Phosphorylase kinase, alpha 1

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene.^[5] It is the muscle isoform of Phosphorylase kinase (PhK).

AliasesPHKA1, PHKA, Phosphorylase kinase, alpha 1, phosphorylase kinase regulatory subunit alpha 1

External IDsOMIM: 311870; MGI: 97576; GeneCards: PHKA1

Chr.X chromosome (human)^[1]

End72,714,319 bp^[1]

Quick facts PHKA1, Identifiers ...

PHKA1
Identifiers
Aliases	PHKA1, PHKA, Phosphorylase kinase, alpha 1, phosphorylase kinase regulatory subunit alpha 1
External IDs	OMIM: 311870; MGI: 97576; GeneCards: PHKA1
Gene location (Human) Chr. X chromosome (human)[1] Band Xq13.1 Start 72,578,814 bp[1] End 72,714,319 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X D|X 45.47 cM Start 101,557,581 bp[2] End 101,687,852 bp[2]
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 Databases NCBI: entry; OMA: entry 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 [3] [4]
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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]^[5]

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