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Protein

Transcription factor ETV6

Gene

ETV6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
DNA bindingi339 – 420ETSPROSITE-ProRule annotationAdd BLAST82

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: GO_Central
  • hematopoietic stem cell proliferation Source: UniProtKB
  • mesenchymal cell apoptotic process Source: Ensembl
  • negative regulation of transcription by RNA polymerase II Source: NTNU_SB
  • neurogenesis Source: Ensembl
  • vitellogenesis Source: Ensembl

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP41212

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor ETV6
Alternative name(s):
ETS translocation variant 6
ETS-related protein Tel1
Short name:
Tel
Gene namesi
Name:ETV6
Synonyms:TEL, TEL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139083.10
HGNCiHGNC:3495 ETV6
MIMi600618 gene
neXtProtiNX_P41212

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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
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
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
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

DisGeNETi2120
MalaCardsiETV6
MIMi131440 phenotype
601626 phenotype
616216 phenotype
OpenTargetsiENSG00000139083
Orphaneti98823 Chronic myelomonocytic leukemia
2665 Congenital mesoblastic nephroma
2030 Fibrosarcoma
99860 Precursor B-cell acute lymphoblastic leukemia
314950 Primary hypereosinophilic syndrome
PharmGKBiPA27909

Chemistry databases

ChEMBLiCHEMBL2401606

Polymorphism and mutation databases

BioMutaiETV6
DMDMi730927

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002041211 – 452Transcription factor ETV6Add BLAST452

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei11N6-acetyllysine; alternateCombined sources1
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

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

EPDiP41212
MaxQBiP41212
PaxDbiP41212
PeptideAtlasiP41212
PRIDEiP41212
ProteomicsDBi55416

PTM databases

iPTMnetiP41212
PhosphoSitePlusiP41212

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000139083
CleanExiHS_ETV6
ExpressionAtlasiP41212 baseline and differential
GenevisibleiP41212 HS

Organism-specific databases

HPAiHPA000264

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108421, 34 interactors
DIPiDIP-17028N
ELMiP41212
IntActiP41212, 16 interactors
MINTiP41212
STRINGi9606.ENSP00000379658

Chemistry databases

BindingDBiP41212

Structurei

Secondary structure

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi12 – 18Combined sources7
Turni20 – 22Combined sources3
Helixi23 – 27Combined sources5
Helixi30 – 38Combined sources9
Helixi52 – 54Combined sources3
Helixi58 – 60Combined sources3
Helixi63 – 76Combined sources14
Turni84 – 87Combined sources4
Helixi91 – 94Combined sources4
Helixi99 – 105Combined sources7
Turni107 – 109Combined sources3
Helixi110 – 122Combined sources13
Helixi341 – 350Combined sources10
Helixi352 – 354Combined sources3
Turni355 – 357Combined sources3
Beta strandi358 – 362Combined sources5
Helixi363 – 365Combined sources3
Beta strandi367 – 371Combined sources5
Helixi373 – 383Combined sources11
Helixi391 – 403Combined sources13
Beta strandi406 – 408Combined sources3
Beta strandi411 – 419Combined sources9
Helixi424 – 426Combined sources3
Beta strandi430 – 432Combined sources3
Helixi434 – 438Combined sources5

3D structure databases

ProteinModelPortaliP41212
SMRiP41212
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP41212

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 124PNTPROSITE-ProRule annotationAdd BLAST85

Sequence similaritiesi

Belongs to the ETS family.Curated

Phylogenomic databases

eggNOGiKOG3804 Eukaryota
ENOG4111K4J LUCA
GeneTreeiENSGT00760000118996
HOGENOMiHOG000012982
HOVERGENiHBG005617
InParanoidiP41212
KOiK03211
OMAiHQEPYPL
OrthoDBiEOG091G05Q3
PhylomeDBiP41212
TreeFamiTF318679

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

Sequencei

Sequence statusi: Complete.

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
Checksum:iDEC45682ECADECBB
GO

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:
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
UniGeneiHs.504765

Genome annotation databases

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

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiETV6_HUMAN
AccessioniPrimary (citable) accession number: P41212
Secondary accession number(s): A3QVP6
, A8K076, Q9UMF6, Q9UMF7, Q9UMG0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: June 20, 2018
This is version 194 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

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