Ecsit ECSIT signalling integrator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ecsitprovided by MGI
Official Full Name: ECSIT signalling integratorprovided by MGI
Primary source: MGI:MGI:1349469
See related: Ensembl:ENSMUSG00000066839 AllianceGenome:MGI:1349469
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sitpec
Summary: Enables DNA-binding transcription factor activity and chromatin binding activity. Acts upstream of or within BMP signaling pathway; mesoderm formation; and regulation of transcription by RNA polymerase II. Located in mitochondrion. Part of transcription regulator complex. Is expressed in several structures, including egg cylinder; embryo mesoderm; and genitourinary system. Orthologous to human ECSIT (ECSIT signaling integrator). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart adult (RPKM 41.2), kidney adult (RPKM 37.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A3; 9 8.23 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (21982731..21997648, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (22071435..22086296, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ECSIT is essential for RANKL-induced stimulation of mitochondria in osteoclasts and a target for the anti-osteoclastogenic effects of estrogens.
Title: ECSIT is essential for RANKL-induced stimulation of mitochondria in osteoclasts and a target for the anti-osteoclastogenic effects of estrogens.
these results demonstrate a key role of ECSIT in complex I function, mitochondrial reactive oxygen species production, and mitophagy-dependent mitochondrial quality control.
Title: An Essential Role for ECSIT in Mitochondrial Complex I Assembly and Mitophagy in Macrophages.
ECSIT-T419C knock-in mice showed higher peritoneal NADPH oxidase activity than mice with wild-type ECSIT in response to LPS. ECSIT-T419C-transfected ENKTL cell lines produced tumor necrosis factor (TNF)-alpha and interferon (IFN)-gamma, which induced macrophage activation and massive cytokine secretion in cell culture and mouse xenografts.
Title: Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma.
functions as an essential component in two important signal transduction pathways and establishes a novel role for Ecsit as a cofactor for Smad proteins in the bone morphogenetic protein signaling pathway
Title: Ecsit is required for Bmp signaling and mesoderm formation during mouse embryogenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell surface receptor protein serine/threonine kinase signaling pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of oxidoreductase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of oxidoreductase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein complex stability	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein complex stability	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor 4 signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA 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 mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	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; 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_001253897.2 → NP_001240826.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial precursor

See identical proteins and their annotated locations for NP_001240826.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC163623

Consensus CDS

CCDS22920.1

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

UniProtKB/TrEMBL

A0A0R4J174

Related

ENSMUSP00000136247.2, ENSMUST00000180180.8

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
NM_001253898.2 → NP_001240827.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial precursor

See identical proteins and their annotated locations for NP_001240827.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC163623

Consensus CDS

CCDS22920.1

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

UniProtKB/TrEMBL

A0A0R4J174

Related

ENSMUSP00000137424.2, ENSMUST00000179422.8

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
NM_001421174.1 → NP_001408103.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Status: VALIDATED

Source sequence(s)

AC163623

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

UniProtKB/TrEMBL

A0A0R4J174
NM_001421175.1 → NP_001408104.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Status: VALIDATED

Source sequence(s)

AC163623

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

UniProtKB/TrEMBL

A0A0R4J174
NM_012029.3 → NP_036159.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial precursor

See identical proteins and their annotated locations for NP_036159.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AC163623

Consensus CDS

CCDS22920.1

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

UniProtKB/TrEMBL

A0A0R4J174

Related

ENSMUSP00000096537.4, ENSMUST00000098937.10

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

21982731..21997648 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011242539.4 → XP_011240841.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform X2

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

Conserved Domains (3) summary

sd00004
Location:126 → 171

PPR; PPR repeat [structural motif]

pfam06239
Location:51 → 266

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway

pfam14784
Location:269 → 350

ECSIT_C; C-terminal domain of the ECSIT protein
XM_030244396.2 → XP_030100256.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform X3

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

Conserved Domains (3) summary

sd00004
Location:56 → 101

PPR; PPR repeat [structural motif]

pfam06239
Location:1 → 196

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway

pfam14784
Location:199 → 323

ECSIT_C; C-terminal domain of the ECSIT protein
XM_030244395.2 → XP_030100255.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform X3

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

Conserved Domains (3) summary

sd00004
Location:56 → 101

PPR; PPR repeat [structural motif]

pfam06239
Location:1 → 196

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway

pfam14784
Location:199 → 323

ECSIT_C; C-terminal domain of the ECSIT protein
XM_036155023.1 → XP_036010916.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

UniProtKB/TrEMBL

A0A0R4J174

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
XM_011242540.4 → XP_011240842.1 evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform X3

UniProtKB/Swiss-Prot

Q91V53, Q9QZH6

Conserved Domains (3) summary

sd00004
Location:56 → 101

PPR; PPR repeat [structural motif]

pfam06239
Location:1 → 196

ECSIT; Evolutionarily conserved signalling intermediate in Toll pathway

pfam14784
Location:199 → 323

ECSIT_C; C-terminal domain of the ECSIT protein