Phosphorylase kinase, alpha 1

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PHKA1
Identifiers
AliasesPHKA1, PHKA, Phosphorylase kinase, alpha 1, phosphorylase kinase regulatory subunit alpha 1
External IDsMGI: 97576 HomoloGene: 1981 GeneCards: PHKA1
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for PHKA1
Genomic location for PHKA1
BandXq13.1Start72,578,814 bp[1]
End72,714,319 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr X: 102.51 – 102.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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).

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).

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000067177 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034055 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: PHKA1 phosphorylase kinase, alpha 1 (muscle)".

Further reading[edit]

External links[edit]