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    Etv1 ets variant 1 [ Mus musculus (house mouse) ]

    Gene ID: 14009, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Etv1provided by MGI
    Official Full Name
    ets variant 1provided by MGI
    Primary source
    MGI:MGI:99254
    See related
    Ensembl:ENSMUSG00000004151 AllianceGenome:MGI:99254
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ER81; Etsrp81
    Summary
    Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including axon guidance; mechanosensory behavior; and positive regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system; and sensory organ. Orthologous to human ETV1 (ETS variant transcription factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 13.2), frontal lobe adult (RPKM 4.0) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Etv1 in Genome Data Viewer
    Location:
    12 A3; 12 17.99 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (38829655..38920484)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (38780082..38870483)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase, beta Neighboring gene RIKEN cDNA 4930428E07 gene Neighboring gene STARR-seq mESC enhancer starr_31937 Neighboring gene STARR-seq mESC enhancer starr_31938 Neighboring gene STARR-seq mESC enhancer starr_31940 Neighboring gene phosphatidylethanolamine binding protein 2 pseudogene Neighboring gene ribosomal protein, large, P0 pseudogene Neighboring gene predicted gene, 34611

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Er81 is expressed in a subpopulation of layer 5 neurons in rodent and primate neocortices. Yoneshima H, et al. Neuroscience, 2006. PMID 16289830
    2. The Transcription Factor ETV1 Induces Atrial Remodeling and Arrhythmia. Rommel C, et al. Circ Res, 2018 Aug 17. PMID 29930145
    3. ETV transcriptional upregulation is more reliable than RNA sequencing algorithms and FISH in diagnosing round cell sarcomas with CIC gene rearrangements. Kao YC, et al. Genes Chromosomes Cancer, 2017 Jun. PMID 28233365, Free PMC Article
    4. Differential regulation of dopaminergic gene expression by Er81. Cave JW, et al. J Neurosci, 2010 Mar 31. PMID 20357122, Free PMC Article
    5. The Etv1/Er81 transcription factor orchestrates activity-dependent gene regulation in the terminal maturation program of cerebellar granule cells. Abe H, et al. Proc Natl Acad Sci U S A, 2011 Jul 26. PMID 21746923, Free PMC Article

    See all (338) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Transcription Factor Etv1/Er81 Is Involved in the Differentiation of Sweet, Umami, and Sodium Taste Cells.
      Title: A Transcription Factor Etv1/Er81 Is Involved in the Differentiation of Sweet, Umami, and Sodium Taste Cells.
    2. Er81 Transcription Factor Fine-Tunes Striatal Cholinergic Interneuron Activity and Drives Habit Formation.
      Title: Er81 Transcription Factor Fine-Tunes Striatal Cholinergic Interneuron Activity and Drives Habit Formation.
    3. Etv transcription factors functionally diverge from their upstream FGF signaling in lens development.
      Title: Etv transcription factors functionally diverge from their upstream FGF signaling in lens development.
    4. Relationship between ETS Transcription Factor ETV1 and TGF-beta-regulated SMAD Proteins in Prostate Cancer.
      Title: Relationship between ETS Transcription Factor ETV1 and TGF-β-regulated SMAD Proteins in Prostate Cancer.
    5. Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development.
      Title: Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development.
    6. A cardiomyocyte-autonomous, ETV1-dependent pathway that is responsible for specification of rapid conduction zones in the heart was identified and ETV1 is sufficient to promote a His-Purkinje system transcriptional and functional program upon ventricular myocytes.
      Title: ETV1 activates a rapid conduction transcriptional program in rodent and human cardiomyocytes.
    7. ETV1 as an important component in the pathophysiology of atrial remodeling associated with atrial arrhythmias.
      Title: The Transcription Factor ETV1 Induces Atrial Remodeling and Arrhythmia.
    8. Here, we present a model in which the ETV1 promoter is used to specifically and inducibly drive Cre recombinase in ICC as a strategy to study GIST pathogenesis.
      Title: ETV1-Positive Cells Give Rise to BRAF(V600E) -Mutant Gastrointestinal Stromal Tumors.
    9. Loss of Etv1 resulted in a complete disruption of the normal sodium current heterogeneity that exists between atrial, VCS, and ventricular myocytes.
      Title: Transcription factor ETV1 is essential for rapid conduction in the heart.
    10. we described a RET-ER81-Neuregulin1 signaling pathway in neurons innervating Pacinian corpuscle somatosensory end organs, which is essential for communication between the innervating axon and the end organ
      Title: A RET-ER81-NRG1 Signaling Pathway Drives the Development of Pacinian Corpuscles.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (6)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mechanosensory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001163154.1 → NP_001156626.1  ETS translocation variant 1 isoform b

