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P41212

- ETV6_HUMAN

UniProt

P41212 - ETV6_HUMAN

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Protein

Transcription factor ETV6

Gene

ETV6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei11 – 122Breakpoint for translocation to form CHIC2-ETV6 in AML
Sitei54 – 552Breakpoint for translocation to form ETV6-MDS2 in MDS
Sitei55 – 562Breakpoint for translocation to form PAX5-ETV6
Sitei336 – 3372Breakpoint for translocation to form ETV6-AML1 in ALL

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi339 – 42082ETSPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. protein domain specific binding Source: UniProtKB
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  4. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
  5. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
  6. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: RefGenome
  7. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. cell differentiation Source: RefGenome
  2. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  3. regulation of transcription from RNA polymerase II promoter Source: RefGenome
  4. transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:3495. ETV6.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleolus Source: HPA
Complete GO annotation...

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).
Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2.
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.
A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2.
A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.
A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.
A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.
Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder characterized by malignant eosinophils proliferation.
Note: 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.
Leukemia, acute myelogenous (AML) [MIM:601626]: A 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.1 Publication
Note: The gene represented in this entry is involved in disease pathogenesis.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti344 – 3441Y → YG in one individual with AML; somatic mutation; unable to repress transcription. 1 Publication
VAR_034600
A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi22 – 221S → A: No effect.
Mutagenesisi213 – 2131S → A: No effect. 1 Publication
Mutagenesisi238 – 2381S → A: No effect. 1 Publication
Mutagenesisi257 – 2571S → A: No phosphorylation by MAPK14. 1 Publication

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

MIMi131440. phenotype.
601626. phenotype.
Orphaneti98823. Chronic myelomonocytic leukemia.
2665. Congenital mesoblastic nephroma.
2030. Fibrosarcoma.
99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBiPA27909.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 452451Transcription factor ETV6PRO_0000204121Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Modified residuei11 – 111N6-acetyllysine1 Publication
Modified residuei18 – 181Phosphothreonine1 Publication
Modified residuei22 – 221Phosphoserine5 Publications
Modified residuei213 – 2131Phosphoserine1 Publication
Modified residuei257 – 2571Phosphoserine; by MAPK141 Publication
Modified residuei302 – 3021N6-acetyllysine1 Publication

Post-translational modificationi

Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.5 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP41212.
PaxDbiP41212.
PeptideAtlasiP41212.
PRIDEiP41212.

PTM databases

PhosphoSiteiP41212.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiP41212.
CleanExiHS_ETV6.
ExpressionAtlasiP41212. baseline and differential.
GenevestigatoriP41212.

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

WithEntry#Exp.IntActNotes
HDAC9Q9UKV0-33EBI-1372759,EBI-765476

Protein-protein interaction databases

BioGridi108421. 32 interactions.
DIPiDIP-17028N.
IntActiP41212. 7 interactions.
MINTiMINT-7944472.
STRINGi9606.ENSP00000266427.

Structurei

Secondary structure

1
452
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi52 – 543Combined sources
Helixi58 – 603Combined sources
Helixi63 – 7614Combined sources
Turni84 – 874Combined sources
Helixi91 – 944Combined sources
Helixi99 – 1057Combined sources
Turni107 – 1093Combined sources
Helixi110 – 12213Combined sources
Helixi341 – 35010Combined sources
Helixi352 – 3543Combined sources
Turni355 – 3573Combined sources
Beta strandi358 – 3625Combined sources
Helixi363 – 3653Combined sources
Beta strandi367 – 3715Combined sources
Helixi373 – 38311Combined sources
Helixi391 – 40313Combined sources
Beta strandi406 – 4083Combined sources
Beta strandi411 – 4199Combined sources
Helixi424 – 4263Combined sources
Beta strandi430 – 4323Combined sources
Helixi434 – 4385Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1JI7X-ray1.45A/B/C47-123[»]
1LKYX-ray2.30A/B/C/D/E/F47-123[»]
2DAONMR-A338-442[»]
2QARX-ray2.40A/D47-142[»]
B/E47-148[»]
2QB0X-ray2.56A/C47-123[»]
2QB1X-ray2.61A/B47-121[»]
ProteinModelPortaliP41212.
SMRiP41212. Positions 47-124, 338-442.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP41212.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini40 – 12485PNTPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the ETS family.Curated
Contains 1 ETS DNA-binding domain.PROSITE-ProRule annotation
Contains 1 PNT (pointed) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG270606.
GeneTreeiENSGT00760000118996.
HOGENOMiHOG000012982.
HOVERGENiHBG005617.
InParanoidiP41212.
KOiK03211.
OMAiHQEPYPL.
OrthoDBiEOG7R2BJB.
PhylomeDBiP41212.
TreeFamiTF318679.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
1.10.150.50. 1 hit.
InterProiIPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view]
PRINTSiPR00454. ETSDOMAIN.
SMARTiSM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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 ABI30005.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti344 – 3441Y → YG in one individual with AML; somatic mutation; unable to repress transcription. 1 Publication
VAR_034600

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.3. human.

Polymorphism databases

DMDMi730927.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

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.
CCDSi CCDS8643.1.
RefSeqi NP_001978.1. NM_001987.4.
UniGenei Hs.504765.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1JI7 X-ray 1.45 A/B/C 47-123 [» ]
1LKY X-ray 2.30 A/B/C/D/E/F 47-123 [» ]
2DAO NMR - A 338-442 [» ]
2QAR X-ray 2.40 A/D 47-142 [» ]
B/E 47-148 [» ]
2QB0 X-ray 2.56 A/C 47-123 [» ]
2QB1 X-ray 2.61 A/B 47-121 [» ]
ProteinModelPortali P41212.
SMRi P41212. Positions 47-124, 338-442.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108421. 32 interactions.
DIPi DIP-17028N.
IntActi P41212. 7 interactions.
MINTi MINT-7944472.
STRINGi 9606.ENSP00000266427.

