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FLASH GENE
Symbol ETS1 contributors: mct - updated : 30-04-2014
HGNC name v-ets erythroblastosis virus E26 oncogene homolog 1 (avian)
HGNC id 3488
Corresponding disease
DEL11QD chromosome 11q distal deletion syndrome
HLHS2 hypoplastic left heart syndrome 2
Location 11q24.3      Physical location : 128.328.655 - 128.457.453
Synonym name
  • ets protein
  • protein C-ets-1
  • transcriptional factor E26 transformation-specific sequence 1
  • Synonym symbol(s) ETS-1, EWSR2, FLJ10768, p54
    DNA
    TYPE functioning gene
    STRUCTURE 128.80 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC387819 11 LOC387819 FLJ14494 11q24.2 hypothetical protein FLJ14494 FLJ21103 11q24.2 hypothetical protein FLJ21103 SRPR 11q24.1 signal recognition particle receptor ('docking protein') H17 11q24.2 hypothetical protein H17 TIRAP 11q24.2 toll-interleukin 1 receptor (TIR) domain containing adaptor protein DCPS 11q24.2 mRNA decapping enzyme SIAT4C 11q23-q24 sialyltransferase 4C (beta-galactoside alpha-2,3-sialyltransferase) KIRREL3 11q24 kin of IRRE like 3 (Drosophila) FLJ40224 11q24.2 hypothetical protein FLJ40224 LOC387820 11 similar to DnaJ (Hsp40) homolog, subfamily B, member 6 isoform a; heat shock protein J2 LOC283166 11q24.3 hypothetical LOC283166 ETS1 11q23.3 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) LOC387821 11 hypothetical gene supported by BC039676 FLI1 11q24 Friend leukemia virus integration 1 KCNJ1 11q25 potassium inwardly-rectifying channel, subfamily J, member 1 KCNJ5 11q24 potassium inwardly-rectifying channel, subfamily J, member 5 MGC35558 11q24.3 hypothetical protein MGC35558 P53AIP1 11q24 p53-regulated apoptosis-inducing protein 1 RICS 11q24-q25 p53-regulated apoptosis-inducing protein 1 LOC387822 11 similar to hypothetical protein BARX2 11q25 BarH-like homeobox 2 LOC387823 11 LOC387823 LOC120224 11q24.3 hypothetical protein BC016153 NFRKB 11q24-q25 nuclear factor related to kappa B binding protein PRDM10 11q25 PR domain containing 10 LOC253665 11q24.3 similar to Transcription elongation factor B polypeptide 2 (RNA polymerase II transcription factor SIII subunit B) (SIII p18) (Elongin B) (EloB) (Elongin 18 kDa subunit) APLP2 11q24 amyloid beta (A4) precursor-like protein 2 ST14 11q24-q25 suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin) HSPC063 11q24.3 HSPC063 protein ADAMTS8 11q25 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 ADAMTS15 11q25 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15 LOC390277 11 similar to Bcl-2 homologous antagonist/killer (Apoptosis regulator BAK) (BCL2-like 7 protein) FLJ39058 11q25 hypothetical protein FLJ39058
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 5228 51 441 - 2009 19377509
    also called ETS1 variant 2/isoform 2
    4 - 4594 27 225 highly expressed in fetal lung, expressed in breast adenocarcinomas 2009 19377509
  • also called Ets-1 p27 variant 3/isoform 3
  • variant resulting from the alternative splicing of exons III to VI
  • lacks the threonine-38 AA, the Pointed domain and the transactivation domain, all of which are required for the transactivation of Ets-1 target genes
  • acts both at a transcriptional and a subcellular localization variant 2
  • 10 - 5143 - 485 - 2009 19377509
    also called variant 1/isoform 1
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     thymus   moderately
    Nervousnerve   moderately
    Reproductivefemale systembreastmammary gland moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal A domain involved in transactivation, a leucine-rich nuclear export signal (NES) located at the N terminus
  • an helix turn helix domain
  • a C terminus with an ETS DNA-binding domain
  • a PNT domain
  • conjugated PhosphoP , Other
