• Gene id: 2115

Gene Summary

• Gene Symbol: ETV1   Gene   UCSC   Ensembl
• Aliases: ER81
• Gene name: ETS variant transcription factor 1
• Alternate names: ETS translocation variant 1, ETS variant 1, ets variant gene 1, ets-related protein 81,
• Gene location: 7p21.2 (13991424: 13891228)     Exons: 21     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS prot
• OMIM: 600541

Protein Summary

• Protein general information: P50549  
  • Name: ETS translocation variant 1 (Ets related protein 81)
  • Length: 477  
  • Mass: 55131
  • 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 pl
• Sequence:

  MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQ
  AESLAFHGLPLKIKKEPHSPCSEISSACSQEQPFKFSYGEKCLYNVSAYDQKPQVGMRPSNPPTPSSTPVSPLHH
  ASPNSTHTPKPDRAFPAHLPPSQSIPDSSYPMDHRFRRQLSEPCNSFPPLPTMPREGRPMYQRQMSEPNIPFPPQ
  GFKQEYHDPVYEHNTMVGSAASQSFPPPLMIKQEPRDFAYDSEVPSCHSIYMRQEGFLAHPSRTEGCMFEKGPRQ
  FYDDTCVVPEKFDGDIKQEPGMYREGPTYQRRGSLQLWQFLVALLDDPSNSHFIAWTGRGMEFKLIEPEEVARRW
  GIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCDPEALFSMAFPDNQRPLLKTDMERHINEEDTVPL
  SHFDESMAYMPEGGCCNPHPYNEGYVY

• Structural information:
  • Interpro: IPR000418  IPR006715  IPR032928  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061
  • PDB: 4AVP 4BNC 5ILS
  • PDBsum: 4AVP 4BNC 5ILS
  • DIP: 60463
  • STRING: ENSP00000405327
• Other Databases: GeneCards:  ETV1  Malacards:  ETV1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0048935	peripheral nervous system neuron development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0007638	mechanosensory behavior	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0048935	peripheral nervous system neuron development	TAS	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Prostate cancer	KEGG:H00024
Ewing sarcoma	KEGG:H00035
Prostate cancer	KEGG:H00024
Ewing sarcoma	KEGG:H00035
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)