PHKG2: Difference between revisions

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Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.^[1]^[2]^[3]

References

↑ Hanks SK (Mar 1989). "Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis". Mol Endocrinol. 3 (1): 110–6. doi:10.1210/mend-3-1-110. PMID 2915644.
↑ Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF (Aug 1994). "Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16". Genomics. 20 (2): 169–75. doi:10.1006/geno.1994.1150. PMID 8020963.
↑ "Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)".

Hanks SK (1987). "Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family". Proc. Natl. Acad. Sci. U.S.A. 84 (2): 388–92. doi:10.1073/pnas.84.2.388. PMC 304212. PMID 2948189.
Søvik O, deBarsy T, Maehle B (1983). "Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance". Eur. J. Pediatr. 139 (3): 210. doi:10.1007/BF01377363. PMID 6962066.
Huang CY, Yuan CJ, Livanova NB, Graves DJ (1994). "Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit". Mol. Cell. Biochem. 127-128: 7–18. doi:10.1007/BF01076753. PMID 7935363.
Maichele AJ, Burwinkel B, Maire I, et al. (1996). "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans". Nat. Genet. 14 (3): 337–40. doi:10.1038/ng1196-337. PMID 8896567.
Lowe ED, Noble ME, Skamnaki VT, et al. (1998). "The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition". EMBO J. 16 (22): 6646–58. doi:10.1093/emboj/16.22.6646. PMC 1170269. PMID 9362479.
Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW (1998). "Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis". Hum. Mol. Genet. 7 (1): 149–54. doi:10.1093/hmg/7.1.149. PMID 9384616.
Burwinkel B, Tanner MS, Kilimann MW (2000). "Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)". J. Med. Genet. 37 (5): 376–7. doi:10.1136/jmg.37.5.376. PMC 1734590. PMID 10905889.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Burwinkel B, Rootwelt T, Kvittingen EA, et al. (2004). "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene". Pediatr. Res. 54 (6): 834–9. doi:10.1203/01.PDR.0000088069.09275.10. PMID 12930917.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Beauchamp NJ, Dalton A, Ramaswami U, et al. (2007). "Glycogen storage disease type IX: High variability in clinical phenotype". Mol. Genet. Metab. 92 (1–2): 88–99. doi:10.1016/j.ymgme.2007.06.007. PMID 17689125.

External links

GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX

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[pmid2915644-1] Hanks SK (Mar 1989). "Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis". Mol Endocrinol. 3 (1): 110–6. doi:10.1210/mend-3-1-110. PMID 2915644.

[pmid8020963-2] Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF (Aug 1994). "Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16". Genomics. 20 (2): 169–75. doi:10.1006/geno.1994.1150. PMID 8020963.

[entrez-3] "Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)".

