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FLASH GENE
Symbol ETV1 contributors: mct/npt/pgu - updated : 13-06-2016
HGNC name ets variant 1
HGNC id 3490
Location 7p21.2      Physical location : 13.930.857 - 14.031.050
Synonym name
  • ets variant gene 1
  • protein ER81
  • Synonym symbol(s) ER81, MGC104699, MGC120533, MGC120534, DKFZp781L0674
    DNA
    TYPE functioning gene
    STRUCTURE 100.20 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure promoter is induced by androgens and recruits the AR in the context of chromatin
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392778 7 hypothetical gene supported by BX537645 TP53AP1 7q21.1 TP53 activated protein 1 CROT 7q21.1 carnitine O-octanoyltransferase GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389465 7 hypothetical gene supported by BT009862; NM_003142 ABCB4 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 4 LOC392725 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 ABCB1 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 SCIN 7p21.3 scinderin LOC392726 7 LOC392726 ARL4 7p21-p15.3 ADP-ribosylation factor-like 4 RPIB9 7q21.13 Rap2-binding protein 9 MCFP 7q21.13 mitochondrial carrier family protein ASK 7q21.3 mitochondrial carrier family protein ADAM22 7q21.1 a disintegrin and metalloproteinase domain 22 PPP1R3A 7q11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle) SRI 7q21.1 sorcin FLJ23153 7q21.13 likely ortholog of mouse tumor necrosis-alpha-induced adipose-related protein LOC392869 7 similar to 60S ribosomal protein L26 ETV1 7p22 ets variant gene 1 LOC392948 7 similar to CSRP2 binding protein isoform a; CRP2 binding protein; cysteine rich protein 2 binding protein; CRP2 binding partner LOC392949 7 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) FOXP2 7q31 forkhead box P2 LOC392950 7 similar to elongation factor 1 alpha DGKB 7p22.2 diacylglycerol kinase, beta 90kDa FLJ32110 7q21.13-q21.2 hypothetical protein FLJ32110 LOC221808 7p21.3 similar to 60S ribosomal protein L26 MGC26647 7q21.13 hypothetical protein MGC26647 ETV1 7p22 ets variant gene 1 DGKB 7p22.2 diacylglycerol kinase, beta 90kDa HIC 7q31.1 diacylglycerol kinase, beta 90kDa LOC392636 7 similar to RIKEN cDNA A530016O06 gene TFEC 7q31.2 transcription factor EC LOC392745 7 similar to Six transmembrane epithelial antigen of prostate MEOX2 7p21 mesenchyme homeo box 2 (growth arrest-specific homeo box)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 6824 55.1 477 - 2007 17632455
  • full-length
  • presence of exon 5 encoding the C terminal part of the transcription acidic domain
  • 13 splicing 6366 - 459 - 1999 10597226
  • truncated
  • absence of exon 5 encoding the c terminal part of the transcription acidic domain
  • 12 - 6558 - 454 - 1999 10597226
    12 - 6237 - 459 - 1999 10597226
    10 - 6303 - 437 - 1999 10597226
    9 - 6249 - 419 - 1999 10597226
    9 - 6114 - 374 - 1999 10597226
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Nervousbrain   highly
    Reproductivemale systemprostate  lowly
    Respiratorylung   highly
    Skin/Tegumentskin   highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentralwhite matter  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text developing spinal cord
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • ETS DNA binding domain, PEA3 subgroup
  • a C terminal transcriptional acidic domain
  • secondary structure alpha helix crucial for transactivation
    HOMOLOGY
    interspecies homolog to murine Etv1
    homolog to C.elegans C24a1.2
    Homologene
    FAMILY
  • PEA3 subfamily of ETS transcription factors
  • divergent member of the winged helix-turn-helix superfamily
  • CATEGORY regulatory , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • transcription activator
  • establishement of functional sensory-motor circuitly in the developng spinal cord
  • necessary only for TH expression and not the other cassette genes (
  • up-regulates the maturation genes in a developmentally regulated manner