    mono polymer complex
    HOMOLOGY
    interspecies homolog to rattus Ets1 (98.9 pc)
    homolog to murine Ets1 (97.3 pc)
    Homologene
    FAMILY
  • ETS family of transcription factors
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    text
  • is translocated to the cytoplasm in response to calcium-induced signals and facilitates the release of NFAT from noncoding RNA repressor of NFAT complex, which traps NFAT in the cytoplasm
  • basic FUNCTION
  • being a transcription regulator involved in maintenance of the normal pool of resting T and B lineage cells
  • regulates the expression of genes encoding enzymes involved in the degradation of the extracellular matrix, such as MMP1, MMP3, MMP7, and MMP9
  • playing an important role in heart development and should provide important insights into some of the most common forms of congenital heart disease
  • is essential for connective tissue growth factor (CTGF/CCN2) induction by TGFB1 in osteoblasts
  • is critical for the expression of IL2 in human T cells
  • ETS1 and PRDM1 play opposite roles during plasma cell differentiation, with ETS1 suppressing but PRDM1 promoting the process (PMID;
  • nuclear exit of ETS1 during erythroid maturation was mediated by a leucine-rich nuclear export signal (NES) located at the N terminus of ETS1 (PMID;
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text
  • negative regulation of cell proliferation
  • positive regulation of erythrocyte differentiation
  • PATHWAY
    metabolism
    signaling
    a component
  • forming a ternary complex with PAX proteins
  • sumoylated on Lys-15 and Lys-227, preferentially by SUMO2
  • ubiquitinated
  • INTERACTION
    DNA binding to sequence-specific
    RNA
    small molecule
    protein
  • PAX2, PAX3, PAX5 (amino subterminal domain) potentially important for cellular differentiation
  • coregulating osteopontin with PEBP2 alpha
  • cooperating with cFos and cJUN SP100 for transcriptional activation
  • activating CDKN2A
  • binding to DAXX
  • interacting with UBE2I
  • SP100 interacts with the ETS1 transcription factor, reduces ETS1-DNA binding and inhibits ETS1 transcriptional activity on the MMP1 and PLAU promoters
  • interacting with ERBB2 and MMP1 (enhancing the ERBB2-induced expression of MMP1)
  • TAL1 interacts with RUNX1 and ETS1, and these transcription factors are critically required for TAL1 binding to genes that modulate T-cell differentiation
  • interaction of a C-terminal fragment of DAXX with an N-terminal fragment of the sumoylated ETS1 transcription factor mediated by SIM-C
  • promotes the expression of IL2 by nuclear factor of activated T-cells (NFAT)-dependent mechanisms
  • very likely directly suppresses the expression of PRDM1 in Th1 cells by binding to the EBS2 of the PRDM1 promoter
  • cell & other
    REGULATION
    Other ID1 inhibits CDKN2A activation by ETS1 (and ETS2)
    ASSOCIATED DISORDERS
    corresponding disease(s) HLHS2 , DEL11QD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    translocated t(11;19) (q23;p13) in ALL, fused with EWSR1
    tumoral     --over  
    in both primary breast cancers and breast cancer cell lines, in progression and with metastasis
    Susceptibility systemic lupus erythematous
    Variant & Polymorphism SNP 3' UTR polymorphism associated with systemic erythematous (SLE), allele 1 with discoid lesions, allele 7 with vasculitis
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    target in breast cancer therapy, in cooperation with ERBB2 and MMP1
    ANIMAL & CELL MODELS
    homozygous Ets1 deletion mice had large membranous ventricular septal defects, abnormal-appearing left ventricular morphology, characterized by a bifid cardiac apex, and non-apex-forming left ventricle