ETV1 - ETS variant transcription factor 1 Gene

Homo sapiens

Also known as ER81

Gene ID: 2115 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-32344	Inecalcitol		97.42%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116785	BRD32048	Inhibitor	99.77%	Unkown
HY-RS04564	ETV1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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