2. Gene
  3. DEDD - death effector domain containing Gene

DEDD - death effector domain containing Gene

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

中文名称：含死亡效应域

种属: Homo sapiens

同用名: DEFT; KE05; DEDD1; FLDED1; CASP8IP1

基因 ID: 9191 | 基因类型: protein coding

关于 DEDD

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,120,974-161,132,667 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 12.8), placenta (RPKM 9.3) and 25 other tissues.

功能概要

该基因编码一种包含死亡效应域 (DED) 的蛋白质。 DED 是由程序性细胞死亡途径的适配器、调节器和执行器共享的蛋白质-蛋白质相互作用结构域。显示该基因的过表达诱导微弱的细胞凋亡。刺激后，发现这种蛋白质从细胞质转移到细胞核，并与核仁中的 UBTF 共定位，UBTF 是 RNA 聚合酶 I 转录所需的基础因子。已为该基因发现至少三种编码相同蛋白质的转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak Apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

DEDD 基因产物(4)

mRNA Protein Name
NM_001039711.2 NP_001034800.1 death effector domain-containing protein isoform b
NM_001039712.2 NP_001034801.1 death effector domain-containing protein isoform b
NM_001330765.2 NP_001317694.1 death effector domain-containing protein isoform a
NM_032998.3 NP_127491.1 death effector domain-containing protein isoform b
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 protein binding IPI
IPI: 通过物理相互作用推断
15688372 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

DEDD 蛋白结构

DED

DED: Death effector domain (26 - 109)

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

death effector domain-containing protein

DEDPro1

DEDD 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 DEDD O75618 APLP2 Homo sapiens Q06481
Display Tech
20195357
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
Arthrogryposis, Distal, Type 10

DA10

Distal Arthrogryposis Type 10

Short Achilles Tendon

Plantar Flexion Contracture

Short Tendo Calcaneus

Congenital Plantar Contractures

Tendo Calcaneus, Short
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03669 DEDD Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS03670 DEDD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DEDD VGNC VGNC:71768
Mus musculus DEDD MGD MGI:1333874
Rattus norvegicus DEDD RGD RGD:620050
Bos taurus DEDD VGNC VGNC:27984
Canis familiaris DEDD VGNC VGNC:39872
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