PRKAG2

From Wikipedia, the free encyclopedia


Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Identifiers
Symbol(s) PRKAG2; AAKG; AAKG2; CMH6; H91620p; WPWS
External IDs OMIM: 602743 MGI1336153 HomoloGene81846
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 51422 108099
Ensembl ENSG00000106617 ENSMUSG00000028944
Uniprot Q9UGJ0 Q3TMN8
Refseq NM_001040633 (mRNA)
NP_001035723 (protein)
NM_145401 (mRNA)
NP_663376 (protein)
Location Chr 7: 150.88 - 151.2 Mb Chr 5: 24.37 - 24.61 Mb
Pubmed search [1] [2]

Protein kinase, AMP-activated, gamma 2 non-catalytic subunit, also known as PRKAG2, is a human gene.[1]

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[1]

[edit] References

[edit] Further reading

  • Gollob MH, Green MS, Tang AS, Roberts R (2002). "PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy.". Curr. Opin. Cardiol. 17 (3): 229–34. PMID 12015471. 
  • Gollob MH (2003). "Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.". Biochem. Soc. Trans. 31 (Pt 1): 228–31. doi:10.1042/. PMID 12546691. 
  • Ofir M, Hochhauser E, Vidne BA, et al. (2007). "[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage]". Harefuah 146 (10): 770–5, 813–4. PMID 17990392. 
  • 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. 
  • MacRae CA, Ghaisas N, Kass S, et al. (1995). "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.". J. Clin. Invest. 96 (3): 1216–20. PMID 7657794. 
  • 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. 
  • Stapleton D, Mitchelhill KI, Gao G, et al. (1996). "Mammalian AMP-activated protein kinase subfamily.". J. Biol. Chem. 271 (2): 611–4. PMID 8557660. 
  • Gao G, Fernandez CS, Stapleton D, et al. (1996). "Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase.". J. Biol. Chem. 271 (15): 8675–81. PMID 8621499. 
  • Swingler S, Gallay P, Camaur D, et al. (1997). "The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix.". J. Virol. 71 (6): 4372–7. PMID 9151826. 
  • Stapleton D, Woollatt E, Mitchelhill KI, et al. (1997). "AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location.". FEBS Lett. 409 (3): 452–6. PMID 9224708. 
  • Chen P, Mayne M, Power C, Nath A (1997). "The Tat protein of HIV-1 induces tumor necrosis factor-alpha production. Implications for HIV-1-associated neurological diseases.". J. Biol. Chem. 272 (36): 22385–8. PMID 9278385. 
  • Zidovetzki R, Wang JL, Chen P, et al. (1998). "Human immunodeficiency virus Tat protein induces interleukin 6 mRNA expression in human brain endothelial cells via protein kinase C- and cAMP-dependent protein kinase pathways.". AIDS Res. Hum. Retroviruses 14 (10): 825–33. PMID 9671211. 
  • Mayne M, Bratanich AC, Chen P, et al. (1998). "HIV-1 tat molecular diversity and induction of TNF-alpha: implications for HIV-induced neurological disease.". Neuroimmunomodulation 5 (3-4): 184–92. PMID 9730685. 
  • "Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097–108. PMID 9847074. 
  • Cheung PC, Salt IP, Davies SP, et al. (2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding.". Biochem. J. 346 Pt 3: 659–69. PMID 10698692. 
  • Lang T, Yu L, Tu Q, et al. (2001). "Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36.". Genomics 70 (2): 258–63. doi:10.1006/geno.2000.6376. PMID 11112354. 
  • Blair E, Redwood C, Ashrafian H, et al. (2001). "Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.". Hum. Mol. Genet. 10 (11): 1215–20. PMID 11371514. 
  • Gollob MH, Green MS, Tang AS, et al. (2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.". N. Engl. J. Med. 344 (24): 1823–31. PMID 11407343. 
  • Hamilton SR, Stapleton D, O'Donnell JB, et al. (2001). "An activating mutation in the gamma1 subunit of the AMP-activated protein kinase.". FEBS Lett. 500 (3): 163–8. PMID 11445078.