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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
  • Evolutionarily Conserved Signaling Intermediate In Toll Pathway, Mitochondrial 3
  • 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 Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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.

Additional gene information for ECSIT Gene

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

Genomics for ECSIT Gene

GeneHancer (GH) Regulatory Elements for ECSIT Gene

Promoters and enhancers for ECSIT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J011528 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 657.8 +0.2 232 1.7 HDGF CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 ZNF207 ECSIT ILF3 KRI1 ZNF136 ZNF44 ZNF20 ZNF700 ZNF763 TIMM29 ZNF878
GH19J011530 Enhancer 1.4 FANTOM5 Ensembl ENCODE 650.7 -1.3 -1327 0.6 PKNOX1 MLX ARID4B SIN3A ZNF48 ETS1 SLC30A9 FOS RXRA NFYC ECSIT ZNF439 CCDC151 ELAVL3 ZNF491 ZNF653 ZNF441 GC19P011537
GH19J011537 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 7.5 -10.0 -10001 3.2 ATF1 SIN3A ZNF48 GLIS2 ZNF143 ATF7 SP3 GMEB1 SMARCA4 GLIS1 CNN1 ZNF439 ECSIT GC19P011537 ELOF1
GH19J011504 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.6 +23.4 23431 2.6 HDGF ARID4B SIN3A ZNF2 ZBTB7B YY1 SLC30A9 POLR2B E2F8 ZNF143 ZNF653 ENSG00000267477 CNN1 ILF3 ZNF136 ZNF627 ZNF439 KRI1 ILF3-DT ZNF844
GH19J011534 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 7.5 -6.8 -6795 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF2 POLR2B ZNF766 ZNF213 CNN1 GC19P011537 ILF3 KRI1 ZNF136 ZNF627 ZNF700 ZNF763 ZNF44 ZNF799
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECSIT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ECSIT gene promoter:
  • MAZR
  • Pax-5
  • ATF6
  • Sox9
  • FOXO4

Genomic Locations for ECSIT Gene

Genomic Locations for ECSIT Gene
chr19:11,505,916-11,529,174
(GRCh38/hg38)
Size:
23,259 bases
Orientation:
Minus strand
chr19:11,616,731-11,639,989
(GRCh37/hg19)
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

Post-translational modifications for ECSIT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ECSIT Gene

Domains & Families for ECSIT Gene

Gene Families for ECSIT Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 From GWAS Catalog for ECSIT Gene

Gene Ontology (GO) - Molecular Function for ECSIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17344420
GO:0016651 oxidoreductase activity, acting on NAD(P)H IDA 17344420
genes like me logo Genes that share ontologies with ECSIT: view
genes like me logo Genes that share phenotypes with ECSIT: view

Animal Models for ECSIT Gene

MGI Knock Outs for ECSIT:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECSIT gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ECSIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17344420
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 17344420
GO:0005739 mitochondrion IDA,IEA 17344420
GO:0005743 mitochondrial inner membrane TAS --
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

Gene Ontology (GO) - Biological Process for ECSIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0045087 innate immune response IEA --
GO:0051341 regulation of oxidoreductase activity IDA 17344420
GO:0055114 oxidation-reduction process 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 Approved 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ECSIT Gene



NURSA nuclear receptor signaling pathways regulating expression of ECSIT Gene:

ECSIT

SOURCE GeneReport for Unigene cluster for ECSIT Gene:

Hs.515146

Evidence on tissue expression from TISSUES for ECSIT Gene

  • Lung(4.3)
  • Eye(4.2)
  • Pancreas(4.2)
  • Nervous system(3.5)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ECSIT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ECSIT 34 33
  • 98.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ECSIT 34 33
  • 83.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ECSIT 34 33
  • 83.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ecsit 16 34 33
  • 76.8 (n)
rat
(Rattus norvegicus)
Mammalia Ecsit 33
  • 76.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ECSIT 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECSIT 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECSIT 33
  • 64.43 (n)
lizard
(Anolis carolinensis)
Reptilia ECSIT 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ecsit 33
  • 57.43 (n)
zebrafish
(Danio rerio)
Actinopterygii ecsit 34 33
  • 57.3 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005295 33
  • 53.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta ECSIT 34 33
  • 49.86 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y17G9B.5 34 33
  • 43.44 (n)
OneToOne
Species where no ortholog for ECSIT was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ECSIT: view image

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 Variation AA Info Type
rs1000060694 -- 11,529,041(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000273613 -- 11,512,258(-) T/G intron_variant
rs1000294178 -- 11,505,625(-) CTTCTTC/CTTC downstream_transcript_variant
rs1000478759 -- 11,505,675(-) G/T downstream_transcript_variant
rs1000495846 -- 11,528,846(-) T/A 5_prime_UTR_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv3643673 CNV loss 21293372
nsv1123221 CNV deletion 24896259
nsv509721 CNV insertion 20534489
nsv519802 CNV loss 19592680
nsv960784 CNV duplication 23825009

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)

Additional Variant Information for ECSIT Gene

Human Gene Mutation Database (HGMD)
ECSIT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECSIT

SNP Genotyping and Copy Number Assay Products

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: HGMD and 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

Additional Disease Information for ECSIT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 metabolism 2012) 2 3 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PMID: 20816094) Nouws J … Vogel RO (Cell metabolism 2010) 3 4 58
  4. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. (PMID: 17344420) Vogel RO … Nijtmans LG (Genes & development 2007) 3 4 58
  5. ECSIT is an evolutionarily conserved intermediate in the Toll/IL-1 signal transduction pathway. (PMID: 10465784) Kopp E … Ghosh S (Genes & development 1999) 2 3 58

Products for ECSIT Gene

Sources for ECSIT Gene

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