2. Gene
  3. PHKG1 - phosphorylase kinase catalytic subunit gamma 1 Gene

PHKG1 - phosphorylase kinase catalytic subunit gamma 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸化酶激酶催化亚基 γ 1

种属: Homo sapiens

同用名: PHKG

基因 ID: 5260 | 基因类型: protein coding

关于 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.

功能概要

该基因是 Ser/Thr 蛋白激酶家族的一员，编码一种具有一个蛋白激酶结构域和两个钙调蛋白结合结构域的蛋白质。该蛋白质是 16 亚基蛋白激酶复合物的催化成员，该复合物包含等摩尔比例的 4 种亚基类型。该复合物是一种重要的糖原分解调节酶。该基因在染色体 7q11.21 处有两个假基因，在染色体 11p11.12 处有一个假基因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2012 年 5 月]

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 基因产物(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 蛋白结构

Pkinase

Pkinase: Protein kinase domain (20 - 288)

  • 0
  • 100
  • 200
  • 300
  • 387 a.a.
蛋白主名 其他名称

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

PHK-gamma-M

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10440 PHKG1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS19730 Phkg1 Mouse Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS26226 Phkg1 Rat Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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