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  2. PIDD1 - p53-induced death domain protein 1 Gene

PIDD1 - p53-induced death domain protein 1 Gene

中文名称:p53 诱导的死亡域蛋白 1

种属: Homo sapiens

同用名: LRDD; PIDD; MRT75

基因 ID: 55367 | 基因类型: protein coding

关于 PIDD1

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:799,184-809,501 (from NCBI)

This gene has 11 transcripts (splice variants), 116 orthologues, 31 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.7), spleen (RPKM 3.6) and 25 other tissues.

功能概要

该基因编码的蛋白质包含一个富含亮氨酸的重复序列和一个死亡域。该蛋白已被证明与其他死亡结构域蛋白相互作用,例如通过死亡结构域相关的 Fas (TNFRSF6) (FADD) 和 MAP 激酶激活死亡结构域蛋白 (MADD) ,因此可能作为衔接蛋白在细胞死亡相关的信号过程。已经发现该基因的小鼠对应物的表达受肿瘤抑制因子 p53 的正向调节,并诱导细胞凋亡以响应 DNA 损伤,这表明该基因作为 p53 依赖性细胞凋亡的效应子的作用。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 8 月]

The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with Other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell Apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent Apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

PIDD1 基因产物(2)

mRNA Protein Name
NM_145886.4 NP_665893.2 p53-induced death domain-containing protein 1 isoform 1
NM_145887.4 NP_665894.2 p53-induced death domain-containing protein 1 isoform 3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables endopeptidase activity IDA
IDA: 通过直接分析推断
17159900 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15073321 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17159900 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
21726810 GOA
part of endopeptidase complex IPI
IPI: 通过物理相互作用推断
15073321 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17159900 GOA
located in nucleus IMP
IMP: 通过突变表型推断
21726810 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

PIDD1 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (126 - 183)

LRR_8

LRR_8: Leucine rich repeat (195 - 252)

LRR_1

LRR_1: Leucine Rich Repeat (265 - 283)

ZU5

ZU5: ZU5 domain (339 - 416)

Peptidase_S68

Peptidase_S68: Peptidase S68 (421 - 454)

ZU5

ZU5: ZU5 domain (469 - 537)

Death

Death: Death domain (796 - 871)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 910 a.a.
蛋白主名 其他名称

p53-induced death domain-containing protein 1

leucine-rich repeat and death domain-containing protein

PIDD1 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
种属内
PIDD1 Q9HB75 CRADD Homo sapiens P78560 15073321
种属内
PIDD1 Q9HB75 CRADD Homo sapiens P78560
IF
16652156
种属内
PIDD1 Q9HB75 CRADD Homo sapiens P78560 17159900
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
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly

MRT75

Megalencephaly

Macroencephaly

Macrencephaly

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

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
Macaca mulatta PIDD1 VGNC VGNC:81498
Rattus norvegicus PIDD1 RGD RGD:1311792
Mus musculus PIDD1 MGD MGI:1889507
Canis familiaris PIDD1 VGNC VGNC:44527
Bos taurus PIDD1 VGNC VGNC:32863
Felis catus PIDD1 VGNC VGNC:81960