PHKA2: Difference between revisions
Jump to navigation
Jump to search
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}})) |
m (Bot: HTTP→HTTPS) |
||
| Line 1: | Line 1: | ||
{{Infobox_gene}} | |||
{{ | '''Phosphorylase b kinase regulatory subunit alpha, liver isoform''' is an [[enzyme]] that in humans is encoded by the ''PHKA2'' [[gene]].<ref name="pmid2387090">{{cite journal | author = Willems P | title = Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency | journal = Clin Genet | volume = 38 | issue = 1 | pages = 80 |date=Sep 1990 | pmid = 2387090 | pmc = | doi =10.1111/j.1399-0004.1990.tb03552.x }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5256| accessdate = }}</ref> | ||
}} | |||
| | |||
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | <!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | ||
| Line 56: | Line 9: | ||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | *{{cite journal |vauthors=Davidson JJ, Ozçelik T, Hamacher C, etal |title=cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 6 |pages= 2096–100 |year= 1992 |pmid= 1372435 |doi=10.1073/pnas.89.6.2096 | pmc=48603 }} | ||
*{{cite journal | *{{cite journal |vauthors=Wauters JG, Bossuyt PJ, Davidson J, etal |title=Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp. |journal=Cytogenet. Cell Genet. |volume=60 |issue= 3-4 |pages= 194–6 |year= 1992 |pmid= 1505214 |doi=10.1159/000133334 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Daube H, Billich A, Mann K, Schramm HJ |title=Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease. |journal=Biochem. Biophys. Res. Commun. |volume=178 |issue= 3 |pages= 892–8 |year= 1991 |pmid= 1872871 |doi=10.1016/0006-291X(91)90975-D }} | ||
*{{cite journal | | *{{cite journal |vauthors=Willems PJ, Gerver WJ, Berger R, Fernandes J |title=The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. |journal=Eur. J. Pediatr. |volume=149 |issue= 4 |pages= 268–71 |year= 1990 |pmid= 2303074 |doi=10.1007/BF02106291 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Huijing F, Fernandes J |title=X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. |journal=Am. J. Hum. Genet. |volume=21 |issue= 3 |pages= 275–84 |year= 1969 |pmid= 5306139 |doi= | pmc=1706412 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hirono H, Hayasaka K, Sato W, etal |title=Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. |journal=Biochem. Mol. Biol. Int. |volume=36 |issue= 3 |pages= 505–11 |year= 1995 |pmid= 7549948 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Hendrickx J, Coucke P, Dams E, etal |title=Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. |journal=Hum. Mol. Genet. |volume=4 |issue= 1 |pages= 77–83 |year= 1995 |pmid= 7711737 |doi= 10.1093/hmg/4.1.77}} | ||
*{{cite journal | *{{cite journal |vauthors=van den Berg IE, van Beurden EA, Malingré HE, etal |title=X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. |journal=Am. J. Hum. Genet. |volume=56 |issue= 2 |pages= 381–7 |year= 1995 |pmid= 7847371 |doi= | pmc=1801119 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Wüllrich A, Hamacher C, Schneider A, Kilimann MW |title=The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. |journal=J. Biol. Chem. |volume=268 |issue= 31 |pages= 23208–14 |year= 1993 |pmid= 8226841 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Hendrickx J, Coucke P, Bossuyt P, etal |title=X-linked liver glycogenosis: localization and isolation of a candidate gene. |journal=Hum. Mol. Genet. |volume=2 |issue= 5 |pages= 583–9 |year= 1993 |pmid= 8518797 |doi=10.1093/hmg/2.5.583 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hendrickx J, Dams E, Coucke P, etal |title=X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 649–52 |year= 1997 |pmid= 8733133 |doi=10.1093/hmg/5.5.649 }} | ||
*{{cite journal | *{{cite journal |vauthors=Burwinkel B, Shin YS, Bakker HD, etal |title=Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 653–8 |year= 1997 |pmid= 8733134 |doi=10.1093/hmg/5.5.653 }} | ||
*{{cite journal | *{{cite journal |vauthors=Burwinkel B, Amat L, Gray RG, etal |title=Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. |journal=Hum. Genet. |volume=102 |issue= 4 |pages= 423–9 |year= 1998 |pmid= 9600238 |doi=10.1007/s004390050715 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Hendrickx J, Bosshard NU, Willems P, Gitzelmann R |title=Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. |journal=Eur. J. Pediatr. |volume=157 |issue= 11 |pages= 919–23 |year= 1999 |pmid= 9835437 |doi=10.1007/s004310050967 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hendrickx J, Lee P, Keating JP, etal |title=Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1541–9 |year= 1999 |pmid= 10330341 |doi=10.1086/302399 | pmc=1377897 }} | ||
*{{cite journal | *{{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 | *{{cite journal |vauthors=Ban K, Sugiyama K, Goto K, etal |title=Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. |journal=Tohoku J. Exp. Med. |volume=200 |issue= 1 |pages= 47–53 |year= 2004 |pmid= 12862311 |doi=10.1620/tjem.200.47 }} | ||
*{{cite journal | author= | *{{cite journal | author=Pallen MJ |title=Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. |journal=Protein Sci. |volume=12 |issue= 8 |pages= 1804–7 |year= 2004 |pmid= 12876330 |doi=10.1110/ps.0371103 | pmc=2323967 }} | ||
*{{cite journal |vauthors=Johnson JM, Castle J, Garrett-Engele P, etal |title=Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. |journal=Science |volume=302 |issue= 5653 |pages= 2141–4 |year= 2004 |pmid= 14684825 |doi= 10.1126/science.1090100 }} | |||
*{{cite journal | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{protein- | ==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]] | |||
{{gene-X-stub}} | |||
Latest revision as of 18:03, 7 September 2017
| VALUE_ERROR (nil) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Aliases | |||||||
| External IDs | GeneCards: [1] | ||||||
| Orthologs | |||||||
| Species | Human | Mouse | |||||
| Entrez |
|
| |||||
| Ensembl |
|
| |||||
| UniProt |
|
| |||||
| RefSeq (mRNA) |
|
| |||||
| RefSeq (protein) |
|
| |||||
| Location (UCSC) | n/a | n/a | |||||
| PubMed search | n/a | n/a | |||||
| Wikidata | |||||||
| |||||||
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.[1][2]
References
- ↑ Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10.1111/j.1399-0004.1990.tb03552.x. PMID 2387090.
