PRKAG2: Difference between revisions
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== Function == | == Function == | ||
[[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 [[CBS domain]]s. 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.<ref name="entrez"/> | [[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 [[CBS domain]]s. Mutations in this gene have been associated with [[ventricular pre-excitation]] ([[Wolff-Parkinson-White syndrome]]), progressive conduction system disease and [[cardiac hypertrophy]]. [[Alternate splicing|Alternate transcriptional]] splice variants, encoding different [[Protein isoform|isoforms]], have been characterized.<ref name="entrez"/> | ||
==Interactions== | ==Interactions== | ||
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*{{cite journal |vauthors=Ofir M, Hochhauser E, Vidne BA, etal |title=[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage] |journal=Harefuah |volume=146 |issue= 10 |pages= 770–5, 813–4 |year= 2007 |pmid= 17990392 |doi= }} | *{{cite journal |vauthors=Ofir M, Hochhauser E, Vidne BA, etal |title=[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage] |journal=Harefuah |volume=146 |issue= 10 |pages= 770–5, 813–4 |year= 2007 |pmid= 17990392 |doi= }} | ||
*{{cite journal |vauthors=Hofmann B, Nishanian P, Baldwin RL, etal |title=HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism. |journal=J. Immunol. |volume=145 |issue= 11 |pages= 3699–705 |year= 1991 |pmid= 1978848 |doi= }} | *{{cite journal |vauthors=Hofmann B, Nishanian P, Baldwin RL, etal |title=HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism. |journal=J. Immunol. |volume=145 |issue= 11 |pages= 3699–705 |year= 1991 |pmid= 1978848 |doi= }} | ||
*{{cite journal |vauthors=MacRae CA, Ghaisas N, Kass S, etal |title=Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. |journal=J. Clin. Invest. |volume=96 |issue= 3 |pages= 1216–20 |year= 1995 |pmid= 7657794 |doi=10.1172/JCI118154 | pmc=185741 }} | *{{cite journal |vauthors=MacRae CA, Ghaisas N, Kass S, etal |title=Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. |journal=J. Clin. Invest. |volume=96 |issue= 3 |pages= 1216–20 |year= 1995 |pmid= 7657794 |doi=10.1172/JCI118154 | pmc=185741 |url=http://edoc.mdc-berlin.de/1996/1/1996oa.pdf }} | ||
*{{cite journal |vauthors=Hofmann B, Nishanian P, Nguyen T, etal |title=Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 14 |pages= 6676–80 |year= 1993 |pmid= 7688126 |doi=10.1073/pnas.90.14.6676 | pmc=46995 }} | *{{cite journal |vauthors=Hofmann B, Nishanian P, Nguyen T, etal |title=Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 14 |pages= 6676–80 |year= 1993 |pmid= 7688126 |doi=10.1073/pnas.90.14.6676 | pmc=46995 |bibcode=1993PNAS...90.6676H }} | ||
*{{cite journal |vauthors=Hofmann B, Nishanian P, Fan J, etal |title=HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro. |journal=AIDS |volume=8 |issue= 7 |pages= 1016–7 |year= 1994 |pmid= 7946090 |doi=10.1097/00002030-199407000-00025 }} | *{{cite journal |vauthors=Hofmann B, Nishanian P, Fan J, etal |title=HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro. |journal=AIDS |volume=8 |issue= 7 |pages= 1016–7 |year= 1994 |pmid= 7946090 |doi=10.1097/00002030-199407000-00025 }} | ||
*{{cite journal |vauthors=Swingler S, Gallay P, Camaur D, etal |title=The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix. |journal=J. Virol. |volume=71 |issue= 6 |pages= 4372–7 |year= 1997 |pmid= 9151826 |doi= | pmc=191654 }} | *{{cite journal |vauthors=Swingler S, Gallay P, Camaur D, etal |title=The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix. |journal=J. Virol. |volume=71 |issue= 6 |pages= 4372–7 |year= 1997 |pmid= 9151826 |doi= | pmc=191654 }} | ||
Latest revision as of 14:16, 4 November 2018
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| External IDs | GeneCards: [1] | ||||||
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| Species | Human | Mouse | |||||
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| Location (UCSC) | n/a | n/a | |||||
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5'-AMP-activated protein kinase subunit gamma-2 is an enzyme that in humans is encoded by the PRKAG2 gene.[1][2][3]
Function
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 CBS 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.[3]
Interactions
PRKAG2 has been shown to interact with PRKAB2[4] and PRKAB1.[4]
References
- ↑ Stapleton D, Mitchelhill KI, Gao G, Widmer J, Michell BJ, Teh T, House CM, Fernandez CS, Cox T, Witters LA, Kemp BE (February 1996). "Mammalian AMP-activated protein kinase subfamily". J Biol Chem. 271 (2): 611–4. doi:10.1074/jbc.271.2.611. PMID 8557660.
- ↑ Gao G, Fernandez CS, Stapleton D, Auster AS, Widmer J, Dyck JR, Kemp BE, Witters LA (June 1996). "Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase". J Biol Chem. 271 (15): 8675–81. doi:10.1074/jbc.271.15.8675. PMID 8621499.
- ↑ 3.0 3.1 "Entrez Gene: PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit".
- ↑ 4.0 4.1 Cheung, P C; Salt I P; Davies S P; Hardie D G; Carling D (March 2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". Biochem. J. ENGLAND. 346 Pt 3: 659–69. doi:10.1042/0264-6021:3460659. ISSN 0264-6021. PMC 1220898. PMID 10698692.
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. doi:10.1097/00001573-200205000-00004. 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/BST0310228. 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" (PDF). J. Clin. Invest. 96 (3): 1216–20. doi:10.1172/JCI118154. PMC 185741. 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. Bibcode:1993PNAS...90.6676H. doi:10.1073/pnas.90.14.6676. PMC 46995. 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. doi:10.1097/00002030-199407000-00025. PMID 7946090.
- 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. PMC 191654. 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. doi:10.1016/S0014-5793(97)00569-3. 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. doi:10.1074/jbc.272.36.22385. 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. doi:10.1089/aid.1998.14.825. 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. doi:10.1159/000026336. PMID 9730685.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. 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. doi:10.1042/0264-6021:3460659. PMC 1220898. 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. doi:10.1093/hmg/10.11.1215. 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. doi:10.1056/NEJM200106143442403. 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. doi:10.1016/S0014-5793(01)02602-3. PMID 11445078.
External links
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