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  2. ECSIT - ECSIT signaling integrator Gene

ECSIT - ECSIT signaling integrator Gene

中文名称:ECSIT 信令集成商

种属: Homo sapiens

同用名: SITPEC

基因 ID: 51295 | 基因类型: protein coding

关于 ECSIT

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,505,929-11,529,134 (from NCBI)

This gene has 20 transcripts (splice variants) and 192 orthologues. Ubiquitous expression in heart (RPKM 25.2), ovary (RPKM 18.4) and 25 other tissues.

功能概要

预测启用 DNA 结合转录因子活性和染色质结合活性。参与氧化还原酶活性的调节和蛋白质复合物稳定性的调节。位于胞质溶胶中;线粒体;和核质。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable DNA-binding transcription factor activity and chromatin binding activity. Involved in regulation of oxidoreductase activity and regulation of protein complex stability. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ECSIT 基因产物(4)

mRNA Protein Name
NM_001142464.3 NP_001135936.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 2 precursor
NM_001142465.3 NP_001135937.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 3 precursor
NM_001243204.2 NP_001230133.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 4 precursor
NM_016581.5 NP_057665.2 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 1 precursor
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 molecular adaptor activity IDA
IDA: 通过直接分析推断
25371197 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17344420 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of oxidoreductase activity IDA
IDA: 通过直接分析推断
17344420 GOA
involved in regulation of protein complex stability IDA
IDA: 通过直接分析推断
17344420 GOA
involved in toll-like receptor 4 signaling pathway IDA
IDA: 通过直接分析推断
25371197 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
17344420 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
17344420 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17344420 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

ECSIT 蛋白结构

ECSIT

ECSIT: Evolutionarily conserved signalling intermediate in Toll pathway (40 - 267)

ECSIT_C

ECSIT_C: C-terminal domain of the ECSIT protein (269 - 393)

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

evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

ECSIT homolog

重组 ECSIT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76311 ECSIT Protein, Human (His) Q9BQ95-1 (E246-S431) ≥95%

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency

Acad9 Deficiency

MC1DN20

Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

Nuclear Type Mitochondrial Complex I Deficiency 20

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn

Mitochondrial Complex I Deficiency, Nuclear Type

Mitochondrial Complex I Deficiency, Nuclear

Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3

FHL3

Hplh3

Hlh3

Lymphohistiocytosis, Hemophagocytic, Familial, Type 3

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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
Felis catus ECSIT VGNC VGNC:61715
Mus musculus ECSIT MGD MGI:1349469
Rattus norvegicus ECSIT RGD RGD:1359488
Macaca mulatta ECSIT VGNC VGNC:72142
Canis familiaris ECSIT VGNC VGNC:40188
Bos taurus ECSIT VGNC VGNC:28313
Others ECSIT NCBI