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ETV1 ETS variant 1 [ Homo sapiens (human) ]

Gene ID: 2115, updated on 3-Jun-2018
Official Symbol
ETV1provided by HGNC
Official Full Name
ETS variant 1provided by HGNC
Primary source
HGNC:HGNC:3490
See related
Ensembl:ENSG00000006468 MIM:600541; Vega:OTTHUMG00000152403
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ER81
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]
Expression
Biased expression in brain (RPKM 22.4), salivary gland (RPKM 11.8) and 12 other tissues See more
Orthologs
See ETV1 in Genome Data Viewer
Location:
7p21.2
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (13891229..13991425, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (13930854..14031050, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375161 Neighboring gene ribosomal protein L26 pseudogene 21 Neighboring gene uncharacterized LOC105375162 Neighboring gene solute carrier family 34 member 2 pseudogene Neighboring gene ribosomal protein L6 pseudogene 21

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104699, MGC120533, MGC120534, DKFZp781L0674

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mechanosensory behavior IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system neuron development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
ETS translocation variant 1
Names
ets variant gene 1
ets-related protein 81

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029795.1 RefSeqGene

    Range
    5001..105197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163147.1NP_001156619.1  ETS translocation variant 1 isoform b

    See identical proteins and their annotated locations for NP_001156619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. This isoform contains the N-terminal TAD.
    Source sequence(s)
    AB209202, AC004857, BC098403, BU737178, DA114165
    Consensus CDS
    CCDS55087.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000385381.2, OTTHUMP00000201619, ENST00000405192.6, OTTHUMT00000326115
    Conserved Domains (2) summary
    smart00413
    Location:311395
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:1310
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  2. NM_001163148.1NP_001156620.1  ETS translocation variant 1 isoform c

    See identical proteins and their annotated locations for NP_001156620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform. This isoform contains a truncated TAD.
    Source sequence(s)
    AC004857, AK294755, BU737178, DB093597, DB099964
    Consensus CDS
    CCDS55086.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000242066.5, ENST00000242066.9
    Conserved Domains (2) summary
    smart00413
    Location:316400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  3. NM_001163149.1NP_001156621.1  ETS translocation variant 1 isoform c

    See identical proteins and their annotated locations for NP_001156621.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform. This isoform contains a truncated TAD.
    Source sequence(s)
    AC004857, BC098403, BU737178, X87175
    Consensus CDS
    CCDS55086.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000385686.1, OTTHUMP00000201617, ENST00000403685.5, OTTHUMT00000326113
    Conserved Domains (2) summary
    smart00413
    Location:316400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  4. NM_001163150.1NP_001156622.1  ETS translocation variant 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter, 5' UTR, and 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform a. This isoform lacks major part of the N-terminal TAD.
    Source sequence(s)
    AC004857, AK294572, BC098403, BU737178, DC308837
    Consensus CDS
    CCDS55085.1
    UniProtKB/Swiss-Prot
    P50549
    UniProtKB/TrEMBL
    B7Z2C9
    Related
    ENSP00000384138.1, OTTHUMP00000201621, ENST00000403527.5, OTTHUMT00000326118
    Conserved Domains (2) summary
    smart00413
    Location:294378
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:21293
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  5. NM_001163151.1NP_001156623.1  ETS translocation variant 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents use of an alternate promoter, 5' UTR, 5' coding region, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (e) has a shorter and distinct N-terminus, compared to isoform a. This isoform lacks the N-terminal TAD.
    Source sequence(s)
    AC004857, AK299693, BU737178, DC308837
    Consensus CDS
    CCDS55083.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000411626.2, ENST00000420159.6
    Conserved Domains (2) summary
    smart00413
    Location:276360
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:21275
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  6. NM_001163152.1NP_001156624.1  ETS translocation variant 1 isoform f

    See identical proteins and their annotated locations for NP_001156624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter, 5' UTR, 5' coding region, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus and lacks an internal segment, compared to isoform a. This isoform lacks major part of the N-terminal TAD.
    Source sequence(s)
    AC004857, AK299693, AK316007, BU737178, DC308837
    Consensus CDS
    CCDS55084.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000382293.3, ENST00000399357.7
    Conserved Domains (2) summary
    smart00413
    Location:231315
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:21230
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  7. NM_004956.4NP_004947.2  ETS translocation variant 1 isoform a

    See identical proteins and their annotated locations for NP_004947.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). This isoform contains the N-terminal TAD.
    Source sequence(s)
    AC004857, BC098403, BU737178, DA114165
    Consensus CDS
    CCDS55088.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000405327.1, OTTHUMP00000201615, ENST00000430479.5, OTTHUMT00000326111
    Conserved Domains (2) summary
    smart00413
    Location:334418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

RNA

  1. NR_120445.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate 5' exon and includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004857, BC045776, BU737178, DB099964

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    13891229..13991425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446679.1XP_024302447.1  ETS translocation variant 1 isoform X5

    Conserved Domains (2) summary
    smart00413
    Location:316400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  2. XM_024446677.1XP_024302445.1  ETS translocation variant 1 isoform X5

    Conserved Domains (2) summary
    smart00413
    Location:316400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  3. XM_024446678.1XP_024302446.1  ETS translocation variant 1 isoform X5

    Conserved Domains (2) summary
    smart00413
    Location:316400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  4. XM_011515168.3XP_011513470.1  ETS translocation variant 1 isoform X2

    See identical proteins and their annotated locations for XP_011513470.1

    UniProtKB/Swiss-Prot
    P50549
    Conserved Domains (2) summary
    smart00413
    Location:334418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  5. XM_005249636.5XP_005249693.1  ETS translocation variant 1 isoform X2

    See identical proteins and their annotated locations for XP_005249693.1

    UniProtKB/Swiss-Prot
    P50549
    Conserved Domains (2) summary
    smart00413
    Location:334418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  6. XM_005249635.5XP_005249692.1  ETS translocation variant 1 isoform X2

    See identical proteins and their annotated locations for XP_005249692.1

    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000385551.2, OTTHUMP00000201618, ENST00000405218.6
    Conserved Domains (2) summary
    smart00413
    Location:334418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  7. XM_011515170.3XP_011513472.1  ETS translocation variant 1 isoform X4

    Conserved Domains (2) summary
    smart00413
    Location:329413
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:11328
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  8. XM_011515167.3XP_011513469.1  ETS translocation variant 1 isoform X1

    UniProtKB/TrEMBL
    B5MCT2
    Related
    ENSP00000384085.4, OTTHUMP00000201620, ENST00000405358.8
    Conserved Domains (2) summary
    smart00413
    Location:348432
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:29347
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
  9. XM_024446676.1XP_024302444.1  ETS translocation variant 1 isoform X3

    Conserved Domains (2) summary
    smart00413
    Location:330414
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:29329
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
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