2. Gene
  3. PHKB - phosphorylase kinase regulatory subunit beta Gene

PHKB - phosphorylase kinase regulatory subunit beta Gene

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

中文名称：磷酸化酶激酶调节亚基β

种属: Homo sapiens

基因 ID: 5257 | 基因类型: protein coding

关于 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.

功能概要

磷酸化酶激酶是 16 个亚基的聚合物，α、β、γ 和 δ 各有四个。 α 亚基包括骨骼肌和肝脏亚型，由两个不同的基因编码。 β 亚基在肌肉和肝脏亚型中是相同的，由该基因编码，是磷酸化酶 b 激酶调节亚基家族的成员。 γ 亚基还包括由两个不同基因编码的骨骼肌和肝脏亚型。 δ亚基是一种钙调蛋白，可由三种不同的基因编码。 γ 亚基包含酶的活性位点，而 α 和 β 亚基具有受磷酸化控制的调节功能。 δ亚基介导酶对钙浓度的依赖性。该基因的突变会导致糖原贮积病 9B 型，也称为肝脏和肌肉磷酸化酶激酶缺乏症。已在该基因中鉴定出编码不同亚型的可变剪接转录物变体。分别在 14 号和 20 号染色体上发现了两个假基因。[RefSeq 提供，2010 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21418524 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PHKB 蛋白结构

Glyco_hydro_15

Glyco_hydro_15: Glycosyl hydrolases family 15 (48 - 878)

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  • 1093 a.a.
蛋白主名 其他名称

phosphorylase b kinase regulatory subunit beta

phosphorylase kinase beta-subunit

PHKB 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10439 PHKB Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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