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  2. CASP8AP2 - caspase 8 associated protein 2 Gene

CASP8AP2 - caspase 8 associated protein 2 Gene

中文名称:半胱天冬酶 8 相关蛋白 2

种属: Homo sapiens

同用名: CED-4; FLASH; RIP25

基因 ID: 9994 | 基因类型: protein coding

关于 CASP8AP2

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,829,880-89,874,436 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 203 orthologues. Ubiquitous expression in lymph node (RPKM 5.6), testis (RPKM 4.6) and 25 other tissues.

功能概要

这种蛋白质与 FLASH 高度相似,FLASH 是一种通过与半胱天冬酶 8 的死亡效应域 (DED) 相互作用而鉴定的小鼠凋亡蛋白。对 FLASH 蛋白质的研究表明,这种蛋白质可能是死亡诱导信号复合物的一个组成部分,包括 Fas 受体、Fas 结合接头 FADD 和半胱天冬酶 8,并在 Fas 介导的细胞凋亡中发挥调节作用。可变剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供,2008 年 11 月]

This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of Caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and Caspase 8, and plays a regulatory role in Fas-mediated Apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]

CASP8AP2 基因产物(3)

mRNA Protein Name
NM_001137667.2 NP_001131139.1 CASP8-associated protein 2
NM_001137668.2 NP_001131140.1 CASP8-associated protein 2
NM_012115.4 NP_036247.1 CASP8-associated protein 2
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 SUMO polymer binding IDA
IDA: 通过直接分析推断
23086935 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12477726 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
12477726 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Fas signaling pathway IMP
IMP: 通过突变表型推断
17245429 GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: 通过突变表型推断
17245429 GOA
involved in cellular response to mechanical stimulus IEP
IEP: 通过表达模式推断
19593445 GOA
involved in extrinsic apoptotic signaling pathway via death domain receptors IMP
IMP: 通过突变表型推断
17245429 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
17245429 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12477726 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
17245429 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12477726 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
蛋白主名 其他名称

CASP8-associated protein 2

FLASH homolog RIP25

CASP8AP2 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
CASP8AP2 Q9UKL3 PIAS1 Homo sapiens O75925 21338522
种属内
CASP8AP2 Q9UKL3 PIAS1 Homo sapiens O75925
Y2H
21338522
种属内
CASP8AP2 Q9UKL3 SP100 Homo sapiens P23497 17245429
种属内
CASP8AP2 Q9UKL3 SP100 Homo sapiens P23497
Y2H
17245429
种属内
CASP8AP2 Q9UKL3 CASP8 Homo sapiens Q14790 17245429
种属内
CASP8AP2 Q9UKL3 CASP8 Homo sapiens Q14790 17245429
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
Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

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
Bos taurus CASP8AP2 VGNC VGNC:26785
Rattus norvegicus CASP8AP2 RGD RGD:1305771
Felis catus CASP8AP2 VGNC VGNC:60385
Macaca mulatta CASP8AP2 VGNC VGNC:70548
Canis familiaris CASP8AP2 VGNC VGNC:38737
Mus musculus CASP8AP2 MGD MGI:1349399