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  2. ECSIT - ECSIT signaling integrator Gene

ECSIT - ECSIT signaling integrator Gene

Homo sapiens

Also known as SITPEC

Gene ID: 51295 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
25371197 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17344420 GOA
Biological Process GO Annotation Evidence Reference Source
involved in regulation of oxidoreductase activity IDA
IDA: Inferred from direct assay
17344420 GOA
involved in regulation of protein complex stability IDA
IDA: Inferred from direct assay
17344420 GOA
involved in toll-like receptor 4 signaling pathway IDA
IDA: Inferred from direct assay
25371197 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17344420 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
17344420 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17344420 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ECSIT Protein Structure

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
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  • 400
  • 431 a.a.
Protein Preferred Names Protein Names

evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

ECSIT homolog

Recombinant ECSIT Proteins

Cat. No. Product Name Accession Purity
HY-P76311 ECSIT Protein, Human (His) Q9BQ95-1 (E246-S431) ≥95%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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