNOX1 SAP130 SIN3A KLF17 ZFHX2 ZNF766 ZBTB48 EGR1 ZSCAN29

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

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 Lys24, Lys63, Lys92, posLast=134134, posLast=222222, posLast=252252, and posLast=261261
  • 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 :
  • Belongs to the cAMP-dependent kinase regulatory chain family.
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.

Gene Ontology (GO) - Molecular Function for PRKAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004862 cAMP-dependent protein kinase inhibitor activity IDA 21812984
GO:0005515 protein binding IPI 11414803
GO:0008603 cAMP-dependent protein kinase regulator activity TAS,IDA 21812984
GO:0016301 kinase activity IEA --
GO:0030552 cAMP binding IEA --
genes like me logo Genes that share ontologies with PRKAR1A: view
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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKAR1A gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PRKAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 colocalizes_with immunological synapse IDA 17911601
GO:0005737 cytoplasm IDA 17911601
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005952 cAMP-dependent protein kinase complex IEA --
genes like me logo Genes that share ontologies with PRKAR1A: view

Pathways & Interactions for PRKAR1A Gene

SuperPathways for PRKAR1A Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
2 RET signaling
3 G-Beta Gamma Signaling
4 Aquaporin-mediated transport
5 Activation of cAMP-Dependent PKA
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:0001707 mesoderm formation IEA --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0003091 renal water homeostasis TAS --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 1832337
GO:0006469 negative regulation of protein kinase activity IEA --
genes like me logo Genes that share ontologies with PRKAR1A: view

Drugs & Compounds for PRKAR1A Gene

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H 89 dihydrochloride
130964-39-5

(5) Tocris Compounds for PRKAR1A Gene

Compound Action Cas Number
cAMPS-Sp, triethylammonium salt Cell-permeable cAMP analog 93602-66-5
H 89 dihydrochloride Protein kinase A inhibitor 130964-39-5
KT 5720 Selective protein kinase A inhibitor 108068-98-0
PKA inhibitor fragment (6-22) amide Potent protein kinase A inhibitor 121932-06-7
PKI 14-22 amide, myristoylated Cell-permeable protein kinase A inhibitor 201422-03-9

(1) ApexBio Compounds for PRKAR1A Gene

Compound Action Cas Number
KT 5720 108068-98-0
genes like me logo Genes that share compounds with PRKAR1A: view

Drug Products

Transcripts for PRKAR1A Gene

Unigene Clusters for PRKAR1A Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PRKAR1A Gene



Protein tissue co-expression partners for PRKAR1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRKAR1A Gene:

PRKAR1A

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.

Evidence on tissue expression from TISSUES for PRKAR1A Gene

  • Nervous system(5)
  • Blood(4.5)
  • Liver(4.5)
  • Skin(4)
  • Adrenal gland(3.4)
  • Heart(3.4)
  • Kidney(3.1)
  • Thyroid gland(3.1)
  • Muscle(2.5)
  • Eye(2.4)
  • Lung(2.4)
  • Spleen(2.4)
  • Intestine(2.3)
  • Gall bladder(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKAR1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PRKAR1A: view

Primer 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 34 35
  • 99.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRKAR1A 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKAR1A 34 35
  • 92.56 (n)
rat
(Rattus norvegicus)
Mammalia Prkar1a 34
  • 88.36 (n)
mouse
(Mus musculus)
Mammalia Prkar1a 34 16 35
  • 88.1 (n)
oppossum
(Monodelphis domestica)
Mammalia PRKAR1A 35
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRKAR1A 34 35
  • 85.88 (n)
chicken
(Gallus gallus)
Aves PRKAR1A 34 35
  • 82.41 (n)
lizard
(Anolis carolinensis)
Reptilia PRKAR1A 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkar1a 34
  • 77.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3502 34
zebrafish
(Danio rerio)
Actinopterygii prkar1aa 35
  • 92 (a)
OneToMany
prkar1ab 34 35
  • 77.75 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1202 34
fruit fly
(Drosophila melanogaster)
Insecta Pka-R1 36 34 35
  • 64.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006448 34
  • 64.05 (n)
worm
(Caenorhabditis elegans)
Secernentea kin-2 35
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCY1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8266 35
  • 60 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4544 34
Species where no ortholog for PRKAR1A was found in the sources mined by GeneCards:
  • 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
rs137853303 Pathogenic, Carney complex 1 (CNC1) [MIM:160980] 68,522,798(+) GCACT(C/T)GTACA reference, missense
rs281864786 Pathogenic, Carney complex 1 (CNC1) [MIM:160980] 68,525,842(+) AGCAG(A/C)CACTG reference, missense
rs387906693 Pathogenic, Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] 68,530,420(+) AGCAG(C/T)ACAAC intron-variant, reference, missense
rs387906694 Pathogenic, Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] 68,530,307(+) TCCTC(C/G)TGCTG intron-variant, reference, missense
rs387906695 Pathogenic, Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] 68,530,283(+) TGAAA(C/T)TGCAC intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv1105165 CNV insertion 17803354
esv2430964 CNV insertion 19546169
esv2557973 CNV insertion 19546169
esv2716147 CNV deletion 23290073
esv3310417 CNV mobile element insertion 20981092
esv3310445 CNV novel sequence insertion 20981092
esv3432204 CNV insertion 20981092
esv3446295 CNV insertion 20981092
esv3447514 CNV insertion 20981092
esv3641113 CNV loss 21293372
esv993931 CNV insertion 20482838
nsv1111149 CNV tandem duplication 24896259
nsv1138570 CNV deletion 24896259
nsv478472 CNV novel sequence insertion 20440878
nsv507856 OTHER sequence alteration 20534489
nsv510723 CNV deletion 20534489
nsv522126 CNV loss 19592680
nsv522271 CNV loss 19592680
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

Human Gene Mutation Database (HGMD)
PRKAR1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKAR1A

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

Disorders for PRKAR1A Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KAP0_HUMAN
  • 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.
  • 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.

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 22 46 64
  2. 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 22 46 64
  3. In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. (PMID: 18241045) Greene E.L. … Stratakis C.A. (Hum. Mutat. 2008) 3 4 22 64
  4. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. (PMID: 12213893) Groussin L. … Bertherat J. (J. Clin. Endocrinol. Metab. 2002) 3 4 22 64
  5. Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. (PMID: 26405036) Rhayem Y. … Clauser E. (J. Biol. Chem. 2015) 3 4 64

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Sources for PRKAR1A Gene