Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    ETV1 ETS variant 1 [ Homo sapiens (human) ]

    Gene ID: 2115, updated on 19-Mar-2017
    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]
    Orthologs
    Location:
    7p21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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
     
    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 from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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, OTTHUMP00000201619, ENST00000405192, 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, ENST00000242066
      Conserved Domains (2) summary
      smart00413
      Location:316400
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:1315
      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, OTTHUMP00000201617, ENST00000403685, OTTHUMT00000326113
      Conserved Domains (2) summary
      smart00413
      Location:316400
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:1315
      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, OTTHUMP00000201621, ENST00000403527, 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, ENST00000420159
      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, ENST00000399357
      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, OTTHUMP00000201615, ENST00000430479, OTTHUMT00000326111
      Conserved Domains (2) summary
      smart00413
      Location:334418
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:1333
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011515168.2XP_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:1333
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
    2. XM_005249636.4XP_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:1333
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
    3. XM_005249635.4XP_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, OTTHUMP00000201618, ENST00000405218, OTTHUMT00000326114
      Conserved Domains (2) summary
      smart00413
      Location:334418
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:1333
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
    4. XM_011515170.2XP_011513472.1  ETS translocation variant 1 isoform X3

      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
    5. XM_011515167.2XP_011513469.1  ETS translocation variant 1 isoform X1

      UniProtKB/TrEMBL
      B5MCT2
      Related
      ENSP00000384085, OTTHUMP00000201620, ENST00000405358, OTTHUMT00000326117
      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      13930444..14030782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center