PHKG1 - phosphorylase kinase catalytic subunit gamma 1 Gene

Also Known as PHKG

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 5260

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

関連疾患

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-186224 GW296115 / Unkown
HY-RS10440 PHKG1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19730 Phkg1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26226 Phkg1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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