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Phosphorylase kinase, alpha 1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
PHKA1
Identifiers
AliasesPHKA1, PHKA, Phosphorylase kinase, alpha 1, phosphorylase kinase regulatory subunit alpha 1
External IDsOMIM:311870;MGI:97576;HomoloGene:1981;GeneCards:PHKA1;OMA:PHKA1 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for PHKA1
Genomic location for PHKA1
BandXq13.1Start72,578,814bp[1]
End72,714,319bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for PHKA1
Genomic location for PHKA1
BandX D|X 45.47 cMStart101,557,581bp[2]
End101,687,852bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr X: 101.56 – 101.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is anenzyme that in humans is encoded by thePHKA1gene.[5] It is themuscleisoform ofPhosphorylase 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 causesglycogen storage disease type IXd (GSD 9D).

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000067177 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000034055 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ab"Entrez Gene: PHKA1 phosphorylase kinase, alpha 1 (muscle)".

Further reading

[edit]

External links

[edit]
Non-specific serine/threonine protein kinases (EC 2.7.11.1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4)
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)
Myosin-heavy-chain kinase (EC 2.7.11.7)
Fas-activated serine/threonine kinase (EC 2.7.11.8)
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)
  • -
IκB kinase (EC 2.7.11.10)
cAMP-dependent protein kinase (EC 2.7.11.11)
cGMP-dependent protein kinase (EC 2.7.11.12)
Protein kinase C (EC 2.7.11.13)
Rhodopsin kinase (EC 2.7.11.14)
Beta adrenergic receptor kinase (EC 2.7.11.15)
G-protein coupled receptor kinases (EC 2.7.11.16)
Ca2+/calmodulin-dependent (EC 2.7.11.17)
Myosin light-chain kinase (EC 2.7.11.18)
Phosphorylase kinase (EC 2.7.11.19)
Elongation factor 2 kinase (EC 2.7.11.20)
Polo kinase (EC 2.7.11.21)
Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)
Polo kinase (EC 2.7.11.21)
Cyclin-dependent kinase (EC 2.7.11.22)
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)
Mitogen-activated protein kinase (EC 2.7.11.24)
MAP3K (EC 2.7.11.25)
Tau-protein kinase (EC 2.7.11.26)
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)
  • -
Tropomyosin kinase (EC 2.7.11.28)
  • -
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)
  • -
Receptor protein serine/threonine kinase (EC 2.7.11.30)
MAP2K
Activity
Regulation
Classification
Kinetics
Types
Portal:


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