PHKA1 (phosphorylase kinase regulatory subunit alpha 1)

2014-11-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
PHKA
FUSION GENES

Other Information

Locus ID:

NCBI: 5255
MIM: 311870
HGNC: 8925
Ensembl: ENSG00000067177

Variants:

dbSNP: 5255
ClinVar: 5255
TCGA: ENSG00000067177
COSMIC: PHKA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067177ENST00000339490P46020
ENSG00000067177ENST00000373539A6NMN0
ENSG00000067177ENST00000373542P46020
ENSG00000067177ENST00000373545A6NIT2
ENSG00000067177ENST00000541944P46020

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Insulin signaling pathwayKEGGko04910
Calcium signaling pathwayKEGGhsa04020
Insulin signaling pathwayKEGGhsa04910
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184010272008Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?12
128763302003Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.10
222384102012Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?7

Citation

Dessen P

PHKA1 (phosphorylase kinase regulatory subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71887/phka1