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Q9BQ95

- ECSIT_HUMAN

UniProt

Q9BQ95 - ECSIT_HUMAN

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Protein

Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Gene
ECSIT
Organism
Homo sapiens (Human)
Status
Reviewed - 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.
Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase.

GO - Molecular functioni

  1. oxidoreductase activity, acting on NAD(P)H Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl
  4. signal transducer activity Source: Ensembl

GO - Biological processi

  1. BMP signaling pathway Source: Ensembl
  2. innate immune response Source: UniProtKB-KW
  3. mesoderm formation Source: Ensembl
  4. oxidation-reduction process Source: GOC
  5. regulation of oxidoreductase activity Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Immunity, Innate immunity

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:29548. ECSIT.

Subcellular locationi

Cytoplasm. Nucleus. Mitochondrion 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. mitochondrion Source: UniProtKB
  3. nucleus Source: UniProtKB
  4. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147358104.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4848Mitochondrion Reviewed predictionAdd
BLAST
Chaini49 – 431383Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialPRO_0000291985Add
BLAST

Proteomic databases

MaxQBiQ9BQ95.
PaxDbiQ9BQ95.
PeptideAtlasiQ9BQ95.
PRIDEiQ9BQ95.

PTM databases

PhosphoSiteiQ9BQ95.

Expressioni

Gene expression databases

ArrayExpressiQ9BQ95.
BgeeiQ9BQ95.
CleanExiHS_ECSIT.
GenevestigatoriQ9BQ95.

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 NDUFAF1.1 Publication

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. 45 interactions.
IntActiQ9BQ95. 32 interactions.
STRINGi9606.ENSP00000270517.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ95.

Family & Domainsi

Sequence similaritiesi

Belongs to the ECSIT family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG260596.
HOGENOMiHOG000112324.
HOVERGENiHBG059532.
InParanoidiQ9BQ95.
KOiK04405.
OMAiLRDKCVY.
OrthoDBiEOG76T9RM.
PhylomeDBiQ9BQ95.
TreeFamiTF314943.

Family and domain databases

InterProiIPR029342. ECIST_C.
IPR010418. ECSIT.
[Graphical view]
PANTHERiPTHR13113. PTHR13113. 1 hit.
PfamiPF14784. ECIST_Cterm. 1 hit.
PF06239. ECSIT. 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. Align

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

MSWVQATLLA RGLCRAWGGT CGAALTGTSI SQVPRRLPRG LHCSAAAHSS    50
EQSLVPSPPE PRQRPTKALV PFEDLFGQAP GGERDKASFL QTVQKFAEHS 100
VRKRGHIDFI YLALRKMREY GVERDLAVYN QLLNIFPKEV FRPRNIIQRI 150
FVHYPRQQEC GIAVLEQMEN HGVMPNKETE FLLIQIFGRK SYPMLKLVRL 200
KLWFPRFMNV NPFPVPRDLP QDPVELAMFG LRHMEPDLSA RVTIYQVPLP 250
KDSTGAADPP QPHIVGIQSP DQQAALARHN PARPVFVEGP FSLWLRNKCV 300
YYHILRADLL PPEEREVEET PEEWNLYYPM QLDLEYVRSG WDNYEFDINE 350
VEEGPVFAMC MAGAHDQATM AKWIQGLQET NPTLAQIPVV FRLAGSTREL 400
QTSSAGLEEP PLPEDHQEED DNLQRQQQGQ S 431
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti278 – 2781R → C.1 Publication
Corresponds to variant rs34803265 [ dbSNP | Ensembl ].
VAR_032907
Natural varianti406 – 4061G → R.
Corresponds to variant rs2302971 [ dbSNP | Ensembl ].
VAR_032908

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei35 – 248214Missing in isoform 3. VSP_046689Add
BLAST
Alternative sequencei266 – 29631GIQSP…SLWLR → ELTCCPRRRGKWKRRRRSGT STTRCSWTWSM in isoform 4. VSP_055626Add
BLAST
Alternative sequencei267 – 29630IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2. VSP_026345Add
BLAST
Alternative sequencei297 – 431135Missing in isoform 2 and isoform 4. VSP_026346Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti242 – 2421V → A in AK314905. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_001135936.1. NM_001142464.2. [Q9BQ95-2]
NP_001135937.1. NM_001142465.2. [Q9BQ95-3]
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.
GeneIDi51295.
KEGGihsa:51295.
UCSCiuc002msb.3. human. [Q9BQ95-1]
uc010dyd.3. human. [Q9BQ95-2]

Polymorphism databases

DMDMi74752234.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
RefSeqi NP_001135936.1. NM_001142464.2. [Q9BQ95-2 ]
NP_001135937.1. NM_001142465.2. [Q9BQ95-3 ]
NP_057665.2. NM_016581.4. [Q9BQ95-1 ]
UniGenei Hs.515146.

3D structure databases

ProteinModelPortali Q9BQ95.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119446. 45 interactions.
IntActi Q9BQ95. 32 interactions.
STRINGi 9606.ENSP00000270517.

PTM databases

PhosphoSitei Q9BQ95.

Polymorphism databases

DMDMi 74752234.

Proteomic databases

MaxQBi Q9BQ95.
PaxDbi Q9BQ95.
PeptideAtlasi Q9BQ95.
PRIDEi Q9BQ95.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252440 ; ENSP00000252440 ; ENSG00000130159 . [Q9BQ95-2 ]
ENST00000270517 ; ENSP00000270517 ; ENSG00000130159 . [Q9BQ95-1 ]
ENST00000417981 ; ENSP00000412712 ; ENSG00000130159 . [Q9BQ95-3 ]
ENST00000591104 ; ENSP00000466559 ; ENSG00000130159 .
GeneIDi 51295.
KEGGi hsa:51295.
UCSCi uc002msb.3. human. [Q9BQ95-1 ]
uc010dyd.3. human. [Q9BQ95-2 ]

Organism-specific databases

CTDi 51295.
GeneCardsi GC19M011616.
HGNCi HGNC:29548. ECSIT.
HPAi HPA042979.
MIMi 608388. gene.
neXtProti NX_Q9BQ95.
PharmGKBi PA147358104.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG260596.
HOGENOMi HOG000112324.
HOVERGENi HBG059532.
InParanoidi Q9BQ95.
KOi K04405.
OMAi LRDKCVY.
OrthoDBi EOG76T9RM.
PhylomeDBi Q9BQ95.
TreeFami TF314943.

Miscellaneous databases

GenomeRNAii 51295.
NextBioi 54573.
PROi Q9BQ95.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BQ95.
Bgeei Q9BQ95.
CleanExi HS_ECSIT.
Genevestigatori Q9BQ95.

Family and domain databases

InterProi IPR029342. ECIST_C.
IPR010418. ECSIT.
[Graphical view ]
PANTHERi PTHR13113. PTHR13113. 1 hit.
Pfami PF14784. ECIST_Cterm. 1 hit.
PF06239. ECSIT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Nucleotide sequence of the human ECSIT cDNA."
    Fitzgerald S.N., Brady K.J., Moynagh P.N.
    Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CYS-278.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Eye, Lung and Pancreas.
  6. "Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly."
    Vogel R.O., Janssen R.J.R.J., van den Brand M.A.M., Dieteren C.E.J., Verkaart S., Koopman W.J.H., Willems P.H.G.M., Pluk W., van den Heuvel L.P.W.J., Smeitink J.A.M., Nijtmans L.G.J.
    Genes Dev. 21:615-624(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH NDUFAF1.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: September 3, 2014
This is version 93 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

External Data

Dasty 3

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