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Entry version 200 (08 May 2019)
Sequence version 1 (01 Feb 1995)
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Protein

Transcription factor ETV6

Gene

ETV6

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

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi339 – 420ETSPROSITE-ProRule annotationAdd BLAST82

<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 - Molecular functioni

GO - Biological processi

<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

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P41212

<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:
Transcription factor ETV6
Alternative name(s):
ETS translocation variant 6
ETS-related protein Tel1
Short name:
Tel
<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:ETV6
Synonyms:TEL, TEL1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 12

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3495 ETV6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600618 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P41212

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).1 Publication
Chromosomal aberrations involving ETV6 are found in acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1 (PubMed:7731705). Translocation t(4;12)(q12;p13) with CHIC2 (PubMed:10477709).2 Publications
Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1.1 Publication
A chromosomal aberration involving ETV6 is found in a form of pre-B acute lymphoid leukemia. Translocation t(9;12)(p24;p13) with JAK2.1 Publication
A chromosomal aberration involving ETV6 and JAK2 is found in an atypical chronic myelogenous leukemia. Translocation t(9;15;12)(p24;q15;p13).1 Publication
A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.1 Publication
A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.1 Publication
A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.1 Publication
A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.1 Publication
Myeloproliferative disorder chronic with eosinophilia (MPE)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.1 Publication
Disease descriptionA hematologic disorder characterized by malignant eosinophils proliferation.
See also OMIM:131440
Leukemia, acute myelogenous (AML)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
See also OMIM:601626
Thrombocytopenia 5 (THC5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.
See also OMIM:616216
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_073322214P → L in THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion. 1 PublicationCorresponds to variant dbSNP:rs724159947EnsemblClinVar.1
Natural variantiVAR_073323369R → Q in THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion. 1 PublicationCorresponds to variant dbSNP:rs724159946EnsemblClinVar.1
Natural variantiVAR_073324399R → C in THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion. 1 PublicationCorresponds to variant dbSNP:rs724159945EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi22S → A: No effect. 1
Mutagenesisi213S → A: No effect. 1 Publication1
Mutagenesisi238S → A: No effect. 1 Publication1
Mutagenesisi257S → A: No phosphorylation by MAPK14. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei11 – 12Breakpoint for translocation to form CHIC2-ETV6 in AML2
Sitei54 – 55Breakpoint for translocation to form ETV6-MDS2 in MDS2
Sitei55 – 56Breakpoint for translocation to form PAX5-ETV62
Sitei336 – 337Breakpoint for translocation to form ETV6-AML1 in ALL2

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
2120

MalaCards human disease database

More...
MalaCardsi
ETV6
MIMi131440 phenotype
601626 phenotype
616216 phenotype

Open Targets

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OpenTargetsi
ENSG00000139083

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
98823 Chronic myelomonocytic leukemia
2665 Congenital mesoblastic nephroma
146 Differentiated thyroid carcinoma
2030 Fibrosarcoma
71290 Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
99860 Precursor B-cell acute lymphoblastic leukemia
314950 Primary hypereosinophilic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27909

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2401606

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ETV6

Domain mapping of disease mutations (DMDM)

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DMDMi
730927

<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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002041211 – 452Transcription factor ETV6Add BLAST452

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei11N6-acetyllysine; alternateCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki11Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei18PhosphothreonineCombined sources1
Modified residuei22PhosphoserineCombined sources1 Publication1
Modified residuei213PhosphoserineCombined sources1
Modified residuei238PhosphoserineBy similarity1
Modified residuei257Phosphoserine; by MAPK141 Publication1
Cross-linki288Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei302N6-acetyllysine; alternateCombined sources1
Cross-linki302Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei323PhosphoserineBy similarity1
Cross-linki403Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki421Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P41212

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P41212

MaxQB - The MaxQuant DataBase

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MaxQBi
P41212

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

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PaxDbi
P41212

PeptideAtlas

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PeptideAtlasi
P41212

PRoteomics IDEntifications database

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PRIDEi
P41212

ProteomicsDB human proteome resource

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ProteomicsDBi
55416

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P41212

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

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PhosphoSitePlusi
P41212

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000139083 Expressed in 193 organ(s), highest expression level in mammary gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P41212 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P41212 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA000264

