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Aliases for ECSIT Gene

Aliases for ECSIT Gene

  • ECSIT Signalling Integrator 2 3 5
  • Likely Ortholog Of Mouse Signaling Intermediate In Toll Pathway Evolutionarily Conserved 3
  • Signaling Intermediate In Toll Pathway Evolutionarily Conserved Ortholog (Mouse) 2
  • ECSIT Homolog (Drosophila) 2
  • Protein SITPEC 4
  • ECSIT Homolog 3
  • SITPEC 3

External Ids for ECSIT Gene

Previous GeneCards Identifiers for ECSIT Gene

  • GC19M011478
  • GC19M011616
  • GC19M011191

Summaries for ECSIT Gene

GeneCards Summary for ECSIT Gene

ECSIT (ECSIT Signalling Integrator) is a Protein Coding gene. Diseases associated with ECSIT include dental pulp disease. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot for ECSIT Gene

  • Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity).

  • Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECSIT Gene

Genomics for ECSIT Gene

Regulatory Elements for ECSIT Gene

Promoters for ECSIT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ECSIT on UCSC Golden Path with GeneCards custom track

Genomic Location for ECSIT Gene

Chromosome:
19
Start:
11,505,916 bp from pter
End:
11,529,174 bp from pter
Size:
23,259 bases
Orientation:
Minus strand

Genomic View for ECSIT Gene

Genes around ECSIT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECSIT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECSIT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECSIT Gene

Proteins for ECSIT Gene

  • Protein details for ECSIT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQ95-ECSIT_HUMAN
    Recommended name:
    Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
    Protein Accession:
    Q9BQ95
    Secondary Accessions:
    • E9PAN9
    • K7EMM0
    • Q96HQ7
    • Q9NYI1

    Protein attributes for ECSIT Gene

    Size:
    431 amino acids
    Molecular mass:
    49148 Da
    Quaternary structure:
    • Interacts with MAP3K1, SMAD4 and TRAF6. Interacts with SMAD1 only after BMP4-treatment (By similarity). Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Interacts with NDUFAF1 (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094). Interacts with TRIM59 (By similarity).

    Alternative splice isoforms for ECSIT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECSIT Gene

Proteomics data for ECSIT Gene at MOPED

Post-translational modifications for ECSIT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ECSIT Gene

Domains & Families for ECSIT Gene

Protein Domains for ECSIT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ECSIT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQ95

UniProtKB/Swiss-Prot:

ECSIT_HUMAN :
  • Belongs to the ECSIT family.
Family:
  • Belongs to the ECSIT family.
genes like me logo Genes that share domains with ECSIT: view

Function for ECSIT Gene

Molecular function for ECSIT Gene

UniProtKB/Swiss-Prot Function:
Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity).
UniProtKB/Swiss-Prot Function:
Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase.

Phenotypes for ECSIT Gene

genes like me logo Genes that share phenotypes with ECSIT: view

Animal Models for ECSIT Gene

MGI Knock Outs for ECSIT:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ECSIT Gene

Localization for ECSIT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECSIT Gene

Cytoplasm. Nucleus. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECSIT Gene COMPARTMENTS Subcellular localization image for ECSIT gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for ECSIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with ECSIT: view

Pathways & Interactions for ECSIT Gene

genes like me logo Genes that share pathways with ECSIT: view

Pathways by source for ECSIT Gene

Gene Ontology (GO) - Biological Process for ECSIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with ECSIT: view

No data available for SIGNOR curated interactions for ECSIT Gene

Drugs & Compounds for ECSIT Gene

(1) Drugs for ECSIT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra 0
genes like me logo Genes that share compounds with ECSIT: view

Transcripts for ECSIT Gene

Unigene Clusters for ECSIT Gene

ECSIT homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ECSIT Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - - - -
SP2: - - - - - -
SP3:
SP4: - - -
SP5: -
SP6: - - - -
SP7: - -
SP8: - - - - - -
SP9:
SP10: - - - - -
SP11: - - -

Relevant External Links for ECSIT Gene

GeneLoc Exon Structure for
ECSIT
ECgene alternative splicing isoforms for
ECSIT

Expression for ECSIT Gene

mRNA expression in normal human tissues for ECSIT Gene

mRNA differential expression in normal tissues according to GTEx for ECSIT Gene

This gene is overexpressed in Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for ECSIT Gene

This gene is overexpressed in Heart (12.3), Peripheral blood mononuclear cells (11.8), and Retina (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECSIT Gene



SOURCE GeneReport for Unigene cluster for ECSIT Gene Hs.515146

genes like me logo Genes that share expression patterns with ECSIT: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ECSIT Gene

Orthologs for ECSIT Gene

This gene was present in the common ancestor of animals.

