Q9BQ95 (ECSIT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Alternative name(s):
Protein SITPEC

Gene names

Name:

ECSIT

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	431 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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, CIA30, ECSIT, and ACAD9 By similarity. Interacts with NDUFAF1. Ref.4
Subcellular location	Cytoplasm. Nucleus. Mitochondrion Ref.4.
Sequence similarities	Belongs to the ECSIT family.

Ontologies

Keywords
Biological process	Immunity Innate immunity
Cellular component	Cytoplasm Mitochondrion Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from electronic annotation. Source: Compara innate immune response Inferred from electronic annotation. Source: UniProtKB-KW mesoderm formation Inferred from electronic annotation. Source: Compara regulation of oxidoreductase activity Inferred from direct assay Ref.4. Source: UniProtKB
Cellular_component	mitochondrion Inferred from direct assay Ref.4. Source: UniProtKB nucleus Inferred from direct assay Ref.4. Source: UniProtKB transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	oxidoreductase activity, acting on NAD(P)H Inferred from direct assay Ref.4. Source: UniProtKB sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara signal transducer activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
APOE	P02649	4	EBI-712452,EBI-1222467
FARSA	Q9Y285	2	EBI-712452,EBI-725361
PSEN1	P49768	4	EBI-712452,EBI-297277
PSEN2	P49810	4	EBI-712452,EBI-2010251

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 48	48	Mitochondrion Potential
	Chain	49 – 431	383	Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial		PRO_0000291985
Natural variations
	Alternative sequence	267 – 296	30	IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2.		VSP_026345
	Alternative sequence	297 – 431	135	Missing in isoform 2.		VSP_026346
	Natural variant	278	1	R → C. Ref.1 Corresponds to variant rs34803265 [ dbSNP | Ensembl ].		VAR_032907
	Natural variant	406	1	G → R. Corresponds to variant rs2302971 [ dbSNP | Ensembl ].		VAR_032908

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 42AFEBFFA6953C80	FASTA	431	49,148
	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
	Isoform 2 [UniParc]. Checksum: 69EDA93B95F970E8	FASTA	296	33,214
	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 RVTIYQVPLP KDSTGAADPP QPHIVGSGRD AGGVEPLLPD AAGPGVCEEW LGQLRV

References

	« Hide 'large scale' referencesShow '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 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.
[4]	"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, MASS SPECTROMETRY, INTERACTION WITH NDUFAF1.
[5]	"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. BC000193 mRNA. Translation: AAH00193.1. BC005119 mRNA. Translation: AAH05119.1. BC008279 mRNA. Translation: AAH08279.1.
IPI	IPI00063188. IPI00106506.
RefSeq	NP_001135936.1. NM_001142464.2. NP_057665.2. NM_016581.4.
UniGene	Hs.515146.
3D structure databases
ProteinModelPortal	Q9BQ95.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BQ95. 30 interactions.
STRING	9606.ENSP00000270517.
PTM databases
PhosphoSite	Q9BQ95.
Polymorphism databases
DMDM	74752234.
Proteomic databases
PaxDb	Q9BQ95.
PeptideAtlas	Q9BQ95.
PRIDE	Q9BQ95.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252440; ENSP00000252440; ENSG00000130159. ENST00000270517; ENSP00000270517; ENSG00000130159.
GeneID	51295.
KEGG	hsa:51295.
UCSC	uc002msb.3. human. uc010dyd.3. human.
Organism-specific databases
CTD	51295.
GeneCards	GC19M011616.
HGNC	HGNC:29548. ECSIT.
HPA	HPA042979.
MIM	608388. gene.
neXtProt	NX_Q9BQ95.
PharmGKB	PA147358104.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG260596.
HOGENOM	HOG000112324.
HOVERGEN	HBG059532.
InParanoid	Q9BQ95.
KO	K04405.
OMA	MPEFGVE.
PhylomeDB	Q9BQ95.
Gene expression databases
ArrayExpress	Q9BQ95.
Bgee	Q9BQ95.
CleanEx	HS_ECSIT.
Genevestigator	Q9BQ95.
Family and domain databases
InterPro	IPR010418. ECSIT. [Graphical view]
PANTHER	PTHR13113. PTHR13113. 1 hit.
Pfam	PF06239. ECSIT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51295.
NextBio	54573.
SOURCE	Search...

Entry information

Entry name

ECSIT_HUMAN

Accession

Primary (citable) accession number: Q9BQ95
Secondary accession number(s): Q96HQ7, Q9NYI1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.