<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

Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL1 and HDAC9.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108421, 39 interactors

Database of interacting proteins

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DIPi
DIP-17028N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P41212

Protein interaction database and analysis system

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IntActi
P41212, 19 interactors

Molecular INTeraction database

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MINTi
P41212

STRING: functional protein association networks

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STRINGi
9606.ENSP00000379658

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P41212

<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

Secondary structure

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JI7X-ray1.45A/B/C47-123[»]
1LKYX-ray2.30A/B/C/D/E/F47-123[»]
2DAONMR-A338-442[»]
2QARX-ray2.40A/B/D/E47-124[»]
2QB0X-ray2.56A/C47-123[»]
2QB1X-ray2.61A/B47-121[»]
5L0PX-ray2.30A47-356[»]

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

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SMRi
P41212

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P41212

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini40 – 124PNTPROSITE-ProRule annotationAdd BLAST85

<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 ETS family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3804 Eukaryota
ENOG4111K4J LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159508

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000012982

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P41212

KEGG Orthology (KO)

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KOi
K03211

Identification of Orthologs from Complete Genome Data

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OMAi
PIENNHC

Database of Orthologous Groups

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OrthoDBi
827924at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P41212

TreeFam database of animal gene trees

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TreeFami
TF318679

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000418 Ets_dom
IPR003118 Pointed_dom
IPR013761 SAM/pointed_sf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00178 Ets, 1 hit
PF02198 SAM_PNT, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00454 ETSDOMAIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00413 ETS, 1 hit
SM00251 SAM_PNT, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46785 SSF46785, 1 hit
SSF47769 SSF47769, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00346 ETS_DOMAIN_2, 1 hit
PS50061 ETS_DOMAIN_3, 1 hit
PS51433 PNT, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P41212-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSETPAQCSI KQERISYTPP ESPVPSYASS TPLHVPVPRA LRMEEDSIRL
60 70 80 90 100
PAHLRLQPIY WSRDDVAQWL KWAENEFSLR PIDSNTFEMN GKALLLLTKE
110 120 130 140 150
DFRYRSPHSG DVLYELLQHI LKQRKPRILF SPFFHPGNSI HTQPEVILHQ
160 170 180 190 200
NHEEDNCVQR TPRPSVDNVH HNPPTIELLH RSRSPITTNH RPSPDPEQRP
210 220 230 240 250
LRSPLDNMIR RLSPAERAQG PRPHQENNHQ ESYPLSVSPM ENNHCPASSE
260 270 280 290 300
SHPKPSSPRQ ESTRVIQLMP SPIMHPLILN PRHSVDFKQS RLSEDGLHRE
310 320 330 340 350
GKPINLSHRE DLAYMNHIMV SVSPPEEHAM PIGRIADCRL LWDYVYQLLS
360 370 380 390 400
DSRYENFIRW EDKESKIFRI VDPNGLARLW GNHKNRTNMT YEKMSRALRH
410 420 430 440 450
YYKLNIIRKE PGQRLLFRFM KTPDEIMSGR TDRLEHLESQ ELDEQIYQED

EC
Length:452
Mass (Da):53,000
Last modified:February 1, 1995 - 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:iDEC45682ECADECBB
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KN52J3KN52_HUMAN
Transcription factor ETV6
ETV6
50Annotation 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>
H0YG25H0YG25_HUMAN
Transcription factor ETV6
ETV6
88Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence ABI30005 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073322214P → L in THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion. 1 PublicationCorresponds to variant dbSNP:rs724159947EnsemblClinVar.1
Natural variantiVAR_034600344Y → YG in one individual with AML; somatic mutation; unable to repress transcription. 1 Publication1
Natural variantiVAR_073323369R → Q in THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion. 1 PublicationCorresponds to variant dbSNP:rs724159946EnsemblClinVar.1
Natural variantiVAR_073324399R → C in THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion. 1 PublicationCorresponds to variant dbSNP:rs724159945EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U11732 mRNA Translation: AAA19786.1
AK289441 mRNA Translation: BAF82130.1
CH471094 Genomic DNA Translation: EAW96240.1
BC043399 mRNA Translation: AAH43399.1
U61375 Genomic DNA Translation: AAC50690.1
U63312 Genomic DNA Translation: AAB17134.1
U63313 Genomic DNA Translation: AAB17135.1
DQ841178 mRNA Translation: ABI30005.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS8643.1

