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

Gene ID: 26940, updated on 28-Oct-2024

Summary

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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, Oct 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

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See Ecsit in Genome Data Viewer
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_000075.7Genomic Context describing neighboring genes Neighboring gene ELAV like RNA binding protein 3 Neighboring gene zinc finger protein 653 Neighboring gene predicted gene, 16845 Neighboring gene STARR-positive B cell enhancer ABC_E8280 Neighboring gene predicted gene 6581 Neighboring gene calponin 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. ECSIT is essential for RANKL-induced stimulation of mitochondria in osteoclasts and a target for the anti-osteoclastogenic effects of estrogens. Marques-Carvalho A, et al. Front Endocrinol (Lausanne), 2023. PMID 37152948, Free PMC Article
  2. Impaired mitochondrial oxidative metabolism in skeletal progenitor cells leads to musculoskeletal disintegration. Lin C, et al. Nat Commun, 2022 Nov 11. PMID 36369293, Free PMC Article
  3. Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma. Wen H, et al. Nat Med, 2018 Feb. PMID 29291352
  4. ECSIT is a critical limiting factor for cardiac function. Xu L, et al. JCI Insight, 2021 Jun 22. PMID 34032637, Free PMC Article
  5. An Essential Role for ECSIT in Mitochondrial Complex I Assembly and Mitophagy in Macrophages. Carneiro FRG, et al. Cell Rep, 2018 Mar 6. PMID 29514094, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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 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)

  1. 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

  2. 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

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

    Status: VALIDATED

    Source sequence(s)
    AC163623
    UniProtKB/TrEMBL
    A0A0R4J174

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

    Status: VALIDATED

    Source sequence(s)
    AC163623
    UniProtKB/TrEMBL
    A0A0R4J174

  5. 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

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    21982731..21997648 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QZH6.2 GenPept UniProtKB/Swiss-Prot:Q9QZH6

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