Chemistry

BindingDBi P41212.
ChEMBLi CHEMBL2401606.

PTM databases

PhosphoSitei P41212.

Polymorphism databases

DMDMi 730927.

Proteomic databases

MaxQBi P41212.
PaxDbi P41212.
PeptideAtlasi P41212.
PRIDEi P41212.

Protocols and materials databases

DNASUi 2120.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000396373 ; ENSP00000379658 ; ENSG00000139083 .
GeneIDi 2120.
KEGGi hsa:2120.
UCSCi uc001qzz.3. human.

Organism-specific databases

CTDi 2120.
GeneCardsi GC12P011802.
HGNCi HGNC:3495. ETV6.
HPAi HPA000264.
MIMi 131440. phenotype.
600618. gene.
601626. phenotype.
neXtProti NX_P41212.
Orphaneti 98823. Chronic myelomonocytic leukemia.
2665. Congenital mesoblastic nephroma.
2030. Fibrosarcoma.
99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBi PA27909.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG270606.
GeneTreei ENSGT00760000118996.
HOGENOMi HOG000012982.
HOVERGENi HBG005617.
InParanoidi P41212.
KOi K03211.
OMAi HQEPYPL.
OrthoDBi EOG7R2BJB.
PhylomeDBi P41212.
TreeFami TF318679.

Miscellaneous databases

ChiTaRSi ETV6. human.
EvolutionaryTracei P41212.
GeneWikii ETV6.
GenomeRNAii 2120.
NextBioi 8571.
PROi P41212.
SOURCEi Search...

Gene expression databases

Bgeei P41212.
CleanExi HS_ETV6.
ExpressionAtlasi P41212. baseline and differential.
Genevestigatori P41212.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
1.10.150.50. 1 hit.
InterProi IPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view ]
PRINTSi PR00454. ETSDOMAIN.
SMARTi SM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation."
    Golub T.R., Barker G.F., Lovett M., Gilliland D.G.
    Cell 77:307-316(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Urinary bladder.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  5. "Genomic organization of TEL: the human ETS-variant gene 6."
    Baens M., Peeters P., Guo C., Aerssens J., Marynen P.
    Genome Res. 6:404-413(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 56-109; 111-336 AND 338-452.
  6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 56-452, CHROMOSOMAL TRANSLOCATION WITH PAX5.
  7. Cited for: CHROMOSOMAL TRANSLOCATION WITH AML1.
  8. "The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion."
    Romana S.P., Mauchauffe M., le Coniat M., Chumakov I., le Paslier D., Berger R., Bernard O.A.
    Blood 85:3662-3670(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH AML1.
  9. "Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13)."
    Yagasaki F., Jinnai I., Yoshida S., Yokoyama Y., Matsuda A., Kusumoto S., Kobayashi H., Terasaki H., Ohyashiki K., Asou N., Murohashi I., Bessho M., Hirashima K.
    Genes Chromosomes Cancer 26:192-202(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH ACSL6.
  10. "Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13)."
    Cools J., Bilhou-Nabera C., Wlodarska I., Cabrol C., Talmant P., Bernard P., Hagemeijer A., Marynen P.
    Blood 94:1820-1824(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH CHIC2.
  11. Cited for: PHOSPHORYLATION AT SER-22 AND SER-257, MUTAGENESIS OF SER-213; SER-238 AND SER-257.
  12. "A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome."
    Odero M.D., Vizmanos J.L., Roman J.P., Lahortiga I., Panizo C., Calasanz M.J., Zeleznik-Le N.J., Rowley J.D., Novo F.J.
    Genes Chromosomes Cancer 35:11-19(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH MDS2.
  13. "Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta."
    Apperley J.F., Gardembas M., Melo J.V., Russell-Jones R., Bain B.J., Baxter E.J., Chase A., Chessells J.M., Colombat M., Dearden C.E., Dimitrijevic S., Mahon F.-X., Marin D., Nikolova Z., Olavarria E., Silberman S., Schultheis B., Cross N.C.P., Goldman J.M.
    N. Engl. J. Med. 347:481-487(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH PDGFRB.
  14. "The human L(3)MBT Polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6)."
    Boccuni P., MacGrogan D., Scandura J.M., Nimer S.D.
    J. Biol. Chem. 278:15412-15420(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH L3MBTL1.
  15. "The histone deacetylase 9 gene encodes multiple protein isoforms."
    Petrie K., Guidez F., Howell L., Healy L., Waxman S., Greaves M., Zelent A.
    J. Biol. Chem. 278:16059-16072(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HDAC9.
  16. "Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia."
    Barjesteh van Waalwijk van Doorn-Khosrovani S., Spensberger D., de Knegt Y., Tang M., Loewenberg B., Delwel R.
    Oncogene 24:4129-4137(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN AML, VARIANT GLY-344 INS, CHARACTERIZATION OF VARIANT GLY-344 INS.
  17. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  18. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-18 AND SER-22, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  19. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2; LYS-11 AND LYS-302, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  20. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  21. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22 AND SER-213, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  22. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. "Solution structure of ets domain transcriptional factor ETV6 protein."
    RIKEN structural genomics initiative (RSGI)
    Submitted (DEC-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 338-442.

Entry informationi

Entry nameiETV6_HUMAN
AccessioniPrimary (citable) accession number: P41212
Secondary accession number(s): A3QVP6
, A8K076, Q9UMF6, Q9UMF7, Q9UMG0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: November 26, 2014
This is version 159 of the entry and version 1 of the sequence. [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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3