InnateDB Protein
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IDBP-295104.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ETV1
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Protein Name
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ets variant 1
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Synonyms
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ER81;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385381
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InnateDB Gene
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IDBG-8779 (ETV1)
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Protein Structure
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Function |
Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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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.
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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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
20
[view]
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Protein-Protein |
18
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0000978
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RNA polymerase II core promoter proximal region sequence-specific DNA binding
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GO:0000981
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sequence-specific DNA binding RNA polymerase II transcription factor activity
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GO:0001077
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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GO:0043565
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sequence-specific DNA binding
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Biological Process |
GO:0006355
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regulation of transcription, DNA-templated
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GO:0006357
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regulation of transcription from RNA polymerase II promoter
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GO:0006366
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transcription from RNA polymerase II promoter
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GO:0030154
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cell differentiation
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048935
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peripheral nervous system neuron development
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Cellular Component |
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PDB ID |
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InterPro |
IPR000418
Ets domain
IPR006715
PEA3-type ETS-domain transcription factor, N-terminal
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PFAM |
PF00178
PF04621
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PRINTS |
PR00454
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PIRSF |
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SMART |
SM00413
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TIGRFAMs |
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Modification |
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SwissProt |
P50549
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PhosphoSite |
PhosphoSite-P50549
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TrEMBL |
C9J9L1
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UniProt Splice Variant |
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Entrez Gene |
2115
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UniGene |
Hs.697443
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RefSeq |
NP_001156619
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HUGO |
HGNC:3490
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OMIM |
600541
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CCDS |
CCDS55087
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HPRD |
02765
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IMGT |
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EMBL |
AB209202
AC004857
AC004909
AF109621
AF109622
AF109623
AF109624
AF109625
AF109626
AF109627
AF109628
AF109629
AF109630
AF109631
AF109632
AK294755
AK299693
AK312863
AK316007
BC098403
BC106762
BC106763
CH236948
CR627389
U17163
X87175
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GenPept |
AAA79844
AAC62435
AAD29877
AAD29878
AAH98403
AAI06763
AAI06764
BAD92439
BAG35715
BAH11870
BAH13104
BAH14378
CAA60642
CAH10484
EAL24294
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