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P41212

- ETV6_HUMAN

UniProt

P41212 - ETV6_HUMAN

Protein

Transcription factor ETV6

Gene

ETV6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 157 (01 Oct 2014)
      Sequence version 1 (01 Feb 1995)
      Previous versions | rss
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    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 binding Source: IntAct
    2. protein domain specific binding Source: UniProtKB
    3. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    4. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
    5. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: RefGenome
    6. 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

    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

    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

    ArrayExpressiP41212.
    BgeeiP41212.
    CleanExiHS_ETV6.
    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. 28 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 – 543
    Helixi58 – 603
    Helixi63 – 7614
    Turni84 – 874
    Helixi91 – 944
    Helixi99 – 1057
    Turni107 – 1093
    Helixi110 – 12213
    Helixi341 – 35010
    Helixi352 – 3543
    Turni355 – 3573
    Beta strandi358 – 3625
    Helixi363 – 3653
    Beta strandi367 – 3715
    Helixi373 – 38311
    Helixi391 – 40313
    Beta strandi406 – 4083
    Beta strandi411 – 4199
    Helixi424 – 4263
    Beta strandi430 – 4323
    Helixi434 – 4385

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MSETPAQCSI KQERISYTPP ESPVPSYASS TPLHVPVPRA LRMEEDSIRL    50
    PAHLRLQPIY WSRDDVAQWL KWAENEFSLR PIDSNTFEMN GKALLLLTKE 100
    DFRYRSPHSG DVLYELLQHI LKQRKPRILF SPFFHPGNSI HTQPEVILHQ 150
    NHEEDNCVQR TPRPSVDNVH HNPPTIELLH RSRSPITTNH RPSPDPEQRP 200
    LRSPLDNMIR RLSPAERAQG PRPHQENNHQ ESYPLSVSPM ENNHCPASSE 250
    SHPKPSSPRQ ESTRVIQLMP SPIMHPLILN PRHSVDFKQS RLSEDGLHRE 300
    GKPINLSHRE DLAYMNHIMV SVSPPEEHAM PIGRIADCRL LWDYVYQLLS 350
    DSRYENFIRW EDKESKIFRI VDPNGLARLW GNHKNRTNMT YEKMSRALRH 400
    YYKLNIIRKE PGQRLLFRFM KTPDEIMSGR TDRLEHLESQ ELDEQIYQED 450
    EC 452
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 28 interactions.
    DIPi DIP-17028N.
    IntActi P41212. 7 interactions.
    MINTi MINT-7944472.
    STRINGi 9606.ENSP00000266427.

    Chemistry

    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.
    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

    ArrayExpressi P41212.
    Bgeei P41212.
    CleanExi HS_ETV6.
    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

    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: October 1, 2014
    This is version 157 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