1. Gene
  2. DPH5 - diphthamide biosynthesis 5 Gene

DPH5 - diphthamide biosynthesis 5 Gene

中文名称:双苯二甲胺生物合成 5

种属: Homo sapiens

同用名: AD-018; CGI-30; NEDSFF; NPD015; HSPC143

基因 ID: 51611 | 基因类型: protein coding

关于 DPH5

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,989,623-101,025,784 (from NCBI)

This gene has 16 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 15.2), thyroid (RPKM 9.2) and 25 other tissues.

功能概要

该基因编码双苯二胺合成途径的一个组成部分。 Diphthamide 是一种翻译后修饰的组氨酸残基,仅在翻译延伸因子 2 上发现。从古细菌到人类,它都是保守的,并且是白喉毒素和假单胞菌外毒素 A 的目标,可阻止细胞蛋白质合成。该蛋白质的酵母和中国仓鼠同系物催化组氨酸残基在延伸因子 2 上的三甲基化,产生二萘部分,随后酰胺化产生二苯甲酰胺。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DPH5 基因产物(3)

mRNA Protein Name
NM_001077394.2 NP_001070862.1 diphthine methyl ester synthase isoform a
NM_001077395.2 NP_001070863.1 diphthine methyl ester synthase isoform b
NM_015958.3 NP_057042.2 diphthine methyl ester synthase isoform a
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 diphthine methyl ester synthase activity EXP
EXP: 通过实验结果推断
3346227 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

DPH5 蛋白结构

TP_methylase

TP_methylase: Tetrapyrrole (Corrin/Porphyrin) Methylases (1 - 239)

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

diphthine methyl ester synthase

DPH5 homolog

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties

NEDSFF

Diphtheria

Corynebacterium Infections

Corynebacterium Infection

Diphtherial Infection

Infection Due To Corynebacterium Diphtheriae

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria

Dpys Deficiency

Dph Deficiency

DPYSD

Dihydrouracil Amidohydrolase Deficiency

Dihydropyrimidinuria Due To Dpys Deficiency

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

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
Rattus norvegicus DPH5 RGD RGD:1307867
Felis catus DPH5 VGNC VGNC:107526
Macaca mulatta DPH5 VGNC VGNC:71893
Bos taurus DPH5 VGNC VGNC:28180
Mus musculus DPH5 MGD MGI:1916990
Canis familiaris DPH5 VGNC VGNC:40069