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Q9BQ95 (ECSIT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Alternative name(s):
Protein SITPEC
Gene names
Name:ECSIT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length431 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.5

Subcellular location

Cytoplasm. Nucleus. Mitochondrion Ref.5.

Sequence similarities

Belongs to the ECSIT family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BQ95-1)

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.
Isoform 2 (identifier: Q9BQ95-2)

The sequence of this isoform differs from the canonical sequence as follows:
     267-296: IQSPDQQAALARHNPARPVFVEGPFSLWLR → SGRDAGGVEPLLPDAAGPGVCEEWLGQLRV
     297-431: Missing.
Isoform 3 (identifier: Q9BQ95-3)

The sequence of this isoform differs from the canonical sequence as follows:
     35-248: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4848Mitochondrion Potential
Chain49 – 431383Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
PRO_0000291985

Natural variations

Alternative sequence35 – 248214Missing in isoform 3.
VSP_046689
Alternative sequence267 – 29630IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2.
VSP_026345
Alternative sequence297 – 431135Missing in isoform 2.
VSP_026346
Natural variant2781R → C. Ref.1
Corresponds to variant rs34803265 [ dbSNP | Ensembl ].
VAR_032907
Natural variant4061G → R.
Corresponds to variant rs2302971 [ dbSNP | Ensembl ].
VAR_032908

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 42AFEBFFA6953C80

FASTA43149,148
        10         20         30         40         50         60 
MSWVQATLLA RGLCRAWGGT CGAALTGTSI SQVPRRLPRG LHCSAAAHSS EQSLVPSPPE 

        70         80         90        100        110        120 
PRQRPTKALV PFEDLFGQAP GGERDKASFL QTVQKFAEHS VRKRGHIDFI YLALRKMREY 

       130        140        150        160        170        180 
GVERDLAVYN QLLNIFPKEV FRPRNIIQRI FVHYPRQQEC GIAVLEQMEN HGVMPNKETE 

       190        200        210        220        230        240 
FLLIQIFGRK SYPMLKLVRL KLWFPRFMNV NPFPVPRDLP QDPVELAMFG LRHMEPDLSA 

       250        260        270        280        290        300 
RVTIYQVPLP KDSTGAADPP QPHIVGIQSP DQQAALARHN PARPVFVEGP FSLWLRNKCV 

       310        320        330        340        350        360 
YYHILRADLL PPEEREVEET PEEWNLYYPM QLDLEYVRSG WDNYEFDINE VEEGPVFAMC 

       370        380        390        400        410        420 
MAGAHDQATM AKWIQGLQET NPTLAQIPVV FRLAGSTREL QTSSAGLEEP PLPEDHQEED 

       430 
DNLQRQQQGQ S 

« Hide

Isoform 2 [UniParc].

Checksum: 69EDA93B95F970E8
Show »

FASTA29633,214
Isoform 3 [UniParc].

Checksum: 6AB416587472AFD0
Show »

FASTA21724,211

References

« Hide 'large scale' references
[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]"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).
[3]"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. expand/collapse author list , 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].
[4]"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.
[5]"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.
[6]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF243044 mRNA. Translation: AAF62100.1.
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.
CCDSCCDS12262.1. [Q9BQ95-1]
CCDS45979.1. [Q9BQ95-3]
CCDS45980.1. [Q9BQ95-2]
RefSeqNP_001135936.1. NM_001142464.2. [Q9BQ95-2]
NP_001135937.1. NM_001142465.2. [Q9BQ95-3]
NP_057665.2. NM_016581.4. [Q9BQ95-1]
UniGeneHs.515146.

3D structure databases

ProteinModelPortalQ9BQ95.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119446. 45 interactions.
IntActQ9BQ95. 32 interactions.
STRING9606.ENSP00000270517.

PTM databases

PhosphoSiteQ9BQ95.

Polymorphism databases

DMDM74752234.

Proteomic databases

MaxQBQ9BQ95.
PaxDbQ9BQ95.
PeptideAtlasQ9BQ95.
PRIDEQ9BQ95.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252440; ENSP00000252440; ENSG00000130159. [Q9BQ95-2]
ENST00000270517; ENSP00000270517; ENSG00000130159. [Q9BQ95-1]
ENST00000417981; ENSP00000412712; ENSG00000130159. [Q9BQ95-3]
GeneID51295.
KEGGhsa:51295.
UCSCuc002msb.3. human. [Q9BQ95-1]
uc010dyd.3. human. [Q9BQ95-2]

Organism-specific databases

CTD51295.
GeneCardsGC19M011616.
HGNCHGNC:29548. ECSIT.
HPAHPA042979.
MIM608388. gene.
neXtProtNX_Q9BQ95.
PharmGKBPA147358104.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG260596.
HOGENOMHOG000112324.
HOVERGENHBG059532.
InParanoidQ9BQ95.
KOK04405.
OMALRDKCVY.
OrthoDBEOG76T9RM.
PhylomeDBQ9BQ95.
TreeFamTF314943.

Gene expression databases

ArrayExpressQ9BQ95.
BgeeQ9BQ95.
CleanExHS_ECSIT.
GenevestigatorQ9BQ95.

Family and domain databases

InterProIPR029342. ECIST_C.
IPR010418. ECSIT.
[Graphical view]
PANTHERPTHR13113. PTHR13113. 1 hit.
PfamPF14784. ECIST_Cterm. 1 hit.
PF06239. ECSIT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi51295.
NextBio54573.
PROQ9BQ95.
SOURCESearch...

Entry information

Entry nameECSIT_HUMAN
AccessionPrimary (citable) accession number: Q9BQ95
Secondary accession number(s): E9PAN9, Q96HQ7, Q9NYI1
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM