1. Gene
  2. DPH7 - diphthamide biosynthesis 7 Gene

DPH7 - diphthamide biosynthesis 7 Gene

中文名称:双苯二甲胺生物合成 7

种属: Homo sapiens

同用名: RRT2; WDR85; C9orf112

基因 ID: 92715 | 基因类型: protein coding

关于 DPH7

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:137,554,444-137,578,925 (from NCBI)

This gene has 14 transcripts (splice variants) and 168 orthologues. Ubiquitous expression in testis (RPKM 4.1), spleen (RPKM 3.9) and 25 other tissues.

功能概要

Diphthamide 是存在于延伸因子 2 中的翻译后修饰的组氨酸残基,是白喉毒素的靶标。该基因编码一种含有 WD-40 结构域的蛋白质,被认为与双苯二甲胺的生物合成有关。酵母中的一种类似蛋白质起着甲酯酶的作用,将甲基化的联萘转化为联萘,然后可以进行酰胺化以产生联苯二甲胺。[RefSeq 提供,2016 年 10 月]

Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]

DPH7 基因产物(28)

mRNA Protein Name
NM_001346370.2 NP_001333299.1 diphthine methyltransferase isoform b
NM_001346371.2 NP_001333300.1 diphthine methyltransferase isoform c
NM_001346372.2 NP_001333301.1 diphthine methyltransferase isoform d
NM_001346373.2 NP_001333302.1 diphthine methyltransferase isoform e
NM_001346374.2 NP_001333303.1 diphthine methyltransferase isoform f
NM_001346375.2 NP_001333304.1 diphthine methyltransferase isoform g
NM_001346376.2 NP_001333305.1 diphthine methyltransferase isoform g
NM_001346377.2 NP_001333306.1 diphthine methyltransferase isoform g
NM_001346378.2 NP_001333307.1 diphthine methyltransferase isoform g
NM_001346379.2 NP_001333308.1 diphthine methyltransferase isoform g
NM_001346380.2 NP_001333309.1 diphthine methyltransferase isoform g
NM_001346381.2 NP_001333310.1 diphthine methyltransferase isoform g
NM_001346382.2 NP_001333311.1 diphthine methyltransferase isoform g
NM_001346383.2 NP_001333312.1 diphthine methyltransferase isoform g
NM_001346384.2 NP_001333313.1 diphthine methyltransferase isoform g
NM_001346385.2 NP_001333314.1 diphthine methyltransferase isoform g
NM_001346386.2 NP_001333315.1 diphthine methyltransferase isoform g
NM_001346387.2 NP_001333316.1 diphthine methyltransferase isoform g
NM_001346388.2 NP_001333317.1 diphthine methyltransferase isoform g
NM_001346389.2 NP_001333318.1 diphthine methyltransferase isoform g
NM_001346390.2 NP_001333319.1 diphthine methyltransferase isoform g
NM_001346391.2 NP_001333320.1 diphthine methyltransferase isoform g
NM_001346392.2 NP_001333321.1 diphthine methyltransferase isoform g
NM_001346393.2 NP_001333322.1 diphthine methyltransferase isoform h
NM_001346394.2 NP_001333323.1 diphthine methyltransferase isoform h
NM_001346395.2 NP_001333324.1 diphthine methyltransferase isoform h
NM_001346396.2 NP_001333325.1 diphthine methyltransferase isoform h
NM_138778.5 NP_620133.1 diphthine methyltransferase isoform a
基因本体论
  • 分子功能
  • 生物过程
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
21750715 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein histidyl modification to diphthamide IMP
IMP: 通过突变表型推断
19965467 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

DPH7 蛋白结构

WD40

WD40: WD domain, G-beta repeat (230 - 268)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 452 a.a.
蛋白主名 其他名称

diphthine methyltransferase

WD repeat-containing protein 85

关联疾病

疾病名称 别名
Diphtheria

Corynebacterium Infections

Corynebacterium Infection

Diphtherial Infection

Infection Due To Corynebacterium Diphtheriae

Gaucher Disease, Type Iiic

Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome

Gaucher-Like Disease

GD3C

Gaucher'S Disease Type Iiic

Cardiovascular Gaucher Disease

Gaucher Disease Type 3c

Gaucher Disease 3c

Pseudo-Gaucher Disease

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type

Gd Iii

Gaucher Disease, Chronic Neuronopathic Type

Gaucher Disease, Juvenile And Adult, Cerebral

Gaucher Disease Type 3

GD3

Gaucher'S Disease Type Iii

Gaucher Disease Type Iii

Gd 3

Cerebral Juvenile And Adult Form Of Gaucher Disease

Chronic Neuronopathic Gaucher Disease

Gaucher Disease 3

Cerebral, Juvenile And Adult, Gaucher Disease

Gaucher Disease Chronic Neuronopathic Type

Gaucher Disease Type Ii

Subacute Neuronopathic Gaucher Disease

Type 3 Gaucher Disease

Gaucher Disease, Type 3

Gaucher Disease, Type 2

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
Canis familiaris DPH7 VGNC VGNC:53234
Rattus norvegicus DPH7 RGD RGD:1304868
Mus musculus DPH7 MGD MGI:1914478
Macaca mulatta DPH7 VGNC VGNC:71904
Bos taurus DPH7 VGNC VGNC:28182
Felis catus DPH7 VGNC VGNC:61599