PHKB - phosphorylase kinase regulatory subunit beta Gene

Homo sapiens

Gene ID: 5257 | Gene type: protein coding

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

PHKB Protein Structure

Glyco_hydro_15

0
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1093 a.a.

Protein Preferred Names

Protein Names

phosphorylase b kinase regulatory subunit beta

phosphorylase kinase beta-subunit

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10439	PHKB Human Pre-designed siRNA Set A		/	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