“PHKG1”的意思、由来-开放百科全书

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12.^[2]

References

1. ^{{cite journal |vauthors=Wehner M, Kilimann MW | title = Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1) | journal = Hum Genet | volume = 96 | issue = 5 | pages = 616–8 |date=Jan 1996 | pmid = 8530014 | pmc = | doi = 10.1007/bf00197422}}
2. ^¹{{cite web | title = Entrez Gene: PHKG1 phosphorylase kinase, gamma 1 (muscle)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5260| accessdate = }}

Further reading

{{cite journal | author=Jones TA |title=Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21 |journal=Biochim. Biophys. Acta |volume=1048 |issue= 1 |pages= 24–9 |year= 1990 |pmid= 2297530 |doi= 10.1016/0167-4781(90)90017-V|name-list-format=vanc| author2=da Cruz e Silva EF | author3=Spurr NK | display-authors=3 | last4=Sheer | first4=D | last5=Cohen | first5=PT }}

{{cite journal | author=Harris WR |title=Purification and characterization of catalytic fragments of phosphorylase kinase gamma subunit missing a calmodulin-binding domain |journal=J. Biol. Chem. |volume=265 |issue= 20 |pages= 11740–5 |year= 1990 |pmid= 2365696 |doi= |name-list-format=vanc| author2=Malencik DA | author3=Johnson CM | display-authors=3 | last4=Carr | first4=SA | last5=Roberts | first5=GD | last6=Byles | first6=CA | last7=Anderson | first7=SR | last8=Heilmeyer Jr | first8=LM | last9=Fischer | first9=EH }}

{{cite journal |vauthors=Dasgupta M, Honeycutt T, Blumenthal DK |title=The gamma-subunit of skeletal muscle phosphorylase kinase contains two noncontiguous domains that act in concert to bind calmodulin |journal=J. Biol. Chem. |volume=264 |issue= 29 |pages= 17156–63 |year= 1989 |pmid= 2507540 |doi= }}

{{cite journal | author=Drewes G |title=Microtubule-associated protein/microtubule affinity-regulating kinase (p110mark). A novel protein kinase that regulates tau-microtubule interactions and dynamic instability by phosphorylation at the Alzheimer-specific site serine 262 |journal=J. Biol. Chem. |volume=270 |issue= 13 |pages= 7679–88 |year= 1995 |pmid= 7706316 |doi= 10.1074/jbc.270.13.7679 |name-list-format=vanc| author2=Trinczek B | author3=Illenberger S | display-authors=3 | last4=Biernat | first4=J | last5=Schmitt-Ulms | first5=G | last6=Meyer | first6=HE | last7=Mandelkow | first7=EM | last8=Mandelkow | first8=E}}

{{cite journal |vauthors=Wehner M, Clemens PR, Engel AG, Kilimann MW |title=Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 1983–7 |year= 1995 |pmid= 7874115 |doi= 10.1093/hmg/3.11.1983}}

{{cite journal |vauthors=Yuan CJ, Huang CY, Graves DJ |title=Oxidation and site-directed mutagenesis of the sulfhydryl groups of a truncated gamma catalytic subunit of phosphorylase kinase. Functional and structural effects |journal=J. Biol. Chem. |volume=269 |issue= 39 |pages= 24367–73 |year= 1994 |pmid= 7929096 |doi= }}

{{cite journal |vauthors=Malencik DA, Zhao Z, Anderson SR |title=Preparation and functional characterization of a catalytically active fragment of phosphorylase kinase |journal=Mol. Cell. Biochem. |volume=127-128 |issue= |pages= 31–43 |year= 1994 |pmid= 7935360 |doi=10.1007/BF01076755 }}

{{cite journal |vauthors=Steiner RF, Juminaga D, Albaugh S, Washington H |title=A comparison of the properties of the binary and ternary complexes formed by calmodulin and troponin C with two regulatory peptides of phosphorylase kinase |journal=Biophys. Chem. |volume=59 |issue= 3 |pages= 277–88 |year= 1996 |pmid= 8672716 |doi=10.1016/0301-4622(95)00125-5 }}

{{cite journal | author=Paudel HK |title=The regulatory Ser262 of microtubule-associated protein tau is phosphorylated by phosphorylase kinase |journal=J. Biol. Chem. |volume=272 |issue= 3 |pages= 1777–85 |year= 1997 |pmid= 8999860 |doi= 10.1074/jbc.272.3.1777}}

