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  2. PDK3 - pyruvate dehydrogenase kinase 3 Gene

PDK3 - pyruvate dehydrogenase kinase 3 Gene

中文名称:丙酮酸脱氢酶激酶 3

种属: Homo sapiens

同用名: CMTX6; GS1-358P8.4

基因 ID: 5165 | 基因类型: protein coding

关于 PDK3

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:24,465,286-24,550,466 (from NCBI)

This gene has 6 transcripts (splice variants), 227 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.9), testis (RPKM 4.2) 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 CO (2) 的整体转化。它提供了糖酵解和三羧酸 (TCA) 循环之间的主要联系,因此是负责调节葡萄糖代谢的主要酶之一。 PDH 的酶活性受磷酸化/去磷酸化循环的调节,磷酸化导致 PDH 失活。该基因编码的蛋白质是三种丙酮酸脱氢酶激酶之一,可通过磷酸化 E1 α 亚基来抑制 PDH 复合物。该基因主要在心脏和骨骼肌中表达。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2010 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 CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major Enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

PDK3 基因产物(2)

mRNA Protein Name
NM_001142386.3 NP_001135858.1 pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor
NM_005391.5 NP_005382.1 pyruvate dehydrogenase kinase, isozyme 3 isoform 2 precursor

PDK3 蛋白结构

BCDHK_Adom3

BCDHK_Adom3: Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase (26 - 188)

HATPase_c

HATPase_c: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (237 - 359)

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  • 406 a.a.
蛋白主名 其他名称

pyruvate dehydrogenase kinase, isozyme 3

[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

CMTX6

Charcot-Marie-Tooth Disease X-Linked Dominant 6

Cmt6x

X-Linked Charcot-Marie-Tooth Disease Type 6

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6

Charcot-Marie-Tooth Neuropathy X-Linked 6

Charcot-Marie-Tooth Disease, X-Linked, Type 6

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus PDK3 VGNC VGNC:32705
Mus musculus PDK3 MGD MGI:2384308
Macaca mulatta PDK3 VGNC VGNC:75934
Canis familiaris PDK3 VGNC VGNC:44382
Felis catus PDK3 VGNC VGNC:68776
Rattus norvegicus PDK3 RGD RGD:1593276
Others PDK3 NCBI