1. Gene
  2. DPH6 - diphthamine biosynthesis 6 Gene

DPH6 - diphthamine biosynthesis 6 Gene

中文名称:苯二胺生物合成 6

种属: Homo sapiens

同用名: ATPBD4

基因 ID: 89978 | 基因类型: protein coding

关于 DPH6

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:35,144,977-35,546,165 (from NCBI)

This gene has 9 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in thyroid (RPKM 1.3), ovary (RPKM 0.9) and 25 other tissues.

功能概要

启用二萘氨连接酶活性。预测参与肽基-组氨酸的肽基-双苯二甲胺生物合成过程。位于核仁和核质中。 [由基因组资源联盟提供,2022 年 4 月]

Enables diphthine-ammonia Ligase activity. Predicted to be involved in peptidyl-diphthamide biosynthetic process from peptidyl-histidine. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

DPH6 基因产物(2)

mRNA Protein Name
NM_001141972.2 NP_001135444.1 diphthine--ammonia ligase isoform 2
NM_080650.4 NP_542381.1 diphthine--ammonia ligase isoform 1
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-ammonia ligase activity EXP
EXP: 通过实验结果推断
23169644 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

DPH6 蛋白结构

Diphthami_syn_2

Diphthami_syn_2: Diphthamide synthase (1 - 229)

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

diphthine--ammonia ligase

ATP binding domain 4

关联疾病

疾病名称 别名
Spastic Paraplegia 11, Autosomal Recessive

SPG11

Hereditary Spastic Paraplegia 11

Hsp-Tcc

Autosomal Recessive Spastic Paraplegia Type 11

Nakamura-Osame Syndrome

Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome

Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum

Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia 11

Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum

Arhsp-Tcc

Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum

Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum

Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum

Paraplegia, Spastic, Autosomal Recessive, Type 11

Nakamura Osame Syndrome

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

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
Mus musculus DPH6 MGD MGI:1913882
Rattus norvegicus DPH6 RGD RGD:1310006
Canis familiaris DPH6 VGNC VGNC:58300
Felis catus DPH6 VGNC VGNC:61598
Macaca mulatta DPH6 VGNC VGNC:72006
Bos taurus DPH6 VGNC VGNC:28181