InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ETV1

Summary

InnateDB Protein

IDBP-295096.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ETV1

Protein Name

ets variant 1

Synonyms

ER81;

Species

Homo sapiens

Ensembl Protein

ENSP00000385551

InnateDB Gene

IDBG-8779 (ETV1)

Protein Structure

UniProt Annotation

Function

Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Ewing 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.

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 peripheral blood leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	18 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0030154	cell differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048935	peripheral nervous system neuron development