NCBI Reference Sequences

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RefSeqi
NP_001978.1, NM_001987.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000396373; ENSP00000379658; ENSG00000139083

Database of genes from NCBI RefSeq genomes

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GeneIDi
2120

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2120

UCSC genome browser

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UCSCi
uc001qzz.4 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U11732 mRNA Translation: AAA19786.1
AK289441 mRNA Translation: BAF82130.1
CH471094 Genomic DNA Translation: EAW96240.1
BC043399 mRNA Translation: AAH43399.1
U61375 Genomic DNA Translation: AAC50690.1
U63312 Genomic DNA Translation: AAB17134.1
U63313 Genomic DNA Translation: AAB17135.1
DQ841178 mRNA Translation: ABI30005.1 Different initiation.
CCDSiCCDS8643.1
RefSeqiNP_001978.1, NM_001987.4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JI7X-ray1.45A/B/C47-123[»]
1LKYX-ray2.30A/B/C/D/E/F47-123[»]
2DAONMR-A338-442[»]
2QARX-ray2.40A/B/D/E47-124[»]
2QB0X-ray2.56A/C47-123[»]
2QB1X-ray2.61A/B47-121[»]
5L0PX-ray2.30A47-356[»]
SMRiP41212
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108421, 39 interactors
DIPiDIP-17028N
ELMiP41212
IntActiP41212, 19 interactors
MINTiP41212
STRINGi9606.ENSP00000379658

Chemistry databases

BindingDBiP41212
ChEMBLiCHEMBL2401606

PTM databases

iPTMnetiP41212
PhosphoSitePlusiP41212

Polymorphism and mutation databases

BioMutaiETV6
DMDMi730927

Proteomic databases

EPDiP41212
jPOSTiP41212
MaxQBiP41212
PaxDbiP41212
PeptideAtlasiP41212
PRIDEiP41212
ProteomicsDBi55416

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2120
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396373; ENSP00000379658; ENSG00000139083
GeneIDi2120
KEGGihsa:2120
UCSCiuc001qzz.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2120
DisGeNETi2120

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ETV6
HGNCiHGNC:3495 ETV6
HPAiHPA000264
MalaCardsiETV6
MIMi131440 phenotype
600618 gene
601626 phenotype
616216 phenotype
neXtProtiNX_P41212
OpenTargetsiENSG00000139083
Orphaneti98823 Chronic myelomonocytic leukemia
2665 Congenital mesoblastic nephroma
146 Differentiated thyroid carcinoma
2030 Fibrosarcoma
71290 Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
99860 Precursor B-cell acute lymphoblastic leukemia
314950 Primary hypereosinophilic syndrome
PharmGKBiPA27909

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3804 Eukaryota
ENOG4111K4J LUCA
GeneTreeiENSGT00940000159508
HOGENOMiHOG000012982
InParanoidiP41212
KOiK03211
OMAiPIENNHC
OrthoDBi827924at2759
PhylomeDBiP41212
TreeFamiTF318679

Enzyme and pathway databases

SIGNORiP41212

Miscellaneous databases

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

More...
ChiTaRSi
ETV6 human
EvolutionaryTraceiP41212

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ETV6

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

More...
GenomeRNAii
2120

Protein Ontology

More...
PROi
PR:P41212

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000139083 Expressed in 193 organ(s), highest expression level in mammary gland
ExpressionAtlasiP41212 baseline and differential
GenevisibleiP41212 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR000418 Ets_dom
IPR003118 Pointed_dom
IPR013761 SAM/pointed_sf
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00178 Ets, 1 hit
PF02198 SAM_PNT, 1 hit
PRINTSiPR00454 ETSDOMAIN
SMARTiView protein in SMART
SM00413 ETS, 1 hit
SM00251 SAM_PNT, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS00346 ETS_DOMAIN_2, 1 hit
PS50061 ETS_DOMAIN_3, 1 hit
PS51433 PNT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiETV6_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: P41212
Secondary accession number(s): A3QVP6
, A8K076, Q9UMF6, Q9UMF7, Q9UMG0
<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: February 1, 1995
Last sequence update: February 1, 1995
Last modified: May 8, 2019
This is version 200 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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