Orthologs for ECSIT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ECSIT 35
  • 83.46 (n)
  • 78.09 (a)
ECSIT 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECSIT 35
  • 83.37 (n)
  • 79.12 (a)
ECSIT 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ecsit 35
  • 76.8 (n)
  • 74.01 (a)
Ecsit 16
Ecsit 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ECSIT 35
  • 98.66 (n)
  • 97.32 (a)
ECSIT 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ecsit 35
  • 76.59 (n)
  • 73.49 (a)
oppossum
(Monodelphis domestica)
Mammalia ECSIT 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECSIT 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECSIT 35
  • 64.43 (n)
  • 59.06 (a)
lizard
(Anolis carolinensis)
Reptilia ECSIT 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ecsit 35
  • 57.43 (n)
  • 51.47 (a)
zebrafish
(Danio rerio)
Actinopterygii ecsit 35
  • 57.3 (n)
  • 53.99 (a)
ecsit 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005295 35
  • 53.27 (n)
  • 36.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta ECSIT 35
  • 49.86 (n)
  • 34.99 (a)
ECSIT 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y17G9B.5 35
  • 43.44 (n)
  • 31.53 (a)
Y17G9B.5 36
  • 29 (a)
OneToOne
Species with no ortholog for ECSIT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECSIT Gene

ENSEMBL:
Gene Tree for ECSIT (if available)
TreeFam:
Gene Tree for ECSIT (if available)

Paralogs for ECSIT Gene

No data available for Paralogs for ECSIT Gene

Variants for ECSIT Gene

Sequence variations from dbSNP and Humsavar for ECSIT Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_032907 -
VAR_032908 -
rs1138211 -- 11,516,460(+) CCCTG(A/G)GCAAC intron-variant
rs2871605 -- 11,510,314(-) CCTGT(A/G)GCCCC intron-variant
rs6511735 -- 11,517,652(+) GTATT(A/G)TACCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ECSIT Gene

Variant ID Type Subtype PubMed ID
nsv519802 CNV Loss 19592680
nsv911062 CNV Loss 21882294
nsv911065 CNV Loss 21882294
nsv509721 CNV Insertion 20534489

Variation tolerance for ECSIT Gene

Residual Variation Intolerance Score: 58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECSIT Gene

HapMap Linkage Disequilibrium report
ECSIT
Human Gene Mutation Database (HGMD)
ECSIT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECSIT Gene

Disorders for ECSIT Gene

MalaCards: The human disease database

(1) MalaCards diseases for ECSIT Gene - From: DISEASES

Disorder Aliases PubMed IDs
dental pulp disease
  • dental pulp disorder
- elite association - COSMIC cancer census association via MalaCards
Search ECSIT in MalaCards View complete list of genes associated with diseases

Relevant External Links for ECSIT

Genetic Association Database (GAD)
ECSIT
Human Genome Epidemiology (HuGE) Navigator
ECSIT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECSIT
genes like me logo Genes that share disorders with ECSIT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ECSIT Gene

Publications for ECSIT Gene

  1. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. (PMID: 22982022) Heide H. … Brandt U. (Cell Metab. 2012) 2 3 67
  2. ECSIT is an evolutionarily conserved intermediate in the Toll/IL-1 signal transduction pathway. (PMID: 10465784) Kopp E. … Ghosh S. (Genes Dev. 1999) 2 3
  3. Ubiquitination of ECSIT is crucial for the activation of p65/p50 NF-I_Bs in Toll-like receptor 4 signaling. (PMID: 25355951) Mi Wi S. … Lee K.Y. (Mol. Biol. Cell 2015) 3
  4. Hepatitis B virus X protein increases the IL-1I^-induced NF-I_B activation via interaction with evolutionarily conserved signaling intermediate in Toll pathways (ECSIT). (PMID: 25449573) Chen W.N. … Lin X. (Virus Res. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ECSIT Gene

Sources for ECSIT Gene

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