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    ETV1 ETS variant transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 2115, updated on 3-Apr-2024

    Summary

    Official Symbol
    ETV1provided by HGNC
    Official Full Name
    ETS variant transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:3490
    See related
    Ensembl:ENSG00000006468 MIM:600541; AllianceGenome:HGNC:3490
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    7p21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (13891229..13991425, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (14023217..14123457, complement)
    105.20220307 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:13804943-13805521 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:13805522-13806099 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:13818290-13819489 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:13845564-13846328 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:13846329-13847091 Neighboring gene ribosomal protein L26 pseudogene 21 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:14024671-14025465 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:14030811-14031312 Neighboring gene uncharacterized LOC105375162 Neighboring gene MPRA-validated peak6401 silencer Neighboring gene solute carrier family 34 member 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr7:14104855-14105356 Neighboring gene ribosomal protein L6 pseudogene 21

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104699, MGC120533, MGC120534, DKFZp781L0674

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mechanosensory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system neuron development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ETS translocation variant 1
    Names
    ets variant gene 1
    ets-related protein 81

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      6760..105197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163147.2NP_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/TrEMBL
      B7Z2C9
      Related
      ENSP00000385381.2, ENST00000405192.6
      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_001163148.2NP_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/TrEMBL
      B7Z2C9
      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_001163149.2NP_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, AC004909, BC098403, BU737178, X87175
      Consensus CDS
      CCDS55086.1
      UniProtKB/TrEMBL
      B7Z2C9
      Related
      ENSP00000385686.1, ENST00000403685.5
      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_001163150.2NP_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/TrEMBL
      B7Z2C9
      Related
      ENSP00000384138.1, ENST00000403527.6
      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_001163151.2NP_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
      Consensus CDS
      CCDS55083.1
      UniProtKB/TrEMBL
      B7Z2C9
      Related
      ENSP00000393078.2, ENST00000438956.6
      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_001163152.2NP_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
      Consensus CDS
      CCDS55084.1
      UniProtKB/TrEMBL
      B7Z2C9
      Related
      ENSP00000394710.2, ENST00000443608.6
      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_001370555.1NP_001357484.1  ETS translocation variant 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC004857, AC004909
      Consensus CDS
      CCDS55088.1
      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
      UniProtKB/TrEMBL
      B7Z2C9
      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
    8. NM_001370556.1NP_001357485.1  ETS translocation variant 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC004857
      UniProtKB/TrEMBL
      B7Z2C9
      Conserved Domains (2) summary
      smart00413
      Location:318402
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:2317
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
    9. NM_004956.5NP_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
      Consensus CDS
      CCDS55088.1
      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
      UniProtKB/TrEMBL
      B7Z2C9
      Related
      ENSP00000405327.1, ENST00000430479.6
      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

    RNA

    1. NR_120445.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011515168.4XP_011513470.1  ETS translocation variant 1 isoform X2

      See identical proteins and their annotated locations for XP_011513470.1

      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
      UniProtKB/TrEMBL
      B7Z2C9
      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
    2. XM_047419985.1XP_047275941.1  ETS translocation variant 1 isoform X2

      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
    3. XM_047419987.1XP_047275943.1  ETS translocation variant 1 isoform X5

      Related
      ENSP00000242066.5, ENST00000242066.10
    4. XM_047419986.1XP_047275942.1  ETS translocation variant 1 isoform X2

      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
      Related
      ENSP00000385551.2, ENST00000405218.6
    5. XM_047419988.1XP_047275944.1  ETS translocation variant 1 isoform X5

    6. XM_011515170.4XP_011513472.1  ETS translocation variant 1 isoform X4

      UniProtKB/TrEMBL
      B7Z2C9
      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
    7. XM_024446676.2XP_024302444.1  ETS translocation variant 1 isoform X3

      UniProtKB/TrEMBL
      B7Z2C9
      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
    8. XM_011515167.4XP_011513469.1  ETS translocation variant 1 isoform X1

      UniProtKB/TrEMBL
      B5MCT2, B7Z2C9
      Related
      ENSP00000384085.4, 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      14023217..14123457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357473.1XP_054213448.1  ETS translocation variant 1 isoform X2

      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
    2. XM_054357474.1XP_054213449.1  ETS translocation variant 1 isoform X2

      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
    3. XM_054357478.1XP_054213453.1  ETS translocation variant 1 isoform X5

    4. XM_054357475.1XP_054213450.1  ETS translocation variant 1 isoform X2

      UniProtKB/Swiss-Prot
      A4D118, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, P50549, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
    5. XM_054357479.1XP_054213454.1  ETS translocation variant 1 isoform X5

    6. XM_054357477.1XP_054213452.1  ETS translocation variant 1 isoform X4

    7. XM_054357472.1XP_054213447.1  ETS translocation variant 1 isoform X1

      UniProtKB/TrEMBL
      B5MCT2
    8. XM_054357476.1XP_054213451.1  ETS translocation variant 1 isoform X3