2. Gene
  3. PDHB - pyruvate dehydrogenase E1 subunit beta Gene

PDHB - pyruvate dehydrogenase E1 subunit beta Gene

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

中文名称：丙酮酸脱氢酶 E1 亚基 β

种属: Homo sapiens

同用名: PDHBD; PHE1B; E1beta; PDHE1B; PDHE1-B

基因 ID: 5162 | 基因类型: protein coding

关于 PDHB

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,427,630-58,433,832 (from NCBI)

This gene has 10 transcripts (splice variants), 224 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 43.5) and 25 other tissues.

功能概要

丙酮酸脱氢酶 (PDH) 复合物是一种核编码的线粒体多酶复合物，可催化丙酮酸向乙酰辅酶 A 和二氧化碳的整体转化，并提供糖酵解和三羧酸 (TCA) 循环之间的主要联系。 PDH 复合物由三种酶成分的多个拷贝组成：丙酮酸脱氢酶 (E1) 、二氢硫辛酰胺乙酰转移酶 (E2) 和硫辛酰胺脱氢酶 (E3) 。 E1 酶是两个 α 和两个 β 亚基的异四聚体。该基因编码 E1 β 亚基。该基因的突变与丙酮酸脱氢酶 E1-β 缺乏症有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 3 月]

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 Enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

PDHB 基因产物(3)

mRNA Protein Name
NM_000925.4 NP_000916.2 pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor
NM_001173468.2 NP_001166939.1 pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 2 precursor
NM_001315536.2 NP_001302465.1 pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
12651851 GOA
contributes to pyruvate dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
18164639 GOA
contributes to pyruvate dehydrogenase (acetyl-transferring) activity IDA
IDA: 通过直接分析推断
19081061 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acetyl-CoA biosynthetic process from pyruvate IDA
IDA: 通过直接分析推断
19081061 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in mitochondrion IDA
IDA: 通过直接分析推断
19081061 GOA
part of pyruvate dehydrogenase complex IDA
IDA: 通过直接分析推断
19081061 GOA
part of pyruvate dehydrogenase complex IPI
IPI: 通过物理相互作用推断
19240034 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

PDHB 蛋白结构

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (33 - 206)

Transketolase_C

Transketolase_C: Transketolase, C-terminal domain (226 - 348)

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

pyruvate dehydrogenase E1 component subunit beta, mitochondrial

epididymis secretory sperm binding protein

PDHB 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 PDHB P11177 DLAT Homo sapiens P10515
Anti Tag CoIP
33961781
Intra PDHB P11177 DLAT Homo sapiens P10515
SPR
18206651
Intra PDHB P11177 PDHA1 Homo sapiens P08559
Anti Tag CoIP
33961781
Intra PDHB P11177 PDHA1 Homo sapiens P08559
X-Ray Diffraction
12651851
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
Pyruvate Dehydrogenase E1-Beta Deficiency

PDHBD

Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency

Pdh Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2
Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy
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-RS10263 PDHB Human 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 PDHB RGD RGD:1359146
Mus musculus PDHB MGD MGI:1915513
Macaca mulatta PDHB VGNC VGNC:75931
Felis catus PDHB VGNC VGNC:68774
Bos taurus PDHB VGNC VGNC:49151
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