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ECSIT Gene

protein-coding   GIFtS: 57
GCID: GC19M011616

ECSIT Signalling Integrator

(Previous name: ECSIT homolog (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ECSIT Signalling Integrator1 2     ECSIT Homolog2
SITPEC2 5     Evolutionarily Conserved Signaling Intermediate In Toll Pathway,
Mitochondrial2
ECSIT Homolog (Drosophila)1     Likely Ortholog Of Mouse Signaling Intermediate In Toll Pathway
Evolutionarily Conserved2
Signaling Intermediate In Toll Pathway Evolutionarily Conserved Ortholog
(Mouse)1
     Protein SITPEC3

External Ids:    HGNC: 295481   Entrez Gene: 512952   Ensembl: ENSG000001301597   OMIM: 6083885   UniProtKB: Q9BQ953   

Export aliases for ECSIT gene to outside databases

Previous GC identifers: GC19M011478 GC19M011191


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ECSIT Gene:
ECSIT (ECSIT signalling integrator) is a protein-coding gene. Diseases associated with ECSIT include pulpitis, and alzheimer's disease. GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: ECSIT_HUMAN, Q9BQ95
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)
Function: Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECSIT gene promoter:
         Pax-5   MAZR   FOXO4   Sox9   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidECSIT promoter sequence
   Search Chromatin IP Primers for ECSIT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECSIT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

ECSIT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECSIT gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M011616:  view genomic region     (about GC identifiers)

Start:
11,616,731 bp from pter      End:
11,639,989 bp from pter
Size:
23,259 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ECSIT_HUMAN, Q9BQ95 (See protein sequence)
Recommended Name: Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial precursor  
Size: 431 amino acids; 49148 Da
Subunit: 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
Secondary accessions: E9PAN9 Q96HQ7 Q9NYI1
Alternative splicing: 3 isoforms:  Q9BQ95-1   Q9BQ95-2   Q9BQ95-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ECSIT: NX_Q9BQ95

Explore proteomics data for ECSIT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ECSIT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001135936.1  NP_001135937.1  NP_001230133.1  NP_057665.2  

    ENSEMBL proteins: 
     ENSP00000270517   ENSP00000468783   ENSP00000252440   ENSP00000465162   ENSP00000412712  
     ENSP00000466559   ENSP00000466762   ENSP00000462957   ENSP00000464783   ENSP00000467436  
     ENSP00000465181   ENSP00000466415  

    ECSIT Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ECSIT
    OriGene Protein Over-expression Lysate for ECSIT
    OriGene MassSpec for ECSIT
    OriGene Custom Protein Services for ECSIT
    GenScript Custom Purified and Recombinant Proteins Services for ECSIT
    Novus Biologicals ECSIT Proteins
    Sino Biological Recombinant Protein for ECSIT
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ECSIT Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ECSIT
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    Novus Biologicals ECSIT Antibodies
    Abcam antibodies for ECSIT
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for ECSIT
    LSBio Antibodies in human, mouse, rat for ECSIT

    ECSIT Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ECSIT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ECSIT
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    1 InterPro protein domain:
     IPR010418 ECSIT

    Graphical View of Domain Structure for InterPro Entry Q9BQ95

    ProtoNet protein and cluster: Q9BQ95

    UniProtKB/Swiss-Prot: ECSIT_HUMAN, Q9BQ95
    Similarity: Belongs to the ECSIT family


    ECSIT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECSIT_HUMAN, Q9BQ95
    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)
    Function: Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI17344420
    GO:0016651oxidoreductase activity, acting on NAD(P)H IDA17344420
         
    ECSIT for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ecsit):
     cellular  embryogenesis  growth/size/body  mortality/aging 

    ECSIT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ecsittm1Gho for ECSIT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECSIT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ECSIT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ECSIT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ECSIT

    miRNA
    Products:
        
    miRTarBase miRNAs that target ECSIT:
    hsa-mir-186-3p (MIRT038614)

    Block miRNA regulation of human, mouse, rat ECSIT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ECSIT
    SwitchGear 3'UTR luciferase reporter plasmidECSIT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ECSIT
    Predesigned siRNA for gene silencing in human, mouse, rat ECSIT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ECSIT

    Clone
    Products:
         
    OriGene clones in human, mouse for ECSIT (see all 19)
    OriGene ORF clones in mouse, rat for ECSIT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ECSIT (NM_016581)
    Sino Biological Human cDNA Clone for ECSIT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECSIT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECSIT

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ECSIT
    Browse ESI BIO Cell Lines and PureStem Progenitors for ECSIT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECSIT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ECSIT_HUMAN, Q9BQ95: Cytoplasm. Nucleus. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol3
    peroxisome2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA17344420

    ECSIT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ECSIT About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Toll Like Receptor 7/8 (TLR7/8) Cascade
    Toll Like Receptor 9 (TLR9) Cascade0.93
    Toll Like Receptor 7/8 (TLR7/8) Cascade0.69
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation0.93
    MyD88 dependent cascade initiated on endosome0.69
    3Toll Comparative Pathway
    Immune response MIF in innate immunity response0.46
    4TNF Signaling
    NF-kB (NFkB) Pathway0.46
    5NOD-like Receptor Signaling Pathways
    Immune response IL 1 signaling pathway0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ECSIT
        NF-KappaB (p50-p65) Pathway
    Toll-Like Receptors Pathway
    Toll Comparative Pathway
    IL-1 Pathway

    3 GeneGo (Thomson Reuters) Pathways for ECSIT
        Immune response MIF in innate immunity response
    Transcription NF-kB signaling pathway
    Immune response IL-1 signaling pathway

    1 BioSystems Pathway for ECSIT
        MAPK signaling pathway

    1 Sino Biological Pathway for ECSIT
        NF-kB (NFkB) Pathway


    1 Kegg Pathway  (Kegg details for ECSIT):
        MAPK signaling pathway


    ECSIT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ECSIT: 
              Toll-Like Receptor Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ECSIT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ECSIT (Q9BQ951, 3 ENSP000002705174) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FARSAQ9Y2851, 3, ENSP000003203094EBI-712452,EBI-725361 I2D: score=1 STRING: ENSP00000320309
    APOEP026491, 3EBI-712452,EBI-1222467 I2D: score=1 
    PSEN1P497681, 3EBI-712452,EBI-297277 I2D: score=1 
    PSEN2P498101, 3EBI-712452,EBI-2010251 I2D: score=1 
    SMURF1Q9HCE73, ENSP000003546214I2D: score=2 STRING: ENSP00000354621
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007178transmembrane receptor protein serine/threonine kinase signaling pathway ----
    GO:0030509BMP signaling pathway IEA--
    GO:0045087innate immune response IEA--

    ECSIT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ECSIT

    1 HMDB Compound for ECSIT    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ECSIT gene (4 alternative transcripts): 
    NM_001142464.2  NM_001142465.2  NM_001243204.1  NM_016581.4  

    Unigene Cluster for ECSIT:

    ECSIT homolog (Drosophila)
    Hs.515146  [show with all ESTs]
    Unigene Representative Sequence: AK131241
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000270517(uc010dyc.2 uc002msb.3 uc010dyd.3 uc010xma.2)
    ENST00000588998 ENST00000252440 ENST00000592571 ENST00000417981 ENST00000585898
    ENST00000591104 ENST00000592312 ENST00000585318 ENST00000593231 ENST00000591352
    ENST00000590480 ENST00000592665 ENST00000586149
    miRNA
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    Block miRNA regulation of human, mouse, rat ECSIT using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ECSIT
    SwitchGear 3'UTR luciferase reporter plasmidECSIT 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ECSIT
    Predesigned siRNA for gene silencing in human, mouse, rat ECSIT
    Clone
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    OriGene clones in human, mouse for ECSIT (see all 19)
    OriGene ORF clones in mouse, rat for ECSIT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ECSIT (NM_016581)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECSIT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECSIT
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ECSIT
    OriGene qSTAR qPCR primer pairs in human, mouse for ECSIT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECSIT
      QuantiTect SYBR Green Assays in human, mouse, rat ECSIT
      QuantiFast Probe-based Assays in human, mouse, rat ECSIT

    Additional mRNA sequence: 

    AF243044.1 AK131241.1 AK314905.1 BC000193.1 BC005119.1 BC008279.1 CR457204.1 

    19 DOTS entries:

    DT.65288585  DT.100883844  DT.100883840  DT.91768315  DT.40132921  DT.100838513  DT.95369914  DT.102828211 
    DT.121505203  DT.121505216  DT.95369907  DT.95369917  DT.100768066  DT.100883829  DT.121505201  DT.121505227 
    DT.95125006  DT.100758182  DT.101980316 

    Selected AceView cDNA sequences (see all 409):

    CR625388 BE262327 CR613109 BM921622 BI825700 AI457754 BM833491 BE384996 
    BG741581 BM832426 BI914011 CR615551 CR616122 CR614297 BM765528 AW517109 
    BQ279023 BQ643039 CR599347 AI783500 BM832183 BU857031 BM662700 BI908217 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ECSIT (see all 11)    About this scheme

    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:                                                                                                  -                                       


    ECgene alternative splicing isoforms for ECSIT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ECSIT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATGCCCTT
    ECSIT Expression
    About this image