- ↑ "Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)".
Further reading
- Davidson JJ, Ozçelik T, Hamacher C, et al. (1992). "cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2096–100. doi:10.1073/pnas.89.6.2096. PMC 48603. PMID 1372435.
- Wauters JG, Bossuyt PJ, Davidson J, et al. (1992). "Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp". Cytogenet. Cell Genet. 60 (3–4): 194–6. doi:10.1159/000133334. PMID 1505214.
- Daube H, Billich A, Mann K, Schramm HJ (1991). "Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease". Biochem. Biophys. Res. Commun. 178 (3): 892–8. doi:10.1016/0006-291X(91)90975-D. PMID 1872871.
- Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur. J. Pediatr. 149 (4): 268–71. doi:10.1007/BF02106291. PMID 2303074.
- Huijing F, Fernandes J (1969). "X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency". Am. J. Hum. Genet. 21 (3): 275–84. PMC 1706412. PMID 5306139.
- Hirono H, Hayasaka K, Sato W, et al. (1995). "Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency". Biochem. Mol. Biol. Int. 36 (3): 505–11. PMID 7549948.
- Hendrickx J, Coucke P, Dams E, et al. (1995). "Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease". Hum. Mol. Genet. 4 (1): 77–83. doi:10.1093/hmg/4.1.77. PMID 7711737.
- van den Berg IE, van Beurden EA, Malingré HE, et al. (1995). "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit". Am. J. Hum. Genet. 56 (2): 381–7. PMC 1801119. PMID 7847371.
- Wüllrich A, Hamacher C, Schneider A, Kilimann MW (1993). "The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution". J. Biol. Chem. 268 (31): 23208–14. PMID 8226841.
- Hendrickx J, Coucke P, Bossuyt P, et al. (1993). "X-linked liver glycogenosis: localization and isolation of a candidate gene". Hum. Mol. Genet. 2 (5): 583–9. doi:10.1093/hmg/2.5.583. PMID 8518797.
- Hendrickx J, Dams E, Coucke P, et al. (1997). "X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase". Hum. Mol. Genet. 5 (5): 649–52. doi:10.1093/hmg/5.5.649. PMID 8733133.
- Burwinkel B, Shin YS, Bakker HD, et al. (1997). "Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)". Hum. Mol. Genet. 5 (5): 653–8. doi:10.1093/hmg/5.5.653. PMID 8733134.
- Burwinkel B, Amat L, Gray RG, et al. (1998). "Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene". Hum. Genet. 102 (4): 423–9. doi:10.1007/s004390050715. PMID 9600238.
- Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1999). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur. J. Pediatr. 157 (11): 919–23. doi:10.1007/s004310050967. PMID 9835437.
- Hendrickx J, Lee P, Keating JP, et al. (1999). "Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II". Am. J. Hum. Genet. 64 (6): 1541–9. doi:10.1086/302399. PMC 1377897. PMID 10330341.
- 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.
- Ban K, Sugiyama K, Goto K, et al. (2004). "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency". Tohoku J. Exp. Med. 200 (1): 47–53. doi:10.1620/tjem.200.47. PMID 12862311.
- Pallen MJ (2004). "Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase". Protein Sci. 12 (8): 1804–7. doi:10.1110/ps.0371103. PMC 2323967. PMID 12876330.
- Johnson JM, Castle J, Garrett-Engele P, et al. (2004). "Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays". Science. 302 (5653): 2141–4. doi:10.1126/science.1090100. PMID 14684825.
External links
 | This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it. |