PHKA1 - phosphorylase kinase regulatory subunit alpha 1 Gene

Also Known as PHKA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5255

About PHKA1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:72,578,814-72,714,306 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 5.8), thyroid (RPKM 4.1) and 24 other tissues.

Summary

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a Calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]

PHKA1 Products (3)

mRNA	Protein	Name
NM_001122670.2	NP_001116142.1	phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2
NM_001172436.2	NP_001165907.1	phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 3
NM_002637.4	NP_002628.2	phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of glycogen catabolic process	IMP IMP: Inferred from mutant phenotype	33799212	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHKA1 Protein Structure

Glyco_hydro_15

0
200
400
600
800
1000
1223 a.a.

Protein Preferred Names	Protein Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform	phosphorylase kinase alpha M subunit

Related Diseases

Diseases	Alias
Glycogen Storage Disease Ixd	GSD9D Gsd Ixd Muscle Phosphorylase Kinase Deficiency Muscle Glycogenosis Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease Type 9d Glycogen Storage Disease Type 9e Glycogen Storage Disease Type Ixd Glycogen Storage Disease Type Ixe Glycogenosis Due To Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9d Glycogenosis Type 9e Glycogenosis Type Ixd Glycogenosis Type Ixe Gsd Due To Muscle Phosphorylase Kinase Deficiency Gsd Type 9d Gsd Type 9e Gsd Type Ixd Gsd Type Ixe Muscle Glycogenosis, X-Linked X-Linked Muscke Glycogenosis Glycogen Storage Disease 9d X-Linked Muscle Glycogenosis Storage Disease, Glycogen, Type Ixd
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Glycogen Storage Disease Viii	Glycogen Storage Disease Type Viii Glycogenosis Type Viii Glycogen Storage Disease 8 Hepatic Glycogen Phosphorylase Kinase Deficiency Glycogenosis Type 8 Hepatic Phosphorylase Kinase Deficiency Pykl Phosphorylase Kinase Deficiency Of Liver Glycogen Storage Disease, Type Ix
Glycogen Storage Disease Ix
Phosphorylase Kinase Deficiency	Glycogen Storage Disease Type Ix Gsdix Phk Deficiency Phosphorylase B Kinase Deficiency Gsd Ix Glycogen Storage Disease, Type Ix Deficiency Of Phosphorylase Kinase
Glycogen Storage Disease Ixb	GSD9B Gsd Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Type 9b Glycogen Storage Disease Type Ixb Glycogenosis Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogenosis Type 9b Glycogenosis Type Ixb Gsd Due To Liver And Muscle Phosphorylase Kinase Deficiency Gsd Type 9b Gsd Type Ixb Glycogenosis Of Liver And Muscle, Autosomal Recessive Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency Glycogen Storage Disease 9b Gsd-Ixb Phosphorylase Kinase Deficiency Of Liver And Muscle Storage Disease, Glycogen, Type Ixb
Myoglobinuria
Glycogen Storage Disease Ixa	Glycogen Storage Disease Type 9a Glycogen Storage Disease Type Ixa Glycogenosis Type 9a Glycogenosis Type Ixa Gsd Type 9a Gsd Type Ixa Gsd9a
Glycogen Storage Disease V	Mcardle Disease Myophosphorylase Deficiency Glycogen Storage Disease Type V Muscle Glycogen Phosphorylase Deficiency Pygm Deficiency Gsd V Glycogen Storage Disease, Type V Glycogenosis Type V Glycogen Storage Disease Type 5 GSD5 Pygmy Mcardle'S Disease Mcardle Type Glycogen Storage Disease Gsd Type V Pygmy, African Gsdv Gsd 5 Glycogenosis 5 Mcardle Syndrome Muscle Phosphorylase Deficiency Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency Gsd Due To Muscle Glycogen Phosphorylase Deficiency Gsd Type 5 Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency Glycogenosis Type 5 Glycogen Storage Disease 5 Gsd-V Mcardles Disease Storage Disease, Glycogen, Type V
Glycogen Storage Disease Iii	Glycogen Storage Disease Type Iii Forbes Disease Cori Disease Glycogen Storage Disease Iiia Amylo-1,6-Glucosidase Deficiency Glycogen Storage Disease Iiib Limit Dextrinosis GSD3 Agl Deficiency Glycogen Debrancher Deficiency Gde Deficiency Glycogen Storage Disease Iiic Debrancher Deficiency Glycogen Storage Disease Type 3 Glycogenosis Type Iii Glycogen Storage Disease Iiid Amylo 1,6 Glucosidase Deficiency Deficiency Of Debranching Enzyme Deficiency Of Dextrin Glycogen Storage Disease, Type Iii Glycogen Debranching Enzyme Deficiency Cori'S Disease Gsd Iii Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency Cori-Forbes Disease Gsd Due To Glycogen Debranching Enzyme Deficiency Gsd Type 3 Gsdiii Glycogenosis Due To Glycogen Debranching Enzyme Deficiency Glycogenosis Type 3 Glycogen Storage Disease 3 Glycogen Debranching Enzyme Deficiency Gsd-Iii Gsd Iiia Gsd Iiib Gsd Iiic Gsd Iiid Storage Disease, Glycogen, Type Iii
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10437	PHKA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22726	Phka1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29240	Phka1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PHKA1	VGNC	VGNC:32830
Macaca mulatta	PHKA1	VGNC	VGNC:75977
Rattus norvegicus	PHKA1	RGD	RGD:621522
Felis catus	PHKA1	VGNC	VGNC:68825
Mus musculus	PHKA1	MGD	MGI:97576
Canis familiaris	PHKA1	VGNC	VGNC:44496
Others	PHKA1	NCBI