PRKAR1A

From Wikipedia, the free encyclopedia

Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
PDB rendering based on 1ne4.
Available structures: 1ne4, 1ne6, 1rgs, 1rl3, 1u7e, 2ezw
Identifiers
Symbol(s) PRKAR1A; CAR; CNC; CNC1; DKFZp779L0468; MGC17251; PKR1; PRKAR1; TSE1
External IDs OMIM: 188830 MGI: 104878 HomoloGene: 37664
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 5573 19084
Ensembl ENSG00000108946 ENSMUSG00000020612
Uniprot P10644 Q3UBA7
Refseq NM_002734 (mRNA)
NP_002725 (protein)		 NM_021880 (mRNA)
NP_068680 (protein)
Location Chr 17: 64.02 - 64.04 Mb Chr 11: 109.47 - 109.49 Mb
Pubmed search [1] [2]

Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1), also known as PRKAR1A, is a human gene.

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase (AMPK), which transduces the signal through phosphorylation of different target proteins. The inactive holoenzyme of AMPK 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 of AMPK have been identified in humans. The protein encoded by this gene is 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. Functional null mutations in this gene cause Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome. This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. Three alternatively spliced transcript variants encoding the same protein have been observed.[1]

Mutation of PRKAR1A leads to the Carney complex, associating multiple endocrine tumors.[citation needed]

[edit] See also

[edit] References

  1. ^ Entrez Gene: PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1).

[edit] Further reading

  • Stratakis CA (2002). "Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).". Ann. N. Y. Acad. Sci. 968: 3–21. PMID 12119264. 
  • Bourdeau I, Stratakis CA (2002). "Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease.". Ann. N. Y. Acad. Sci. 968: 240–55. PMID 12119280. 
  • Alto N, Carlisle Michel JJ, Dodge KL, et al. (2003). "Intracellular targeting of protein kinases and phosphatases.". Diabetes 51 Suppl 3: S385–8. PMID 12475780. 
  • Stergiopoulos SG, Stratakis CA (2003). "Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!". FEBS Lett. 546 (1): 59–64. PMID 12829237. 
  • Bossis I, Stratakis CA (2004). "Minireview: PRKAR1A: normal and abnormal functions.". Endocrinology 145 (12): 5452–8. doi:10.1210/en.2004-0900. PMID 15331577. 
  • Cho-Chung YS, Nesterova MV (2006). "Tumor reversion: protein kinase A isozyme switching.". Ann. N. Y. Acad. Sci. 1058: 76–86. doi:10.1196/annals.1359.014. PMID 16394127. 
  • Lytras A, Tolis G (2006). "Growth hormone-secreting tumors: genetic aspects and data from animal models.". Neuroendocrinology 83 (3-4): 166–78. doi:10.1159/000095525. PMID 17047380. 
  • Harrich D, McMillan N, Munoz L, et al. (2007). "Will diverse Tat interactions lead to novel antiretroviral drug targets?". Current drug targets 7 (12): 1595–606. PMID 17168834. 
  • Boshart M, Weih F, Nichols M, Schütz G (1991). "The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-dependent protein kinase.". Cell 66 (5): 849–59. PMID 1832337. 
  • Jones KW, Shapero MH, Chevrette M, Fournier RE (1991). "Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A.". Cell 66 (5): 861–72. PMID 1889088. 
  • Hofmann B, Nishanian P, Baldwin RL, et al. (1991). "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism.". J. Immunol. 145 (11): 3699–705. PMID 1978848. 
  • Sandberg M, Skålhegg B, Jahnsen T (1990). "The two mRNA forms for the type I alpha regulatory subunit of cAMP-dependent protein kinase from human testis are due to the use of different polyadenylation site signals.". Biochem. Biophys. Res. Commun. 167 (1): 323–30. PMID 2310396. 
  • Lem J, Chin AC, Thayer MJ, et al. (1988). "Coordinate regulation of two genes encoding gluconeogenic enzymes by the trans-dominant locus Tse-1.". Proc. Natl. Acad. Sci. U.S.A. 85 (19): 7302–6. PMID 2902627. 
  • Sandberg M, Taskén K, Oyen O, et al. (1988). "Molecular cloning, cDNA structure and deduced amino acid sequence for a type I regulatory subunit of cAMP-dependent protein kinase from human testis.". Biochem. Biophys. Res. Commun. 149 (3): 939–45. PMID 3426618. 
  • Scambler P, Oyen O, Wainwright B, et al. (1987). "Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis.". Am. J. Hum. Genet. 41 (5): 925–32. PMID 3479018. 
  • Geahlen RL, Carmichael DF, Hashimoto E, Krebs EG (1982). "Phosphorylation of cAMP-dependent protein kinase subunits.". Adv. Enzyme Regul. 20: 195–209. PMID 6287816. 
  • Guild BC, Strominger JL (1984). "HLA-A2 antigen phosphorylation in vitro by cyclic AMP-dependent protein kinase. Sites of phosphorylation and segmentation in class i major histocompatibility complex gene structure.". J. Biol. Chem. 259 (21): 13504–10. PMID 6333425. 
  • Bongarzone I, Monzini N, Borrello MG, et al. (1993). "Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI alpha of cyclic AMP-dependent protein kinase A.". Mol. Cell. Biol. 13 (1): 358–66. PMID 7678053. 
  • Hofmann B, Nishanian P, Nguyen T, et al. (1993). "Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes.". Proc. Natl. Acad. Sci. U.S.A. 90 (14): 6676–80. PMID 7688126. 
  • Hofmann B, Nishanian P, Fan J, et al. (1994). "HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro.". AIDS 8 (7): 1016–7. PMID 7946090. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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