{{cite journal | author=Lowe ED |title=The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition |journal=EMBO J. |volume=16 |issue= 22 |pages= 6646–58 |year= 1998 |pmid= 9362479 |doi= 10.1093/emboj/16.22.6646 | pmc=1170269 |name-list-format=vanc| author2=Noble ME | author3=Skamnaki VT | display-authors=3 | last4=Oikonomakos | first4=NG | last5=Owen | first5=DJ | last6=Johnson | first6=LN }}

{{cite journal | author=Sengupta A |title=Phosphorylation of tau at both Thr 231 and Ser 262 is required for maximal inhibition of its binding to microtubules |journal=Arch. Biochem. Biophys. |volume=357 |issue= 2 |pages= 299–309 |year= 1998 |pmid= 9735171 |doi= 10.1006/abbi.1998.0813 |name-list-format=vanc| author2=Kabat J | author3=Novak M | display-authors=3 | last4=Wu | first4=Q | last5=Grundke-Iqbal | first5=I | last6=Iqbal | first6=K }}

{{cite journal | author=Wang JZ |title=Tau is phosphorylated by GSK-3 at several sites found in Alzheimer disease and its biological activity markedly inhibited only after it is prephosphorylated by A-kinase |journal=FEBS Lett. |volume=436 |issue= 1 |pages= 28–34 |year= 1998 |pmid= 9771888 |doi=10.1016/S0014-5793(98)01090-4 |name-list-format=vanc| author2=Wu Q | author3=Smith A | display-authors=3 | last4=Grundke-Iqbal | first4=I | last5=Iqbal | first5=K }}

{{cite journal | author=Hanger DP |title=New phosphorylation sites identified in hyperphosphorylated tau (paired helical filament-tau) from Alzheimer's disease brain using nanoelectrospray mass spectrometry |journal=J. Neurochem. |volume=71 |issue= 6 |pages= 2465–76 |year= 1998 |pmid= 9832145 |doi=10.1046/j.1471-4159.1998.71062465.x |name-list-format=vanc| author2=Betts JC | author3=Loviny TL | display-authors=3 | last4=Blackstock | first4=Walter P. | last5=Anderton | first5=Brian H. }}

{{cite journal | author=Schneider A |title=Phosphorylation that detaches tau protein from microtubules (Ser262, Ser214) also protects it against aggregation into Alzheimer paired helical filaments |journal=Biochemistry |volume=38 |issue= 12 |pages= 3549–58 |year= 1999 |pmid= 10090741 |doi= 10.1021/bi981874p |name-list-format=vanc| author2=Biernat J | author3=von Bergen M | display-authors=3 | last4=Mandelkow | first4=E. | last5=Mandelkow | first5=E.-M. }}

{{cite journal | author=Reynolds CH |title=Phosphorylation sites on tau identified by nanoelectrospray mass spectrometry: differences in vitro between the mitogen-activated protein kinases ERK2, c-Jun N-terminal kinase and P38, and glycogen synthase kinase-3beta |journal=J. Neurochem. |volume=74 |issue= 4 |pages= 1587–95 |year= 2000 |pmid= 10737616 |doi=10.1046/j.1471-4159.2000.0741587.x |name-list-format=vanc| author2=Betts JC | author3=Blackstock WP | display-authors=3 | last4=Nebreda | first4=Angel R. | last5=Anderton | first5=Brian H. }}

{{cite journal |vauthors=Liu F, Iqbal K, Grundke-Iqbal I, Gong CX |title=Involvement of aberrant glycosylation in phosphorylation of tau by cdk5 and GSK-3beta |journal=FEBS Lett. |volume=530 |issue= 1–3 |pages= 209–14 |year= 2002 |pmid= 12387894 |doi=10.1016/S0014-5793(02)03487-7 }}

{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{cite journal | author=Gevaert K |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 |name-list-format=vanc| author2=Goethals M | author3=Martens L | display-authors=3 | last4=Van Damme | first4=Jozef | last5=Staes | first5=An | last6=Thomas | first6=Grégoire R. | last7=Vandekerckhove | first7=Joël }}

{{cite journal | author=Burwinkel B |title=Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases |journal=Eur. J. Hum. Genet. |volume=11 |issue= 7 |pages= 516–26 |year= 2004 |pmid= 12825073 |doi= 10.1038/sj.ejhg.5200996 |name-list-format=vanc| author2=Hu B | author3=Schroers A | display-authors=3 | last4=Clemens | first4=Paula R | last5=Moses | first5=Shimon W | last6=Shin | first6=Yoon S | last7=Pongratz | first7=Dieter | last8=Vorgerd | first8=Matthias | last9=Kilimann | first9=Manfred W }}

1 : EC 2.7.11