ETV1 - ETS variant transcription factor 1 Gene

Also Known as ER81

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2115

About ETV1

Cytogenetic location: 7p21.2 Genomic coordinates (GRCh38): 7:13,891,229-13,991,425 (from NCBI)

This gene has 21 transcripts (splice variants), 208 orthologues, 28 paralogues and is associated with 93 phenotypes. Biased expression in brain (RPKM 22.4), salivary gland (RPKM 11.8) and 12 other tissues.

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 Ewing 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, Jul 2016]

ETV1 Products (9)

mRNA	Protein	Name
NM_001163147.2	NP_001156619.1	ETS translocation variant 1 isoform b
NM_001163148.2	NP_001156620.1	ETS translocation variant 1 isoform c
NM_001163149.2	NP_001156621.1	ETS translocation variant 1 isoform c
NM_001163150.2	NP_001156622.1	ETS translocation variant 1 isoform d
NM_001163151.2	NP_001156623.1	ETS translocation variant 1 isoform e
NM_001163152.2	NP_001156624.1	ETS translocation variant 1 isoform f
NM_001370555.1	NP_001357484.1	ETS translocation variant 1 isoform a
NM_001370556.1	NP_001357485.1	ETS translocation variant 1 isoform g
NM_004956.5	NP_004947.2	ETS translocation variant 1 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12750007	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	12750007	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21572435	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12750007	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ETV1 Protein Structure

ETS_PEA3_N

Ets

0
100
200
300
400
454 a.a.

Protein Preferred Names	Protein Names
ETS translocation variant 1	ets variant gene 1

ETV1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ETV1	P50549	COP1	Homo sapiens	Q8NHY2	Anti Tag CoIP	33961781
Intra	ETV1	P50549	PRKDC	Homo sapiens	P78527	Anti Tag CoIP	21575865

Cross: Cross-species interaction Intra: Intraspecies interaction

ETV1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85151	ER81 Antibody (YA4843)	WB, ELISA	Human

Related Diseases

Diseases	Alias
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Gastrointestinal Stromal Tumor	GIST Gastrointestinal Stromal Tumors Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Tumor, Familial Gant Gastrointestinal Stromal Tumour Stromal Tumor Of Gastrointestinal Tract Stromal Tumour Of Gastrointestinal Tract Gastrointestinal Stromal Neoplasm Paraganglioma And Gastric Stromal Sarcoma Plexosarcoma
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Microphthalmia, Isolated 1	Isolated Microphthalmia 1 MCOP1 Mcop Anophthalmia, Clinical, Isolated Microphthalmos, Autosomal Recessive
Myxoid Chondrosarcoma
Askin'S Tumor	Askin Tumor Askin Tumour Askin'S Tumour
Epilepsy, Familial Temporal Lobe, 5	Familial Temporal Lobe Epilepsy 5 ETL5 Epilepsy, Temporal Lobe, Familial, Type 5
Desmoplastic Small Round Cell Tumor	Dsrct Desmoplastic Small Round-Cell Tumor Desmoplastic Small Round-Cell Neoplasm
Chondrosarcoma, Extraskeletal Myxoid	Extraskeletal Myxoid Chondrosarcoma Emc Myxoid Extraosseous Chondrosarcoma
Extraosseous Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Myxoid Liposarcoma	Myxoid/Round Cell Liposarcoma Liposarcoma, Myxoid Mrcls Myxoliposarcoma MXLIPO Liposarcoma Myxoid Liposarcoma
Charcot-Marie-Tooth Disease, Axonal, Type 2dd	CMT2DD Charcot-Marie-Tooth Neuropathy, Type 2dd Charcot-Marie-Tooth Disease Type 2dd Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Atp1a1-Related Cmt2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd Charcot-Marie-Tooth Disease 2dd
Suppression Of Tumorigenicity 12	Prostate Adenocarcinoma Adenocarcinoma Of Prostate ST12 Prostate Adenocarcinoma 1 Pac1
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-32344	Inecalcitol		98.44%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116785	BRD32048	Inhibitor	99.94%	Unkown
HY-174866	BT-O2C	Inhibitor	99.31%	Unkown
HY-RS04564	ETV1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17188	Etv1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23639	Etv1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ETV1	VGNC	VGNC:40496
Felis catus	ETV1	VGNC	VGNC:61982
Bos taurus	ETV1	VGNC	VGNC:28628
Macaca mulatta	ETV1	VGNC	VGNC:108401
Mus musculus	ETV1	MGD	MGI:99254
Rattus norvegicus	ETV1	RGD	RGD:1312007
Others	ETV1	NCBI