    ECSIT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECSIT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515146
        Pathway & Disease-focused RT2 Profiler PCR Array including ECSIT: 
              Toll-Like Receptor Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ECSIT
    OriGene qSTAR qPCR primer pairs in human, mouse for ECSIT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECSIT
    QuantiTect SYBR Green Assays in human, mouse, rat ECSIT
    QuantiFast Probe-based Assays in human, mouse, rat ECSIT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECSIT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ECSIT gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ecsit1 , 5 ECSIT homolog (Drosophila)1, 5 76.8(n)1
    74.01(a)1
      9 (8.23 cM)5
    269401  NM_001253897.11  NP_001240826.11 
     220722465 
    chicken
    (Gallus gallus)
    Aves ECSIT1 ECSIT homolog (Drosophila) 64.43(n)
    59.06(a)
      100857880  XM_003643544.2  XP_003643592.1 
    lizard
    (Anolis carolinensis)
    Reptilia ECSIT6
    ECSIT signalling integrator
    52(a)
    1 ↔ 1
    2(78615537-78625295)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL868967.22   -- 72.96(n)    AL868967.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ecsit1 ECSIT homolog (Drosophila) 57.3(n)
    53.99(a)
      569243  NM_001242938.1  NP_001229867.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ECSIT1 ECSIT 49.86(n)
    34.99(a)
      40732  NM_141345.2  NP_649602.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G9B.51 Y17G9B.5 43.44(n)
    31.53(a)
      177244  NM_068230.4  NP_500631.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ECSIT (see all 482)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424531251,2
    C--11618744(+) CCAGCA/GAGAAC 4 -- int10--------
    rs81085981,2
    C,F,A--11618766(+) TGGGTA/CAGGTT 4 -- int16Minor allele frequency- C:0.20WA CSA NA EA 364
    rs81115711,2
    C,F--11618783(+) TTGGCT/CGCCCC 4 -- int16Minor allele frequency- C:0.08WA CSA EA EU 1567
    rs2018205181,2
    C--11618792(+) CCCATC/GCTCTC 4 -- int10--------
    rs2009679901,2
    --11618809(+) ACCTAC/TGATGT 8 I V mis10--------
    rs1478027361,2
    C,F--11618822(+) GGCTGG/TGGGGG 8 P syn11Minor allele frequency- T:0.00NA 4552
    rs1394214951,2
    C,F--11618827(+) GGGGGG/TATCTG 8 T P mis11Minor allele frequency- T:0.00NA 4552
    rs2000341221,2
    C--11618892(+) ATCTTG/CTAACC 4 -- int11Minor allele frequency- C:0.00EU 1323
    rs594855001,2
    C,F--11618985(+) TACACG/AGCCCT 4 -- int13Minor allele frequency- A:0.20WA 122
    rs599529551,2
    C,F--11619086(+) CACCTT/GTGTCA 4 -- int16Minor allele frequency- G:0.20WA CSA NA EA 364

    HapMap Linkage Disequilibrium report for ECSIT (11616731 - 11639989 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ECSIT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509721CNV Insertion20534489
    nsv911062CNV Loss21882294
    nsv911065CNV Loss21882294
    nsv519802CNV Loss19592680

    Human Gene Mutation Database (HGMD): ECSIT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECSIT
    DNA2.0 Custom Variant and Variant Library Synthesis for ECSIT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608388    OMIM disorders: --

    3 diseases for ECSIT:    
    About MalaCards
    pulpitis    alzheimer's disease    malaria

    1 disease from the University of Copenhagen DISEASES database for ECSIT:
    Pulpitis

    ECSIT for disorders           About GeneDecksing

    Genetic Association Database (GAD): ECSIT
    Human Genome Epidemiology (HuGE) Navigator: ECSIT (1 document)

    Export disorders for ECSIT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ECSIT gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with ECSIT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. (PubMed id 22982022)1, 3 Heide H....Brandt U. (Cell Metab. 2012)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. (PubMed id 17344420)1, 2 Vogel R.O.... Nijtmans L.G.J. (Genes Dev. 2007)
    4. ECSIT is an evolutionarily conserved intermediate in the Toll/IL-1 signal transduction pathway. (PubMed id 10465784)1, 3 Kopp E....Ghosh S. (amp 1999)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. TRIM59 interacts with ECSIT and negatively regulates NF-I_B and IRF-3/7-mediated signal pathways. (PubMed id 22588174)1 Kondo T....Hatakeyama S. (Biochem. Biophys. Res. Commun. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. (PubMed id 21163940)1 Soler-LA^pez M....Aloy P. (Genome Res. 2011)
    10. Proteomic profiling of Myc-associated proteins. (PubMed id 21150319)1 Agrawal P....Sedivy J.M. (Cell Cycle 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51295 HGNC: 29548 AceView: SITPECandZIP67 Ensembl:ENSG00000130159 euGenes: HUgn51295
    ECgene: ECSIT Kegg: 51295 H-InvDB: ECSIT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ECSIT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ECSIT gene:
    Search GeneIP for patents involving ECSIT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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