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Protein

Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Gene

ECSIT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • oxidoreductase activity, acting on NAD(P)H Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Immunity, Innate immunity

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130159-MONOMER.
ReactomeiR-HSA-166058. MyD88:Mal cascade initiated on plasma membrane.
R-HSA-6799198. Complex I biogenesis.
R-HSA-975138. TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation.
R-HSA-975871. MyD88 cascade initiated on plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Alternative name(s):
Protein SITPEC
Gene namesi
Name:ECSIT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:29548. ECSIT.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • mitochondrial inner membrane Source: Reactome
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi51295.
OpenTargetsiENSG00000130159.
PharmGKBiPA147358104.

Polymorphism and mutation databases

BioMutaiECSIT.
DMDMi74752234.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 48MitochondrionSequence analysisAdd BLAST48
ChainiPRO_000029198549 – 431Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialAdd BLAST383

Proteomic databases

EPDiQ9BQ95.
MaxQBiQ9BQ95.
PaxDbiQ9BQ95.
PeptideAtlasiQ9BQ95.
PRIDEiQ9BQ95.
TopDownProteomicsiQ9BQ95-1. [Q9BQ95-1]

PTM databases

iPTMnetiQ9BQ95.
PhosphoSitePlusiQ9BQ95.
SwissPalmiQ9BQ95.

Expressioni

Gene expression databases

BgeeiENSG00000130159.
CleanExiHS_ECSIT.
ExpressionAtlasiQ9BQ95. baseline and differential.
GenevisibleiQ9BQ95. HS.

Organism-specific databases

HPAiHPA042979.

Interactioni

Subunit structurei

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).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
APOEP026494EBI-712452,EBI-1222467
FARSAQ9Y2852EBI-712452,EBI-725361
PSEN1P497684EBI-712452,EBI-297277
PSEN2P498104EBI-712452,EBI-2010251

Protein-protein interaction databases

BioGridi119446. 107 interactors.
IntActiQ9BQ95. 58 interactors.
STRINGi9606.ENSP00000270517.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ95.
SMRiQ9BQ95.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ECSIT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3941. Eukaryota.
ENOG41100I6. LUCA.
GeneTreeiENSGT00390000005147.
HOGENOMiHOG000112324.
HOVERGENiHBG059532.
InParanoidiQ9BQ95.
KOiK04405.
OMAiNMADFGV.
OrthoDBiEOG091G07N5.
PhylomeDBiQ9BQ95.
TreeFamiTF314943.

Family and domain databases

InterProiIPR029342. ECIST_C.
IPR010418. ECSIT.
[Graphical view]
PANTHERiPTHR13113. PTHR13113. 1 hit.
PfamiPF06239. ECSIT. 1 hit.
PF14784. ECSIT_C. 1 hit.
[Graphical view]
SMARTiSM01284. ECSIT_Cterm. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BQ95-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSWVQATLLA RGLCRAWGGT CGAALTGTSI SQVPRRLPRG LHCSAAAHSS
60 70 80 90 100
EQSLVPSPPE PRQRPTKALV PFEDLFGQAP GGERDKASFL QTVQKFAEHS
110 120 130 140 150
VRKRGHIDFI YLALRKMREY GVERDLAVYN QLLNIFPKEV FRPRNIIQRI
160 170 180 190 200
FVHYPRQQEC GIAVLEQMEN HGVMPNKETE FLLIQIFGRK SYPMLKLVRL
210 220 230 240 250
KLWFPRFMNV NPFPVPRDLP QDPVELAMFG LRHMEPDLSA RVTIYQVPLP
260 270 280 290 300
KDSTGAADPP QPHIVGIQSP DQQAALARHN PARPVFVEGP FSLWLRNKCV
310 320 330 340 350
YYHILRADLL PPEEREVEET PEEWNLYYPM QLDLEYVRSG WDNYEFDINE
360 370 380 390 400
VEEGPVFAMC MAGAHDQATM AKWIQGLQET NPTLAQIPVV FRLAGSTREL
410 420 430
QTSSAGLEEP PLPEDHQEED DNLQRQQQGQ S
Length:431
Mass (Da):49,148
Last modified:June 1, 2001 - v1
Checksum:i42AFEBFFA6953C80
GO
Isoform 2 (identifier: Q9BQ95-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     267-296: IQSPDQQAALARHNPARPVFVEGPFSLWLR → SGRDAGGVEPLLPDAAGPGVCEEWLGQLRV
     297-431: Missing.

Show »
Length:296
Mass (Da):33,214
Checksum:i69EDA93B95F970E8
GO
Isoform 3 (identifier: Q9BQ95-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     35-248: Missing.

Note: Gene prediction based on EST data.
Show »
Length:217
Mass (Da):24,211
Checksum:i6AB416587472AFD0
GO
Isoform 4 (identifier: Q9BQ95-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     266-296: GIQSPDQQAALARHNPARPVFVEGPFSLWLR → ELTCCPRRRGKWKRRRRSGTSTTRCSWTWSM
     297-431: Missing.

