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PHKB - phosphorylase kinase regulatory subunit beta Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5257

About PHKB

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:47,461,299-47,701,523 (from NCBI)

This gene has 19 transcripts (splice variants), 233 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 18.4), adrenal (RPKM 12.6) and 25 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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the Phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as Phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]

PHKB Products (3)

mRNA	Protein	Name
NM_000293.3	NP_000284.1	phosphorylase b kinase regulatory subunit beta isoform a
NM_001031835.3	NP_001027005.1	phosphorylase b kinase regulatory subunit beta isoform b
NM_001363837.1	NP_001350766.1	phosphorylase b kinase regulatory subunit beta isoform c

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21418524	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

PHKB Protein Structure

Glyco_hydro_15

0
200
400
600
800
1000
1093 a.a.

Protein Preferred Names	Protein Names
phosphorylase b kinase regulatory subunit beta	phosphorylase kinase beta-subunit

PHKB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHKB	Q93100	PASK	Homo sapiens	Q96RG2	Peptide Array	21418524
Intra	PHKB	Q93100	CAMK2B	Homo sapiens	Q13554	Y2H Prey Pooling	25416956
Intra	PHKB	Q93100	CAMK2B	Homo sapiens	Q13554	Validated Y2H	25416956
Intra	PHKB	Q93100	CAMK2B	Homo sapiens	Q13554	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
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	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 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 Ix
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 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

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-RS10439	PHKB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22278	Phkb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28801	Phkb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PHKB	VGNC	VGNC:68827
Bos taurus	PHKB	VGNC	VGNC:32832
Mus musculus	PHKB	MGD	MGI:97578
Macaca mulatta	PHKB	VGNC	VGNC:75979
Canis familiaris	PHKB	VGNC	VGNC:44498
Rattus norvegicus	PHKB	RGD	RGD:620186
Others	PHKB	NCBI