UniProtKB - Q9BQ95 (ECSIT_HUMAN)
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
ECSIT
Functioni
GO - Molecular functioni
- oxidoreductase activity, acting on NAD(P)H Source: UniProtKB
GO - Biological processi
- innate immune response Source: UniProtKB-KW
- mitochondrial respiratory chain complex I assembly Source: Reactome
- regulation of oxidoreductase activity Source: UniProtKB
Keywordsi
Biological process | Immunity, Innate immunity |
Enzyme and pathway databases
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 |
Names & Taxonomyi
Protein namesi | Recommended name: Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialAlternative name(s): Protein SITPEC |
Gene namesi | Name:ECSIT |
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 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Nucleus
- Nucleus 1 Publication
Other locations
- 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 |
Polymorphism and mutation 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 213 organ(s), highest expression level in apex of heart |
ExpressionAtlasi | Q9BQ95 baseline and differential |
Genevisiblei | Q9BQ95 HS |
Organism-specific databases
HPAi | HPA042979 |
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 similarityBinary interactionsi
Protein-protein interaction databases
BioGridi | 119446, 122 interactors |
CORUMi | Q9BQ95 |
IntActi | Q9BQ95, 99 interactors |
MINTi | Q9BQ95 |
STRINGi | 9606.ENSP00000270517 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3941 Eukaryota ENOG41100I6 LUCA |
GeneTreei | ENSGT00390000005147 |
HOGENOMi | HOG000112324 |
InParanoidi | Q9BQ95 |
KOi | K04405 |
OMAi | RSVHQQD |
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 8 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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KTF5 | J3KTF5_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 223 | Annotation score: | ||
K7ESM8 | K7ESM8_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 82 | Annotation score: | ||
K7EPL5 | K7EPL5_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 227 | Annotation score: | ||
K7EIK2 | K7EIK2_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 59 | Annotation score: | ||
K7EJG5 | K7EJG5_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 71 | Annotation score: | ||
K7EJI1 | K7EJI1_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 102 | Annotation score: | ||
K7EN32 | K7EN32_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 267 | Annotation score: | ||
K7EM98 | K7EM98_HUMAN | Evolutionarily conserved-signaling ... | ECSIT | 24 | 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
Ensembli | ENST00000252440; ENSP00000252440; ENSG00000130159 [Q9BQ95-2] ENST00000270517; ENSP00000270517; ENSG00000130159 [Q9BQ95-1] ENST00000417981; ENSP00000412712; ENSG00000130159 [Q9BQ95-3] ENST00000591104; ENSP00000466559; ENSG00000130159 [Q9BQ95-4] |
GeneIDi | 51295 |
KEGGi | hsa:51295 |
UCSCi | uc002msb.4 human [Q9BQ95-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar 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
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 119446, 122 interactors |
CORUMi | Q9BQ95 |
IntActi | Q9BQ95, 99 interactors |
MINTi | Q9BQ95 |
STRINGi | 9606.ENSP00000270517 |
PTM databases
iPTMneti | Q9BQ95 |
PhosphoSitePlusi | Q9BQ95 |
SwissPalmi | Q9BQ95 |
Polymorphism and mutation 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] |
Genome annotation databases
Ensembli | ENST00000252440; ENSP00000252440; ENSG00000130159 [Q9BQ95-2] ENST00000270517; ENSP00000270517; ENSG00000130159 [Q9BQ95-1] ENST00000417981; ENSP00000412712; ENSG00000130159 [Q9BQ95-3] ENST00000591104; ENSP00000466559; ENSG00000130159 [Q9BQ95-4] |
GeneIDi | 51295 |
KEGGi | hsa:51295 |
UCSCi | uc002msb.4 human [Q9BQ95-1] |
Organism-specific databases
CTDi | 51295 |
DisGeNETi | 51295 |
GeneCardsi | ECSIT |
HGNCi | HGNC:29548 ECSIT |
HPAi | HPA042979 |
MIMi | 608388 gene |
neXtProti | NX_Q9BQ95 |
OpenTargetsi | ENSG00000130159 |
PharmGKBi | PA147358104 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3941 Eukaryota ENOG41100I6 LUCA |
GeneTreei | ENSGT00390000005147 |
HOGENOMi | HOG000112324 |
InParanoidi | Q9BQ95 |
KOi | K04405 |
OMAi | RSVHQQD |
OrthoDBi | 995360at2759 |
PhylomeDBi | Q9BQ95 |
TreeFami | TF314943 |
Enzyme and pathway databases
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 |
Miscellaneous databases
ChiTaRSi | ECSIT human |
GenomeRNAii | 51295 |
Pharosi | Q9BQ95 |
PROi | PR:Q9BQ95 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000130159 Expressed in 213 organ(s), highest expression level in apex of heart |
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 |
ProtoNeti | Search... |
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: | October 16, 2019 | |
This is version 138 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot