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ECSIT Gene

protein-coding   GIFtS: 50

GC19M011478
ECSIT homolog (Drosophila)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
SITPEC 1, 2, 5
Descriptions
ECSIT homolog (Drosophila) 2
Protein SITPEC 3
evolutionarily conserved signaling intermediate in Toll
pathway 2
likely ortholog of mouse signaling intermediate in Toll
pathway evolutionarily conserved 2
signaling intermediate in Toll pathway evolutionarily
conserved ortholog 2
signaling intermediate in Toll pathway, evolutionarily
conserved 2
External Ids
HGNC: 295481
Entrez Gene: 512952
UniProtKB: Q9BQ953
Ensembl: ENSG000001301597
Search outside databases for aliases for ECSIT gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M011478:     (about GC identifiers)

Start:
11,477,744 bp from pter
End:
11,500,952 bp from pter
Size:
23,209 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011295.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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). Interacts with NDUFAF1
Subcellular location: Cytoplasm. Nucleus. Mitochondrion
Secondary accessions: Q96HQ7 Q9NYI1
Alternative splicing: 2 isoforms:  Q9BQ95-1   Q9BQ95-2   

REFSEQ proteins (3 alternative transcripts): 
NP_001135936.1  NP_001135937.1  NP_057665.2  


ENSEMBL proteins: 
ENSP00000270517 ENSP00000252440 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (ECSIT)
Human Recombinant Proteins from Abnova (SITPEC)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IDA17344420
GO:0005737 cytoplasm IDA17344420
GO:0005739 mitochondrion IDA17344420
About this table

Antibodies for ECSIT: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ECSIT
Browse R&D Systems for Antibodies
Antibodies from Abcam (ECSIT), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (SITPEC)
Novus Biologicals Antibodies for ECSIT

Assays for ECSIT: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro domain/family:
 IPR010418 ECSIT


   GeneDecks  ECSIT for the domains selected above  
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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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ECSIT)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SITPEC)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_016581

              Applied Biosystems Silencer® siRNAs for ECSIT

              Sigma-Aldrich siRNA for ECSIT  
                     Sigma-Aldrich shRNA for ECSIT  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ECSIT
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001142464
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001142464
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001142464 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_016581

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

4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ecsit):

cellularembryogenesisgrowth/sizelethality-prenatal/perinatal

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IPI17344420
GO:0016651 oxidoreductase activity, acting on NADH or NADPH IDA17344420
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Invitrogen iPath™ Online BioAtlas - Pathways for ECSIT (Maps provided by GeneGo):
 IL1 signaling pathway
 NF-kB signaling pathway
 Signaling pathway mediated by IL-6 and IL-1

   GeneDecks  ECSIT for the pathways selected above  
About GeneDecksing

3 Millipore Pathways for ECSIT
 Transcription NF-kB signaling pathway
 Immune response MIF in innate immunity response
 Immune response IL-1 signaling pathway

   GeneDecks  ECSIT for the pathways selected above  
About GeneDecksing

3 Sigma-Aldrich "Your Favorite Gene" Pathways for  ECSIT  (Your Favorite Gene powered by Ingenuity) 
 Toll-like Receptor Signaling
 LPS/IL-1 Mediated Inhibition of RXR Function
 Acute Phase Response Signaling

   GeneDecks  ECSIT for the pathways selected above  
About GeneDecksing

1 Kegg Pathway  (Kegg details for ECSIT):
 hsa04010 MAPK signaling pathway

   GeneDecks  ECSIT for the pathways selected above  
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5/6 Interacting proteins for ECSIT (ENSP000002705173) via UniProtKB, MINT, and/or STRING (see all 6 )
InteractantInteraction Details
GeneCardExternal ID(s)
TRAF6ENSP000003378533STRING (score=.983)
SMAD4ENSP000003415513STRING (score=.926)
NDUFAF1ENSP000002603613STRING (score=.902)
MOBPENSP000003466953STRING (score=.899)
BMPR1AENSP000003611073STRING (score=.786)
About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0045087 innate immune response IEA--
GO:0051341 regulation of oxidoreductase activity IDA17344420
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ECSIT

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ECSIT)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SITPEC)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_016581

              Sigma-Aldrich siRNA for ECSIT  
                     Sigma-Aldrich shRNA for ECSIT  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001142464  NM_001142465  NM_016581  

REFSEQ mRNAs for ECSIT gene (3 alternative transcripts): 

NM_001142464.1   NM_001142465.1   NM_016581.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001142464  NM_001142465  NM_016581  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001142464
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001142464
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001142464 

Additional cDNA sequence: 

AF243044.1 AK131241.1 AK314905.1 BC000193.1 BC005119.1 BC008279.1 CR457204.1 CR592177.1 
CR594733.1 CR596229.1 CR599347.1 CR602583.1 CR604665.1 CR605421.1 CR608548.1 CR610188.1 
CR613109.1 CR614297.1 CR615551.1 CR616028.1 CR616122.1 CR616948.1 CR618925.1 CR621338.1 
CR624195.1 CR625388.1 

