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  2. PHKG1 - phosphorylase kinase catalytic subunit gamma 1 Gene

PHKG1 - phosphorylase kinase catalytic subunit gamma 1 Gene

Homo sapiens

Also known as PHKG

Gene ID: 5260 | Gene type: protein coding

About PHKG1

Cytogenetic location: 7p11.2 Genomic coordinates (GRCh38): 7:56,080,295-56,092,952 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues, 22 paralogues and is associated with 1 phenotype. Ubiquitous expression in prostate (RPKM 8.4), thyroid (RPKM 7.9) and 25 other tissues.

Summary

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory Enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

PHKG1 Products(3)

mRNA Protein Name
NM_001258459.2 NP_001245388.1 phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform 1
NM_001258460.2 NP_001245389.1 phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform 3
NM_006213.5 NP_006204.1 phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform isoform 2

PHKG1 Protein Structure

Pkinase

Pkinase: Protein kinase domain (20 - 288)

  • 0
  • 100
  • 200
  • 300
  • 387 a.a.
Protein Preferred Names Protein Names

phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform

PHK-gamma-M

Recombinant PHKG1 Proteins

Cat. No. Product Name Accession Purity
HY-P75973 PHKG1 Protein, Human (sf9, GST) Q16816 (M1-Y387) ≥95%

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

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 Vi

Glycogen Storage Disease Type Vi

Hers Disease

GSD6

Gsd Vi

Hepatic Glycogen Phosphorylase Deficiency

Phosphorylase Deficiency Glycogen-Storage Disease Of Liver

Hers' Disease

Glycogen Storage Disease Type 6

Glycogen Storage Disease 6

Gsd Type Vi

Glycogenosis Type Vi

Glycogen Storage Disease, Type Vi

Hepatophosphorylase Deficiency Glycogenosis

Liver Phosphorylase Deficiency Syndrome

Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency

Gsd Due To Liver Glycogen Phosphorylase Deficiency

Gsd Type 6

Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency

Glycogenosis Type 6

Hepatic Phosphorylase Deficiency

Liver Glycogen Phosphorylase Deficiency

Her

Glycogen Storage Disease Vib

Gsd-Vi

Liver Phosphorylase Deficiency

Storage Disease, Glycogen, Type Vi

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PHKG1 RGD RGD:3325
Bos taurus PHKG1 VGNC VGNC:32833
Macaca mulatta PHKG1 VGNC VGNC:75980
Canis familiaris PHKG1 VGNC VGNC:44499
Felis catus PHKG1 VGNC VGNC:68828
Mus musculus PHKG1 MGD MGI:97579
Others PHKG1 NCBI