  • orchestrates the activity-dependent gene regulation in the terminal maturation program and specifies the identity of cerebellar granule cells
  • enhances POMC transcription on its own and in synergy with TBX19
  • participates in a combinatorial code for pituitary cell-specific gene expression
  • activator of POMC expression with a TBX19-like pituitary expression profile
  • ETV1 transcription factor plays a key role in converging the BDNF-mediated and activity-dependent regulation of expression of the maturation genes
  • synergistic control of ETV1 by extracellular signaling and activity-dependent intrinsic regulation is crucial in directing the maturation program of the cerebellar circuit
  • promotes SNAI1 expression to induce EMT-like metastatic progression in gastric cancer
  • orchestrates the activity-dependent regulation of both maturation and immaturation genes in developing granule cells and plays a key role in specifying the identity of mature granule cells in the cerebellum
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to sequences containing the consensus pentanucleotide 5'-CGGA(AT)-3'
    RNA
    small molecule
    protein
  • dysregulation of ETS family members through fusions with TMRPSS2 may be an initiating event in prostate cancer development
  • interaction with AR (indirect mechanism of AR regulation of gene expression, via the transactivation of the transcription factor ETV1) (
  • genetic interplay between the transcription factors, PAX6 and ETV1, is responsible, in part, for the regional specification of a distinct sublineage of layer 5 projection neurons
  • RFWD2 is a tumour suppressor that negatively regulates ETV1, ETV4 and ETV5
  • coordinate expression of ETV1 with POMC cell differentiation and its interaction with the highly cell-restricted TBX19 factor indicate that ETV1 participates in a combinatorial code for pituitary cell-specific gene expression
  • GRIN2C and TIAM1 maturation genes are synergistically controlled by the activity-dependent induction of ETV1 and its phosphorylation by the BDNF signaling cascade
  • BDNF-activated signaling cascades, the ERK1/2 activation results in specific phosphorylation of ETV1 in the granule cells
  • MMP7 is a bona fide ETV1 target gene, implicating that MMP7 upregulation is partially responsible for the oncogenic effects of ETV1 in the prostate
  • ETV1 and EWSR1 transactivate FGF10 directly and cooperatively in response to apical ectodermal ridge (AER)-FGFs
  • KDM4A cooperated with ETV1 to increase expression of yes associated protein 1 (YAP1), a Hippo pathway component that itself was associated with prostate tumor aggressiveness
  • cell & other
    REGULATION
    induced by by the activity-dependent excitation of granule cells, specifically phosphorylated by ERK1/2, and plays a key role in up-regulation of the maturation genes
    Other transcriptional program regulated by activated KIT, which prolongs ETV1 protein stability and cooperates with ETV1 to promote tumorigenesis
    degraded after being ubiquitinated by RFWD2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with EWS in translocation t(7;22)(p22;q12) in a form of Ewing's sarcoma
    tumoral fusion      
    with TMPRSS2, in prostate carcinoma
    tumoral     --over  
    in prostate carcinoma
    tumoral     --over  
    in prostate cancer independent of the TMPRSS2/ETV1 translocation
    tumoral     --over  
    in gastrointestinal stromal tumour
    tumoral     --other  
    deregulated ETV1 in melanoma genesis, suggesting a pivotal lineage dependency mediated by oncogenic ETS transcription factors in this malignancy
    tumoral     --other  
    specifically expressed in the majority of Gastrointestinal stromal tumors (GISTs), even in some KIT-negative cases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivestomach
    ETV1 inhibitors may yield novel therapeutic agents for imatinib-resistant gastrointestinal stromal tumour
    cancerreproductiveprostate
    KDM4A/ETV1/YAP1 axis promoting prostate cancer initiation, may be a suitable target for therapeutic inhibition
    ANIMAL & CELL MODELS
    mutant mice