PHKA1 - phosphorylase kinase regulatory subunit alpha 1 Gene

Homo sapiens

Also known as PHKA

Gene ID: 5255 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10437	PHKA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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