InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ETV1

Summary

InnateDB Gene

IDBG-8779.6

Last Modified

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

Gene Symbol

ETV1

Gene Name

ets variant 1

Synonyms

ER81

Species

Homo sapiens

Ensembl Gene

ENSG00000006468

Encoded Proteins

IDBP-8781

ets variant 1

IDBP-230844

ets variant 1

IDBP-295104

ets variant 1

IDBP-295096

ets variant 1

IDBP-295094

ets variant 1

IDBP-295097

ets variant 1

IDBP-295098

ets variant 1

IDBP-365539

ets variant 1

IDBP-365554

ets variant 1

IDBP-365574

ets variant 1

IDBP-365581

ets variant 1

IDBP-365583

ets variant 1

IDBP-365584

ets variant 1

IDBP-365585

ets variant 1

IDBP-365586

ets variant 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
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 proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5\'-CGGA[AT]-3\'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 7:13891228-13991425

Strand

Reverse strand

Band

p21.2

Transcripts

ENST00000242066	ENSP00000242066
ENST00000399357	ENSP00000382293
ENST00000405192	ENSP00000385381
ENST00000405218	ENSP00000385551
ENST00000403685	ENSP00000385686
ENST00000405358	ENSP00000384085
ENST00000403527	ENSP00000384138
ENST00000430479	ENSP00000405327
ENST00000420159	ENSP00000411626
ENST00000443137	ENSP00000413836
ENST00000438956	ENSP00000393078
ENST00000443608	ENSP00000394710
ENST00000421381	ENSP00000391043
ENST00000431887	ENSP00000410819
ENST00000433547	ENSP00000406931
ENST00000476720
ENST00000493831
ENST00000472931
ENST00000497115
ENST00000476355
ENST00000460438
ENST00000483075
ENST00000485475

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:0007411	axon guidance
GO:0007517	muscle organ development
GO:0007638	mechanosensory behavior
GO:0030154	cell differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048935	peripheral nervous system neuron development

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000004151

View Gene Order

ENSBTAG00000015981

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

p38_mk2pathway

p38 signaling mediated by MAPKAP kinases

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.22634 Hs.627150 Hs.697443

RefSeq

NM_001163147 NM_001163148 NM_001163149 NM_001163150 NM_001163151 NM_001163152 NM_004956 XM_005249635 XM_005249636

HUGO

OMIM

CCDS

CCDS55083 CCDS55084 CCDS55085 CCDS55086 CCDS55087 CCDS55088

HPRD

02765

IMGT

EMBL

GenPept

RNA Seq Atlas