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Aliases for ECSIT Gene

Aliases for ECSIT Gene

  • ECSIT Signalling Integrator 2 3
  • 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, 6
  • SITPEC 3

External Ids for ECSIT Gene

Summaries for ECSIT Gene

GeneCards Summary for ECSIT Gene

ECSIT (ECSIT Signalling Integrator) is a Protein Coding gene. Diseases associated with ECSIT include pulpitis. Among its related pathways are MAPK signaling pathway and NF-KappaB Family Pathway. GO annotations related to this gene include sequence-specific 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

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

Genomic Location for ECSIT Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ECSIT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECSIT Gene

Regulatory Elements 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

No data available for DME Specific Peptides for ECSIT Gene

Domains for ECSIT Gene

Gene Families for ECSIT Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

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
Family:
  • Belongs to the ECSIT family.:
    • Q9BQ95
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

Gene Ontology (GO) - Molecular Function for ECSIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0004871 signal transducer activity IEA --
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:

miRNA for ECSIT Gene

miRTarBase miRNAs that target ECSIT

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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:0005634 nucleus IDA 17344420
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA 17344420
genes like me logo Genes that share ontologies with ECSIT: view

Pathways 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:0001707 mesoderm formation IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway --
GO:0030509 BMP signaling pathway IEA --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with ECSIT: view

Compounds for ECSIT Gene

(1) HMDB Compounds for ECSIT Gene

Compound Synonyms Cas Number PubMed IDs
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
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 (4.1).

Integrated Proteomics: protein expression 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 expressions with ECSIT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 35
  • 98.66 (n)
  • 97.32 (a)
ECSIT 36
  • 95 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ECSIT 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECSIT 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ecsit 35
  • 76.59 (n)
  • 73.49 (a)
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 MAF
rs1138211 -- 11,516,460(+) CCCTG(A/G)GCAAC intron-variant
rs2871605 -- 11,510,314(-) CCTGT(A/G)GCCCC intron-variant
rs4804168 -- 11,513,676(+) GGATT(C/G)GGAGA intron-variant
rs6511735 -- 11,517,652(+) GTATT(A/G)TACCA intron-variant
rs6511736 -- 11,528,812(+) TCCAA(A/T)TCCTG intron-variant, utr-variant-5-prime

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

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

(1) MalaCards Diseases for ECSIT Gene

Search for ECSIT Gene in MalaCards »

(1) University of Copenhagen DISEASES for ECSIT Gene

Relevant External Links for ECSIT

Genetic Association Database (GAD)
ECSIT
Human Genome Epidemiology (HuGE) Navigator
ECSIT
genes like me logo Genes that share disorders with ECSIT: view

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

Publications for ECSIT Gene

  1. 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
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  3. 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
  4. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. (PMID: 17344420) Vogel R.O. … Nijtmans L.G.J. (Genes Dev. 2007) 3 4
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for ECSIT Gene

Sources for ECSIT Gene

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