ECSIT ECSIT signaling integrator [Homo sapiens (human)] - Gene

Summary

Official Symbol: ECSITprovided by HGNC
Official Full Name: ECSIT signaling integratorprovided by HGNC
Primary source: HGNC:HGNC:29548
See related: Ensembl:ENSG00000130159 MIM:608388; AllianceGenome:HGNC:29548
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SITPEC
Summary: Enables molecular adaptor activity. Involved in regulation of oxidoreductase activity; regulation of protein complex stability; and toll-like receptor 4 signaling pathway. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart (RPKM 25.2), ovary (RPKM 18.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (11505929..11529134, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (11633432..11656636, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (11616744..11639949, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ECSIT facilitates memory CD8[+] T cell development by mediating fumarate synthesis during viral infection and tumorigenesis.
Title: ECSIT facilitates memory CD8(+) T cell development by mediating fumarate synthesis during viral infection and tumorigenesis.
ECSIT Is a Critical Factor for Controlling Intestinal Homeostasis and Tumorigenesis through Regulating the Translation of YAP Protein.
Title: ECSIT Is a Critical Factor for Controlling Intestinal Homeostasis and Tumorigenesis through Regulating the Translation of YAP Protein.
ECSIT is a critical limiting factor for cardiac function.
Title: ECSIT is a critical limiting factor for cardiac function.
No association between <i>ECSIT</i> germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma.
Title: No association between ECSIT germline mutations and hemophagocytic lymphohistiocytosis in natural killer/T-cell lymphoma.
CRBN Is a Negative Regulator of Bactericidal Activity and Autophagy Activation Through Inhibiting the Ubiquitination of ECSIT and BECN1.
Title: CRBN Is a Negative Regulator of Bactericidal Activity and Autophagy Activation Through Inhibiting the Ubiquitination of ECSIT and BECN1.
We added thalidomide to the conventional dexamethasone-containing therapy regimen for two patients with HPS who expressed ECSIT-V140A, and we observed reversal of their HPS and disease-free survival for longer than 3 years. These findings provide mechanistic insights and a potential therapeutic strategy for extranodal natural killer/T cell lymphoma-associated Hemophagocytic syndrome.
Title: Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma.
mediates virus-triggered type I IFN induction by bridging RIG-I and MDA5 to the VISA complex
Title: ECSIT bridges RIG-I-like receptors to VISA in signaling events of innate antiviral responses.
Ubiquitination of ECSIT might have a role in the regulation of NF-kappaB activity in TLR4 signaling.
Title: Ubiquitination of ECSIT is crucial for the activation of p65/p50 NF-κBs in Toll-like receptor 4 signaling.
Authors conclude that ECSIT appears to be a novel Hepatitis B virus X protein-interacting signal molecule and their interaction is mechanistically important in IL-1beta induction of NF-kappaB activation.
Title: Hepatitis B virus X protein increases the IL-1β-induced NF-κB activation via interaction with evolutionarily conserved signaling intermediate in Toll pathways (ECSIT).
Data show that the ECSIT (evolutionarily conserved signaling intermediate in Toll pathways) complex, including MEKK7 (TAK1) and TNF receptor-associated factor 6 (TRAF6), plays a role in Toll-like receptor 4 -mediated signals to activate NF-kappa B.
Title: TAK1-ECSIT-TRAF6 complex plays a key role in the TLR4 signal to activate NF-κB.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S665E (e-PCR)
- UniSTS:150574

STS-AA027810 (e-PCR)
- UniSTS:64170

RH98319 (e-PCR)
- UniSTS:87283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex I assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein complex stability	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Names: ECSIT homolog; ECSIT signalling integrator; likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001142464.3 → NP_001135936.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 2 precursor

See identical proteins and their annotated locations for NP_001135936.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC008279

Consensus CDS

CCDS45980.1

UniProtKB/Swiss-Prot

Q9BQ95

Related

ENSP00000252440.6, ENST00000252440.11

Conserved Domains (2) summary

sd00004
Location:126 → 171

PPR; PPR repeat [structural motif]

pfam06239
Location:50 → 266

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway
NM_001142465.3 → NP_001135937.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two consecutive exons in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AI743680, BE791936

Consensus CDS

CCDS45979.1

UniProtKB/Swiss-Prot

Q9BQ95

Related

ENSP00000412712.1, ENST00000417981.6

Conserved Domains (1) summary

pfam14784
Location:55 → 179

ECIST_C; C-terminal domain of the ECSIT protein
NM_001243204.2 → NP_001230133.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI336311, AK314905, BU186092

Consensus CDS

CCDS59353.1

UniProtKB/Swiss-Prot

Q9BQ95

Related

ENSP00000466559.1, ENST00000591104.5

Conserved Domains (2) summary

sd00004
Location:126 → 171

PPR; PPR repeat [structural motif]

pfam06239
Location:50 → 265

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway
NM_016581.5 → NP_057665.2 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_057665.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC000193, BE791936

Consensus CDS

CCDS12262.1

UniProtKB/Swiss-Prot

E9PAN9, K7EMM0, Q96HQ7, Q9BQ95, Q9NYI1

Related

ENSP00000270517.6, ENST00000270517.12

Conserved Domains (3) summary

sd00004
Location:126 → 171

PPR; PPR repeat [structural motif]

pfam06239
Location:50 → 266

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway

pfam14784
Location:269 → 393

ECSIT_C; C-terminal domain of the ECSIT protein