UniProtKB - Q9BQ95 (ECSIT_HUMAN)
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
ECSIT
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 similarityAs part of the MCIA complex, involved in the assembly of the mitochondrial complex I.
1 PublicationGO - Biological processi
- innate immune response Source: UniProtKB-KW
- mitochondrial respiratory chain complex I assembly Source: ComplexPortal
- regulation of oxidoreductase activity Source: UniProtKB
- regulation of protein complex stability Source: UniProtKB
Keywordsi
Biological process | Immunity, Innate immunity |
Enzyme and pathway databases
PathwayCommonsi | Q9BQ95 |
Reactomei | R-HSA-166058, MyD88:MAL(TIRAP) 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 |
SignaLinki | Q9BQ95 |
SIGNORi | Q9BQ95 |
Names & Taxonomyi
Protein namesi | Recommended name: Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialCuratedAlternative name(s): Protein SITPEC |
Gene namesi | Name:ECSITImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29548, ECSIT |
MIMi | 608388, gene |
neXtProti | NX_Q9BQ95 |
VEuPathDBi | HostDB:ENSG00000130159 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Mitochondrion
- Mitochondrion 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Mitochondrion, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 51295 |
OpenTargetsi | ENSG00000130159 |
PharmGKBi | PA147358104 |
Miscellaneous databases
Pharosi | Q9BQ95, Tbio |
Genetic variation databases
BioMutai | ECSIT |
DMDMi | 74752234 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 48 | MitochondrionSequence analysisAdd BLAST | 48 | |
ChainiPRO_0000291985 | 49 – 431 | Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialAdd BLAST | 383 |
Proteomic databases
EPDi | Q9BQ95 |
jPOSTi | Q9BQ95 |
MassIVEi | Q9BQ95 |
MaxQBi | Q9BQ95 |
PaxDbi | Q9BQ95 |
PeptideAtlasi | Q9BQ95 |
PRIDEi | Q9BQ95 |
ProteomicsDBi | 19054 78645 [Q9BQ95-1] 78646 [Q9BQ95-2] |
TopDownProteomicsi | Q9BQ95-1 [Q9BQ95-1] |
PTM databases
iPTMneti | Q9BQ95 |
PhosphoSitePlusi | Q9BQ95 |
SwissPalmi | Q9BQ95 |
Expressioni
Gene expression databases
Bgeei | ENSG00000130159, Expressed in apex of heart and 228 other tissues |
ExpressionAtlasi | Q9BQ95, baseline and differential |
Genevisiblei | Q9BQ95, HS |
Organism-specific databases
HPAi | ENSG00000130159, Low tissue specificity |
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 that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651).
Interacts with NDUFAF1 (PubMed:17344420).
Interacts with ACAD9 (PubMed:20816094).
Interacts with TRIM59 (By similarity).
Interacts with TMEM70 and TMEM242 (PubMed:33753518).
By similarity4 PublicationsBinary interactionsi
Q9BQ95
Protein-protein interaction databases
BioGRIDi | 119446, 264 interactors |
ComplexPortali | CPX-6322, Mitochondrial complex I intermediate assembly (MCIA) complex |
CORUMi | Q9BQ95 |
IntActi | Q9BQ95, 106 interactors |
MINTi | Q9BQ95 |
STRINGi | 9606.ENSP00000270517 |
Miscellaneous databases
RNActi | Q9BQ95, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9BQ95 |
SASBDBi | Q9BQ95 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 400 – 431 | DisorderedSequence analysisAdd BLAST | 32 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3941, Eukaryota |
GeneTreei | ENSGT00390000005147 |
HOGENOMi | CLU_046917_0_0_1 |
InParanoidi | Q9BQ95 |
OMAi | FGQHNVH |
OrthoDBi | 995360at2759 |
PhylomeDBi | Q9BQ95 |
TreeFami | TF314943 |
Family and domain databases
InterProi | View protein in InterPro IPR029342, ECIST_C IPR010418, ECSIT |
PANTHERi | PTHR13113, PTHR13113, 1 hit |
Pfami | View protein in Pfam PF06239, ECSIT, 1 hit PF14784, ECSIT_C, 1 hit |
SMARTi | View protein in SMART SM01284, ECSIT_Cterm, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KTF5 | J3KTF5_HUMAN | Evolutionarily conserved signaling ... | ECSIT | 315 | Annotation score: | ||
K7ESM8 | K7ESM8_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 82 | Annotation score: | ||
K7EPL5 | K7EPL5_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 227 | Annotation score: | ||
K7EJI1 | K7EJI1_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 102 | Annotation score: | ||
K7EN32 | K7EN32_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 267 | Annotation score: | ||