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
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+{{Infobox_gene}}
-{{PBB_Controls
+'''Phosphorylase b kinase gamma catalytic chain, testis/liver isoform''' is an [[enzyme]] that in humans is encoded by the ''PHKG2'' [[gene]].<ref name="pmid2915644">{{cite journal | author = Hanks SK | title = Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis | journal = Mol Endocrinol | volume = 3 | issue = 1 | pages = 110–6 |date=Mar 1989 | pmid = 2915644 | pmc =  | doi =10.1210/mend-3-1-110  }}</ref><ref name="pmid8020963">{{cite journal |vauthors=Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF | title = Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16 | journal = Genomics | volume = 20 | issue = 2 | pages = 169–75 |date=Aug 1994 | pmid = 8020963 | pmc =  | doi = 10.1006/geno.1994.1150 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5261| accessdate = }}</ref>
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- | image =
- | image_source =
- | PDB =
- | Name = Phosphorylase kinase, gamma 2 (testis)
- | HGNCid = 8931
- | Symbol = PHKG2
- | AltSymbols =;
- | OMIM = 172471
- | ECnumber =
- | Homologene = 47915
- | MGIid = 1916211
-  | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004672 |text = protein kinase activity}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0004689 |text = phosphorylase kinase activity}} {{GNF_GO|id=GO:0005516 |text = calmodulin binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
-  | Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005964 |text = phosphorylase kinase complex}}
- | Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0005978 |text = glycogen biosynthetic process}} {{GNF_GO|id=GO:0006091 |text = generation of precursor metabolites and energy}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 5261
-    | Hs_Ensembl =
-    | Hs_RefseqProtein = NP_000285
-    | Hs_RefseqmRNA = NM_000294
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr =
-    | Hs_GenLoc_start =
-    | Hs_GenLoc_end =
-    | Hs_Uniprot =
-    | Mm_EntrezGene = 68961
-    | Mm_Ensembl = ENSMUSG00000030815
-    | Mm_RefseqmRNA = NM_026888
-    | Mm_RefseqProtein = NP_081164
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 7
-    | Mm_GenLoc_start = 127364552
-    | Mm_GenLoc_end = 127374453
-    | Mm_Uniprot = Q9DB30
-  }}
-}}
-'''Phosphorylase kinase, gamma 2 (testis)''', also known as '''PHKG2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5261| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
@@ Line 54: / Line 9: @@
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Hanks SK |title=Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. |journal=Mol. Endocrinol. |volume=3 |issue= 1 |pages= 110-6 |year= 1989 |pmid= 2915644 |doi=  }}
+*{{cite journal  | author=Hanks SK |title=Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 2 |pages= 388–92 |year= 1987 |pmid= 2948189 |doi=10.1073/pnas.84.2.388  | pmc=304212  }}
-*{{cite journal  | author=Hanks SK |title=Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 2 |pages= 388-92 |year= 1987 |pmid= 2948189 |doi=  }}
+*{{cite journal  |vauthors=Søvik O, deBarsy T, Maehle B |title=Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. |journal=Eur. J. Pediatr. |volume=139 |issue= 3 |pages= 210 |year= 1983 |pmid= 6962066 |doi=10.1007/BF01377363  }}
-*{{cite journal  | author=Søvik O, deBarsy T, Maehle B |title=Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. |journal=Eur. J. Pediatr. |volume=139 |issue= 3 |pages= 210 |year= 1983 |pmid= 6962066 |doi=  }}
+*{{cite journal  |vauthors=Huang CY, Yuan CJ, Livanova NB, Graves DJ |title=Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit. |journal=Mol. Cell. Biochem. |volume=127-128 |issue=  |pages= 7–18 |year= 1994 |pmid= 7935363 |doi=10.1007/BF01076753  }}
-*{{cite journal  | author=Huang CY, Yuan CJ, Livanova NB, Graves DJ |title=Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit. |journal=Mol. Cell. Biochem. |volume=127-128 |issue=  |pages= 7-18 |year= 1994 |pmid= 7935363 |doi=  }}
+*{{cite journal   |vauthors=Maichele AJ, Burwinkel B, Maire I, etal |title=Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 337–40 |year= 1996 |pmid= 8896567 |doi= 10.1038/ng1196-337 }}
-*{{cite journal  | author=Whitmore SA, Apostolou S, Lane S, ''et al.'' |title=Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. |journal=Genomics |volume=20 |issue= 2 |pages= 169-75 |year= 1994 |pmid= 8020963 |doi= 10.1006/geno.1994.1150 }}
+*{{cite journal   |vauthors=Lowe ED, Noble ME, Skamnaki VT, etal |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 }}
-*{{cite journal  | author=Maichele AJ, Burwinkel B, Maire I, ''et al.'' |title=Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 337-40 |year= 1996 |pmid= 8896567 |doi= 10.1038/ng1196-337 }}
+*{{cite journal  |vauthors=Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW |title=Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 149–54 |year= 1998 |pmid= 9384616 |doi=10.1093/hmg/7.1.149  }}
-*{{cite journal  | author=Lowe ED, Noble ME, Skamnaki VT, ''et al.'' |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 }}
+*{{cite journal  |vauthors=Burwinkel B, Tanner MS, Kilimann MW |title=Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) |journal=J. Med. Genet. |volume=37 |issue= 5 |pages= 376–7 |year= 2000 |pmid= 10905889 |doi=10.1136/jmg.37.5.376  | pmc=1734590  }}
-*{{cite journal  | author=Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW |title=Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 149-54 |year= 1998 |pmid= 9384616 |doi=  }}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 }}
-*{{cite journal  | author=Burwinkel B, Tanner MS, Kilimann MW |title=Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) |journal=J. Med. Genet. |volume=37 |issue= 5 |pages= 376-7 |year= 2000 |pmid= 10905889 |doi=  }}
+*{{cite journal   |vauthors=Burwinkel B, Rootwelt T, Kvittingen EA, etal |title=Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. |journal=Pediatr. Res. |volume=54 |issue= 6 |pages= 834–9 |year= 2004 |pmid= 12930917 |doi= 10.1203/01.PDR.0000088069.09275.10 }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
+*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
-*{{cite journal  | author=Burwinkel B, Rootwelt T, Kvittingen EA, ''et al.'' |title=Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. |journal=Pediatr. Res. |volume=54 |issue= 6 |pages= 834-9 |year= 2004 |pmid= 12930917 |doi= 10.1203/01.PDR.0000088069.09275.10 }}
+*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal   |vauthors=Beauchamp NJ, Dalton A, Ramaswami U, etal |title=Glycogen storage disease type IX: High variability in clinical phenotype. |journal=Mol. Genet. Metab. |volume=92 |issue= 1-2 |pages= 88–99 |year= 2007 |pmid= 17689125 |doi= 10.1016/j.ymgme.2007.06.007 }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
-*{{cite journal  | author=Beauchamp NJ, Dalton A, Ramaswami U, ''et al.'' |title=Glycogen storage disease type IX: High variability in clinical phenotype. |journal=Mol. Genet. Metab. |volume=92 |issue= 1-2 |pages= 88-99 |year= 2007 |pmid= 17689125 |doi= 10.1016/j.ymgme.2007.06.007 }}
 }}
 {{refend}}
+==External links==
+* [https://www.ncbi.nlm.nih.gov/books/NBK55061/  GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX]
+{{Serine/threonine-specific protein kinases}}
+{{Enzymes}}
+{{Portal bar|Molecular and Cellular Biology|border=no}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+[[Category:EC 2.7.11]]
 {{protein-stub}}
-{{WikiDoc Sources}}

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list)

PHKG2: Difference between revisions

Revision as of 18:04, 7 September 2017

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