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.100758182  DT.100768066  DT.100883829  DT.121505201 
DT.121505227  DT.95125006  DT.101980316 

24/409 AceView cDNA sequences (see all 409 ):

AW025376 CB270007 BC016816 BI764621 BE295484 CD636537 BI771251 AI919416 
BU151303 CR599347 BQ276345 BC005119 BU731526 BC008279 BM662700 BM832426 
AA027849 BF513504 CD743136 BQ957282 BP429879 BI819267 CR608548 CR616948 

highest scoring ESTs for ECSIT:

AI922726 AA424927 AA442559 AW245212 BC000193 BC005119 BC008279 BE254899 BE384996 BE408896 

Unigene Cluster for ECSIT:

ECSIT homolog (Drosophila)
Hs.515146  [show with all ESTs]
Unigene Representative Sequence: AK131241


GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ECSIT (see all 11 )

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:                                                                                                  -                                       

About this scheme

ECgene alternative splicing isoforms for ECSIT

2 Ensembl transcripts including schematic representations:
ENST00000270517  ENST00000252440  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ECSIT expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ECSIT

1 / 2 / 3

3 probe-sets matching ECSIT gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

49013_at2, 3 U95-C 3 0.94 0.91 1.00 1.00 AI922726 0.80 0.88 0.84 1

218225_at2, 3 U133-A 2 1.00 0.95 -- -- NM_016581 0.60 0.83 0.73 1

218225_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AGATGCCCTT

SOURCE GeneReport for Unigene cluster: Hs.515146
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for ECSIT gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ECSIT1   -- ECSIT homolog (Drosophila) 83.22(n)
78.65(a)
484938  XM_542054.2  XP_542054.2 
chimpanzee
(Pan troglodytes)
ECSIT1   -- ECSIT homolog (Drosophila) 98.95(n)
97.76(a)
455733  XM_512396.2  XP_512396.2 
cow
(Bos taurus)
ECSIT1   -- ECSIT homolog (Drosophila) 83.29(n)
77.03(a)
507245  NM_001034286.1  NP_001029458.1 
rat
(Rattus norvegicus)
Ecsit1   -- ECSIT homolog (Drosophila) 75.81(n)
73.49(a)
300447  NM_001006986.1  NP_001006987.1 
mouse
(Mus musculus)
Ecsit1, 5 95
ECSIT homolog (Drosophila)1, 5 76.8(n)1
74.01(a)1
269401  NM_012029.11  NP_036159.11 
 AF1825105  AI4517095  (see all 11)
About this table        Species with no ortholog for ECSIT

ENSEMBL Gene Tree for ECSIT
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/104 NCBI SNPs in ECSIT are shown (see all 104 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 35)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 19 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs81092481,2
A,C,F,H11502375(+) CTGCGC/TAGCCG 1 -- ng314Minor allele frequency- T:0.22EU EA WA 416
--
rs104124371,2
A11501549(+) tcccaA/Gcactt 1 -- ng31 tfbs30--------
--
rs104180211,2
A11501570(+) aggccG/Tgcgga 1 -- ng310--------
rs126099281,2
A,C,F,H11484849(+) GCTGAG/CGCTGT 1 -- int18Minor allele frequency- C:0.49EU EA WA 834
rs65117361,2
A,C,F,H11500627(+) TCCAAA/TTCCTG 1 -- int14Minor allele frequency- T:0.27EU EA WA 416
--
rs65117351,2
A,C,F,H11489467(+) GTATTG/ATACCA 1 -- int17Minor allele frequency- A:0.26EU EA WA NA 560
rs81135341,2
A,C,F,H11485176(+) GAAGTC/GAGGGA 1 -- int112Minor allele frequency- N:0.00EU EA WA NA 984
rs170014501,2
C,F,H11486280(+) ACGGAG/AGCAAC 1 -- int111Minor allele frequency- A:0.09NA EU EA WA 978
rs104222921,2
C,F,H11496441(+) agcccG/Aggaga 1 -- int14Minor allele frequency- A:0.02EU EA WA 418
--
rs116732661,2
A,C11488801(+) tacacG/Tccagc 1 -- int10--------
About this table

HapMap Linkage Disequilibrium images for ECSIT (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608388

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

8 PubMed articles for ECSIT gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 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, and/or H-InvDB)
About This Section

Entrez Gene: 51295 HGNC: 29548 AceView: SITPECandZIP67 Ensembl:ENSG00000130159 euGenes: HUgn51295
ECgene: ECSIT H-InvDB: ECSIT
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for ECSIT:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for ECSIT-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for ECSIT Antibodies for ECSIT
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ECSIT Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant & Natural Proteins  

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(ECSIT)
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 Search OriGene for ECSIT
 Search Tocris compounds for ECSIT




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for ECSIT

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