Gene content    
ETV1 ( by HUGO)
Ets Variant 1
Oncogene
Ets Variant 1
Ets Variant Gene 1
Ets-Related Protein 81
ER81
ETS Translocation Variant 1
NCBI: 7p21.3    Ensembl: 7p21.2
ETV1_HUMANSize: 477 amino acidsMass: 55131 Da

  • Tissue specificity: Very highly expressed in brain, highly expressed in testis, lung and heart, moderately in spleen, small intestine, pancreas and colon, weakly in liver, prostate and thymus, very weakly in skeletal muscle, kidney and ovary and not in placenta and periphera
  • Function:
    UniProtKB/Swiss-Prot Summary: ETV1_HUMAN, P50549 Function: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'
  • Similarity:
    Belongs to the ETS family
                          
    Contains 1 ETS DNA-binding domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR000418Ets_domEtsDomain
    IPR006715ETS_PEA3_NPEA3-type ETS-domain transcription factor, N-terminalDomain
    IPR011991WHTH_DNA-bd_domWinged helix repressor DNA-bindingDomain
    BlocksIPB006715PEA3-type ETS-domain transcription factorPEA3-type ETS-domain transcription factor, N-terminal

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process positive regulation of transcription from RNA polymerase II promoter IDA GOA 12750007
    transcription from RNA polymerase II promoter TAS GOA 7700648
    Molecular Function RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA GOA 12750007
    RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA GOA 12750007
    sequence-specific DNA binding transcription factor activity TAS GOA 7700648

    Disorder & Mutation    
    Source Disease
    SWISS-PROTEwing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1

    ETV1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene