ECSIT (ECSIT signaling integrator)

2019-05-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
SITPEC
FUSION GENES

Other Information

Locus ID:

NCBI: 51295
MIM: 608388
HGNC: 29548
Ensembl: ENSG00000130159

Variants:

dbSNP: 51295
ClinVar: 51295
TCGA: ENSG00000130159
COSMIC: ECSIT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130159ENST00000252440Q9BQ95
ENSG00000130159ENST00000270517Q9BQ95
ENSG00000130159ENST00000417981Q9BQ95
ENSG00000130159ENST00000585318J3KTF5
ENSG00000130159ENST00000586149K7EM98
ENSG00000130159ENST00000588998K7ESM8
ENSG00000130159ENST00000590480K7EPL5
ENSG00000130159ENST00000591104Q9BQ95
ENSG00000130159ENST00000592312K7EN32
ENSG00000130159ENST00000592571K7EJG5
ENSG00000130159ENST00000592665K7EJI1
ENSG00000130159ENST00000593231K7EIK2

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 10 (TLR10) CascadeREACTOMER-HSA-168142
MyD88 cascade initiated on plasma membraneREACTOMER-HSA-975871
Toll Like Receptor 5 (TLR5) CascadeREACTOMER-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) CascadeREACTOMER-HSA-168181
MyD88 dependent cascade initiated on endosomeREACTOMER-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationREACTOMER-HSA-975138
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173444202007Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.54
253711972014TAK1-ECSIT-TRAF6 complex plays a key role in the TLR4 signal to activate NF-κB.30
225881742012TRIM59 interacts with ECSIT and negatively regulates NF-κB and IRF-3/7-mediated signal pathways.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
252283972015ECSIT bridges RIG-I-like receptors to VISA in signaling events of innate antiviral responses.9
253559512015Ubiquitination of ECSIT is crucial for the activation of p65/p50 NF-κBs in Toll-like receptor 4 signaling.9
292913522018Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma.8
254495732015Hepatitis B virus X protein increases the IL-1β-induced NF-κB activation via interaction with evolutionarily conserved signaling intermediate in Toll pathways (ECSIT).6

Citation

Dessen P

ECSIT (ECSIT signaling integrator)

Atlas Genet Cytogenet Oncol Haematol. 2019-05-01

Online version: http://atlasgeneticsoncology.org/gene/58024/ecsit-(ecsit-signaling-integrator)