Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
The new UniProt website is here! Take me to UniProt BETA

UniProtKB - Q9BQ95 (ECSIT_HUMAN)

Entry version 149 (29 Sep 2021)
Sequence version 1 (01 Jun 2001)
Previous versions | rss
Add a publicationFeedback
Protein

Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial

Gene

ECSIT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processImmunity, Innate immunity

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BQ95

Reactome - a knowledgebase of biological pathways and processes

More...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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9BQ95

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Alternative name(s):
Protein SITPEC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ECSIT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29548, ECSIT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608388, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BQ95

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000130159

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		51295

Open Targets

More...OpenTargetsi		ENSG00000130159

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA147358104

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BQ95, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ECSIT

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752234

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 48MitochondrionSequence analysisAdd BLAST48
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000029198549 – 431Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialAdd BLAST383

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BQ95

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BQ95

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BQ95

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BQ95

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BQ95

PeptideAtlas

More...PeptideAtlasi		Q9BQ95

PRoteomics IDEntifications database

More...PRIDEi		Q9BQ95

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19054
78645 [Q9BQ95-1]
78646 [Q9BQ95-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9BQ95-1 [Q9BQ95-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BQ95

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BQ95

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9BQ95

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130159, Expressed in apex of heart and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BQ95, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BQ95, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130159, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119446, 193 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6322, Mitochondrial complex I intermediate assembly (MCIA) complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BQ95

Protein interaction database and analysis system

More...IntActi		Q9BQ95, 102 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000270517

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BQ95, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Small Angle Scattering Biological Data Bank

More...SASBDBi		Q9BQ95

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BQ95

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni400 – 431DisorderedSequence analysisAdd BLAST32

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ECSIT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3941, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005147

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_046917_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BQ95

Identification of Orthologs from Complete Genome Data

More...OMAi		NMADFGV

Database of Orthologous Groups

More...OrthoDBi		995360at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BQ95

TreeFam database of animal gene trees

More...TreeFami		TF314943

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029342, ECIST_C
IPR010418, ECSIT

The PANTHER Classification System

More...PANTHERi		PTHR13113, PTHR13113, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06239, ECSIT, 1 hit
PF14784, ECSIT_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01284, ECSIT_Cterm, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BQ95-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        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
Length:431
Mass (Da):49,148
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

Show »
Length:296
Mass (Da):33,938
Checksum:i342042BA474DDFE6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KTF5J3KTF5_HUMAN
Evolutionarily conserved signaling ...
ECSIT
223Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ESM8K7ESM8_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPL5K7EPL5_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
227Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EN32K7EN32_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJI1K7EJI1_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EIK2K7EIK2_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EJG5K7EJG5_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EM98K7EM98_HUMAN
Evolutionarily conserved-signaling ...
ECSIT
24Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti242V → A in AK314905 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_032907278R → C1 PublicationCorresponds to variant dbSNP:rs34803265Ensembl.1
Natural variantiVAR_032908406G → R. Corresponds to variant dbSNP:rs2302971Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04668935 – 248Missing in isoform 3. CuratedAdd BLAST214
Alternative sequenceiVSP_055626266 – 296GIQSP…SLWLR → ELTCCPRRRGKWKRRRRSGT STTRCSWTWSM in isoform 4. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_026345267 – 296IQSPD…SLWLR → SGRDAGGVEPLLPDAAGPGV CEEWLGQLRV in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_026346297 – 431Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST135

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12262.1 [Q9BQ95-1]
CCDS45979.1 [Q9BQ95-3]
CCDS45980.1 [Q9BQ95-2]
CCDS59353.1 [Q9BQ95-4]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000252440; ENSP00000252440; ENSG00000130159 [Q9BQ95-2]
ENST00000270517; ENSP00000270517; ENSG00000130159 [Q9BQ95-1]
ENST00000417981; ENSP00000412712; ENSG00000130159 [Q9BQ95-3]
ENST00000591104; ENSP00000466559; ENSG00000130159 [Q9BQ95-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51295

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51295

UCSC genome browser

More...UCSCi		uc002msb.4, human [Q9BQ95-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS12262.1 [Q9BQ95-1]
CCDS45979.1 [Q9BQ95-3]
CCDS45980.1 [Q9BQ95-2]
CCDS59353.1 [Q9BQ95-4]
RefSeqiNP_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

SASBDBiQ9BQ95
SMRiQ9BQ95
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119446, 193 interactors
ComplexPortaliCPX-6322, Mitochondrial complex I intermediate assembly (MCIA) complex
CORUMiQ9BQ95
IntActiQ9BQ95, 102 interactors
STRINGi9606.ENSP00000270517

PTM databases

iPTMnetiQ9BQ95
PhosphoSitePlusiQ9BQ95
SwissPalmiQ9BQ95

Genetic variation databases

BioMutaiECSIT
DMDMi74752234

Proteomic databases

EPDiQ9BQ95
jPOSTiQ9BQ95
MassIVEiQ9BQ95
MaxQBiQ9BQ95
PaxDbiQ9BQ95
PeptideAtlasiQ9BQ95
PRIDEiQ9BQ95
ProteomicsDBi19054
78645 [Q9BQ95-1]
78646 [Q9BQ95-2]
TopDownProteomicsiQ9BQ95-1 [Q9BQ95-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13189, 225 antibodies

The DNASU plasmid repository

More...DNASUi		51295

Genome annotation databases

EnsembliENST00000252440; ENSP00000252440; ENSG00000130159 [Q9BQ95-2]
ENST00000270517; ENSP00000270517; ENSG00000130159 [Q9BQ95-1]
ENST00000417981; ENSP00000412712; ENSG00000130159 [Q9BQ95-3]
ENST00000591104; ENSP00000466559; ENSG00000130159 [Q9BQ95-4]
GeneIDi51295
KEGGihsa:51295
UCSCiuc002msb.4, human [Q9BQ95-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51295
DisGeNETi51295

GeneCards: human genes, protein and diseases

More...GeneCardsi		ECSIT
HGNCiHGNC:29548, ECSIT
HPAiENSG00000130159, Low tissue specificity
MIMi608388, gene
neXtProtiNX_Q9BQ95
OpenTargetsiENSG00000130159
PharmGKBiPA147358104
VEuPathDBiHostDB:ENSG00000130159

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3941, Eukaryota
GeneTreeiENSGT00390000005147
HOGENOMiCLU_046917_0_0_1
InParanoidiQ9BQ95
OMAiNMADFGV
OrthoDBi995360at2759
PhylomeDBiQ9BQ95
TreeFamiTF314943

Enzyme and pathway databases

PathwayCommonsiQ9BQ95
ReactomeiR-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
SIGNORiQ9BQ95

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51295, 82 hits in 1038 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ECSIT, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		51295
PharosiQ9BQ95, Tbio

Protein Ontology

More...PROi		PR:Q9BQ95
RNActiQ9BQ95, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130159, Expressed in apex of heart and 228 other tissues
ExpressionAtlasiQ9BQ95, baseline and differential
GenevisibleiQ9BQ95, HS

Family and domain databases

InterProiView protein in InterPro
IPR029342, ECIST_C
IPR010418, ECSIT
PANTHERiPTHR13113, PTHR13113, 1 hit
PfamiView protein in Pfam
PF06239, ECSIT, 1 hit
PF14784, ECSIT_C, 1 hit
SMARTiView protein in SMART
SM01284, ECSIT_Cterm, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiECSIT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BQ95
Secondary accession number(s): E9PAN9
, K7EMM0, Q96HQ7, Q9NYI1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 1, 2001
Last modified: September 29, 2021
This is version 149 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again