Note: No experimental confirmation available.
Show »
Length:296
Mass (Da):33,938
Checksum:i342042BA474DDFE6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti242V → A in AK314905 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032907278R → C.1 PublicationCorresponds to variant rs34803265dbSNPEnsembl.1
Natural variantiVAR_032908406G → R.Corresponds to variant rs2302971dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04668935 – 248Missing in isoform 3. CuratedAdd BLAST214
Alternative sequenceiVSP_055626266 – 296GIQSP…SLWLR → ELTCCPRRRGKWKRRRRSGT STTRCSWTWSM in isoform 4. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_026345267 – 296IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_026346297 – 431Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST135

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF243044 mRNA. Translation: AAF62100.1.
AK314905 mRNA. No translation available.
CR457204 mRNA. Translation: CAG33485.1.
AC008481 Genomic DNA. No translation available.
BC000193 mRNA. Translation: AAH00193.1.
BC005119 mRNA. Translation: AAH05119.1.
BC008279 mRNA. Translation: AAH08279.1.
CCDSiCCDS12262.1. [Q9BQ95-1]
CCDS45979.1. [Q9BQ95-3]
CCDS45980.1. [Q9BQ95-2]
CCDS59353.1. [Q9BQ95-4]
RefSeqiNP_001135936.1. NM_001142464.2. [Q9BQ95-2]
NP_001135937.1. NM_001142465.2. [Q9BQ95-3]
NP_001230133.1. NM_001243204.1. [Q9BQ95-4]
NP_057665.2. NM_016581.4. [Q9BQ95-1]
UniGeneiHs.515146.

Genome annotation databases

EnsembliENST00000252440; ENSP00000252440; ENSG00000130159. [Q9BQ95-2]
ENST00000270517; ENSP00000270517; ENSG00000130159. [Q9BQ95-1]
ENST00000417981; ENSP00000412712; ENSG00000130159. [Q9BQ95-3]
ENST00000591104; ENSP00000466559; ENSG00000130159. [Q9BQ95-4]
GeneIDi51295.
KEGGihsa:51295.
UCSCiuc002msb.4. human. [Q9BQ95-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF243044 mRNA. Translation: AAF62100.1.
AK314905 mRNA. No translation available.
CR457204 mRNA. Translation: CAG33485.1.
AC008481 Genomic DNA. No translation available.
BC000193 mRNA. Translation: AAH00193.1.
BC005119 mRNA. Translation: AAH05119.1.
BC008279 mRNA. Translation: AAH08279.1.
CCDSiCCDS12262.1. [Q9BQ95-1]
CCDS45979.1. [Q9BQ95-3]
CCDS45980.1. [Q9BQ95-2]
CCDS59353.1. [Q9BQ95-4]
RefSeqiNP_001135936.1. NM_001142464.2. [Q9BQ95-2]
NP_001135937.1. NM_001142465.2. [Q9BQ95-3]
NP_001230133.1. NM_001243204.1. [Q9BQ95-4]
NP_057665.2. NM_016581.4. [Q9BQ95-1]
UniGeneiHs.515146.

3D structure databases

ProteinModelPortaliQ9BQ95.
SMRiQ9BQ95.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119446. 107 interactors.
IntActiQ9BQ95. 58 interactors.
STRINGi9606.ENSP00000270517.

PTM databases

iPTMnetiQ9BQ95.
PhosphoSitePlusiQ9BQ95.
SwissPalmiQ9BQ95.

Polymorphism and mutation databases

BioMutaiECSIT.
DMDMi74752234.

Proteomic databases

EPDiQ9BQ95.
MaxQBiQ9BQ95.
PaxDbiQ9BQ95.
PeptideAtlasiQ9BQ95.
PRIDEiQ9BQ95.
TopDownProteomicsiQ9BQ95-1. [Q9BQ95-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252440; ENSP00000252440; ENSG00000130159. [Q9BQ95-2]
ENST00000270517; ENSP00000270517; ENSG00000130159. [Q9BQ95-1]
ENST00000417981; ENSP00000412712; ENSG00000130159. [Q9BQ95-3]
ENST00000591104; ENSP00000466559; ENSG00000130159. [Q9BQ95-4]
GeneIDi51295.
KEGGihsa:51295.
UCSCiuc002msb.4. human. [Q9BQ95-1]

Organism-specific databases

CTDi51295.
DisGeNETi51295.
GeneCardsiECSIT.
HGNCiHGNC:29548. ECSIT.
HPAiHPA042979.
MIMi608388. gene.
neXtProtiNX_Q9BQ95.
OpenTargetsiENSG00000130159.
PharmGKBiPA147358104.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3941. Eukaryota.
ENOG41100I6. LUCA.
GeneTreeiENSGT00390000005147.
HOGENOMiHOG000112324.
HOVERGENiHBG059532.
InParanoidiQ9BQ95.
KOiK04405.
OMAiNMADFGV.
OrthoDBiEOG091G07N5.
PhylomeDBiQ9BQ95.
TreeFamiTF314943.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130159-MONOMER.
ReactomeiR-HSA-166058. MyD88:Mal cascade initiated on plasma membrane.
R-HSA-6799198. Complex I biogenesis.
R-HSA-975138. TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation.
R-HSA-975871. MyD88 cascade initiated on plasma membrane.

Miscellaneous databases

GenomeRNAii51295.
PROiQ9BQ95.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130159.
CleanExiHS_ECSIT.
ExpressionAtlasiQ9BQ95. baseline and differential.
GenevisibleiQ9BQ95. HS.

Family and domain databases

InterProiIPR029342. ECIST_C.
IPR010418. ECSIT.
[Graphical view]
PANTHERiPTHR13113. PTHR13113. 1 hit.
PfamiPF06239. ECSIT. 1 hit.
PF14784. ECSIT_C. 1 hit.
[Graphical view]
SMARTiSM01284. ECSIT_Cterm. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiECSIT_HUMAN
AccessioniPrimary (citable) accession number: Q9BQ95
Secondary accession number(s): E9PAN9
, K7EMM0, Q96HQ7, Q9NYI1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.