Phosphorylase kinase, alpha 1

PHKA1
Identifiers
Aliases	PHKA1, PHKA, Phosphorylase kinase, alpha 1, phosphorylase kinase regulatory subunit alpha 1
External IDs	OMIM: 311870; MGI: 97576; HomoloGene: 1981; GeneCards: PHKA1; OMA:PHKA1 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq13.1 Start 72,578,814 bp End 72,714,319 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X D|X 45.47 cM Start 101,557,581 bp End 101,687,852 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle Skeletal muscle tissue of rectus abdominis biceps brachii vastus lateralis muscle Skeletal muscle tissue of biceps brachii muscle of thigh deltoid muscle tibialis anterior muscle triceps brachii muscle right adrenal cortex Top expressed in triceps brachii muscle medial head of gastrocnemius muscle vastus lateralis muscle muscle of thigh sternocleidomastoid muscle temporal muscle tibialis anterior muscle digastric muscle extensor digitorum longus muscle masseter muscle More reference expression data BioGPS n/a
Gene ontology Molecular function catalytic activity calmodulin binding phosphorylase kinase activity Cellular component cytosol plasma membrane membrane phosphorylase kinase complex Biological process glycogen metabolic process generation of precursor metabolites and energy protein phosphorylation carbohydrate metabolic process glycogen catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5255 18679 Ensembl ENSG00000067177 ENSMUSG00000034055 UniProt P46020 P18826 RefSeq (mRNA) NM_001122670 NM_001172436 NM_002637 NM_008832 NM_173021 RefSeq (protein) NP_001116142 NP_001165907 NP_002628 NP_032858 NP_766609 Location (UCSC) Chr X: 72.58 – 72.71 Mb Chr X: 101.56 – 101.69 Mb PubMed search
Wikidata
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Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene. It is the muscle isoform of Phosphorylase kinase (PhK).

The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (EC 2.7.1.38), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; MIM 172490), and gamma (PHKG1; MIM 172470 and PHKG2; MIM 172471) subunits have several isoforms; the delta subunit is calmodulin (CALM1; MIM 114180). PHKA2 (MIM 306000) encodes the alpha subunit of liver-specific phosphorylase kinase and is also located on the X chromosome.[supplied by OMIM]

A deficiency of this enzyme causes glycogen storage disease type IXd (GSD 9D).

Further reading

• Brushia RJ, Walsh DA (1999). "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure". Front. Biosci. 4 (1–3): D618–41. doi:10.2741/Brushia. PMID 10487978.
• 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.
• Meyer HE, Meyer GF, Dirks H, Heilmeyer LM (1990). "Localization of phosphoserine residues in the alpha subunit of rabbit skeletal muscle phosphorylase kinase". Eur. J. Biochem. 188 (2): 367–76. doi:10.1111/j.1432-1033.1990.tb15413.x. PMID 2108025.
• Francke U, Darras BT, Zander NF, Kilimann MW (1989). "Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13". Am. J. Hum. Genet. 45 (2): 276–82. PMC 1683359. PMID 2757032.
• Wehner M, Clemens PR, Engel AG, Kilimann MW (1995). "Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit". Hum. Mol. Genet. 3 (11): 1983–7. doi:10.1093/hmg/3.11.1983. PMID 7874115.
• 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.
• 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, Hu B, Schroers A, et al. (2004). "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases". Eur. J. Hum. Genet. 11 (7): 516–26. doi:10.1038/sj.ejhg.5200996. PMID 12825073.
• 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.
• 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.

External links

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