Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BQ95

- ECSIT_HUMAN

UniProt

Q9BQ95 - ECSIT_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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 1 Publication. Nucleus 1 Publication. Mitochondrion 1 Publication

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA147358104.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4848MitochondrionSequence AnalysisAdd
    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.By similarity1 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. 33 interactions.
    STRINGi9606.ENSP00000270517.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BQ95.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ECSIT family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti242 – 2421V → A in AK314905. (PubMed:14702039)Curated

    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. CuratedVSP_046689Add
    BLAST
    Alternative sequencei266 – 29631GIQSP…SLWLR → ELTCCPRRRGKWKRRRRSGT STTRCSWTWSM in isoform 4. 1 PublicationVSP_055626Add
    BLAST
    Alternative sequencei267 – 29630IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2. 1 PublicationVSP_026345Add
    BLAST
    Alternative sequencei297 – 431135Missing in isoform 2 and isoform 4. 2 PublicationsVSP_026346Add
    BLAST

    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

    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. 33 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

    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

    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: October 1, 2014
    This is version 94 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