K7EIK2 | K7EIK2_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 59 | Annotation score: | ||
K7EJG5 | K7EJG5_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 71 | Annotation score: | ||
K7EM98 | K7EM98_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 24 | Annotation score: | ||
A0A8I5KR62 | A0A8I5KR62_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 102 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 242 | V → A in AK314905 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032907 | 278 | R → C1 PublicationCorresponds to variant dbSNP:rs34803265Ensembl. | 1 | |
Natural variantiVAR_032908 | 406 | G → R. Corresponds to variant dbSNP:rs2302971Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046689 | 35 – 248 | Missing in isoform 3. CuratedAdd BLAST | 214 | |
Alternative sequenceiVSP_055626 | 266 – 296 | GIQSP…SLWLR → ELTCCPRRRGKWKRRRRSGT STTRCSWTWSM in isoform 4. 1 PublicationAdd BLAST | 31 | |
Alternative sequenceiVSP_026345 | 267 – 296 | IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2. 1 PublicationAdd BLAST | 30 | |
Alternative sequenceiVSP_026346 | 297 – 431 | Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 135 |
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 |
CCDSi | CCDS12262.1 [Q9BQ95-1] CCDS45979.1 [Q9BQ95-3] CCDS45980.1 [Q9BQ95-2] CCDS59353.1 [Q9BQ95-4] |
RefSeqi | NP_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] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS12262.1 [Q9BQ95-1] CCDS45979.1 [Q9BQ95-3] CCDS45980.1 [Q9BQ95-2] CCDS59353.1 [Q9BQ95-4] |
RefSeqi | NP_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] |
3D structure databases
AlphaFoldDBi | Q9BQ95 |
SASBDBi | Q9BQ95 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 119446, 264 interactors |
ComplexPortali | CPX-6322, Mitochondrial complex I intermediate assembly (MCIA) complex |
CORUMi | Q9BQ95 |
IntActi | Q9BQ95, 106 interactors |
MINTi | Q9BQ95 |
STRINGi | 9606.ENSP00000270517 |
PTM databases
iPTMneti | Q9BQ95 |
PhosphoSitePlusi | Q9BQ95 |
SwissPalmi | Q9BQ95 |
Genetic variation databases
BioMutai | ECSIT |
DMDMi | 74752234 |
Proteomic databases
EPDi | Q9BQ95 |
jPOSTi | Q9BQ95 |
MassIVEi | Q9BQ95 |
MaxQBi | Q9BQ95 |
PaxDbi | Q9BQ95 |
PeptideAtlasi | Q9BQ95 |
PRIDEi | Q9BQ95 |
ProteomicsDBi | 19054 78645 [Q9BQ95-1] 78646 [Q9BQ95-2] |
TopDownProteomicsi | Q9BQ95-1 [Q9BQ95-1] |
Protocols and materials databases
Antibodypediai | 13189, 225 antibodies from 29 providers |
DNASUi | 51295 |
Genome annotation databases
Organism-specific databases
CTDi | 51295 |
DisGeNETi | 51295 |
GeneCardsi | ECSIT |
HGNCi | HGNC:29548, ECSIT |
HPAi | ENSG00000130159, Low tissue specificity |
MIMi | 608388, gene |
neXtProti | NX_Q9BQ95 |
OpenTargetsi | ENSG00000130159 |
PharmGKBi | PA147358104 |
VEuPathDBi | HostDB:ENSG00000130159 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3941, Eukaryota |
GeneTreei | ENSGT00390000005147 |
HOGENOMi | CLU_046917_0_0_1 |
InParanoidi | Q9BQ95 |
OMAi | FGQHNVH |
OrthoDBi | 995360at2759 |
PhylomeDBi | Q9BQ95 |
TreeFami | TF314943 |
Enzyme and pathway databases
PathwayCommonsi | Q9BQ95 |
Reactomei | R-HSA-166058, MyD88:MAL(TIRAP) 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 |
SignaLinki | Q9BQ95 |
SIGNORi | Q9BQ95 |
Miscellaneous databases
BioGRID-ORCSi | 51295, 88 hits in 1097 CRISPR screens |
ChiTaRSi | ECSIT, human |
GenomeRNAii | 51295 |
Pharosi | Q9BQ95, Tbio |
PROi | PR:Q9BQ95 |
RNActi | Q9BQ95, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130159, Expressed in apex of heart and 228 other tissues |
ExpressionAtlasi | Q9BQ95, baseline and differential |
Genevisiblei | Q9BQ95, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029342, ECIST_C IPR010418, ECSIT |
PANTHERi | PTHR13113, PTHR13113, 1 hit |
Pfami | View protein in Pfam PF06239, ECSIT, 1 hit PF14784, ECSIT_C, 1 hit |
SMARTi | View protein in SMART SM01284, ECSIT_Cterm, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ECSIT_HUMAN | |
Accessioni | Q9BQ95Primary (citable) accession number: Q9BQ95 Secondary accession number(s): E9PAN9 Q9NYI1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 26, 2007 |
Last sequence update: | June 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families