      See identical proteins and their annotated locations for NP_001156626.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter, 5' UTR, and 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK032224, CD776508
      Consensus CDS
      CCDS49054.1
      UniProtKB/TrEMBL
      E0CYN8, Q8CCR6
      Related
      ENSMUSP00000125676.2, ENSMUST00000159334.8
      Conserved Domains (2) summary
      smart00413
      Location:294 → 378
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:21 → 293
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    2. NM_001347379.1 → NP_001334308.1  ETS translocation variant 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (c) has the same N- and C-termini, but is shorter than isoform a.
      Source sequence(s)
      AK032224, AK035914, BB751428, CD776508, CT009742
      Consensus CDS
      CCDS83959.1
      UniProtKB/TrEMBL
      E0CZ54
      Related
      ENSMUSP00000125692.2, ENSMUST00000160856.8

    3. NM_007960.5 → NP_031986.1  ETS translocation variant 1 isoform a

      See identical proteins and their annotated locations for NP_031986.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK032224, AK035914, BB751428, CD776508, CT009742
      Consensus CDS
      CCDS49053.1
      UniProtKB/Swiss-Prot
      P41164
      UniProtKB/TrEMBL
      Q549J8
      Related
      ENSMUSP00000093442.4, ENSMUST00000095767.11
      Conserved Domains (2) summary
      smart00413
      Location:334 → 418
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:3 → 333
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      38829655..38920484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514968.5 → XP_006515031.1  ETS translocation variant 1 isoform X4

      See identical proteins and their annotated locations for XP_006515031.1

      UniProtKB/TrEMBL
      E0CYN8, Q8CCR6
      Conserved Domains (2) summary
      smart00413
      Location:294 → 378
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:21 → 293
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    2. XM_006514965.4 → XP_006515028.1  ETS translocation variant 1 isoform X2

      See identical proteins and their annotated locations for XP_006515028.1

      UniProtKB/Swiss-Prot
      P41164
      UniProtKB/TrEMBL
      Q549J8
      Conserved Domains (2) summary
      smart00413
      Location:334 → 418
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:3 → 333
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    3. XM_036157184.1 → XP_036013077.1  ETS translocation variant 1 isoform X4

      UniProtKB/TrEMBL
      E0CYN8, Q8CCR6
      Conserved Domains (2) summary
      smart00413
      Location:294 → 378
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:21 → 293
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    4. XM_006514964.5 → XP_006515027.1  ETS translocation variant 1 isoform X1

      Conserved Domains (2) summary
      smart00413
      Location:350 → 434
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:31 → 349
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    5. XM_036157185.1 → XP_036013078.1  ETS translocation variant 1 isoform X4

      UniProtKB/TrEMBL
      E0CYN8, Q8CCR6
      Conserved Domains (2) summary
      smart00413
      Location:294 → 378
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:21 → 293
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    6. XM_006514966.5 → XP_006515029.1  ETS translocation variant 1 isoform X3

      Conserved Domains (2) summary
      smart00413
      Location:332 → 416
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:31 → 331
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    7. XM_036157186.1 → XP_036013079.1  ETS translocation variant 1 isoform X7

      UniProtKB/TrEMBL
      E0CXD2, E0CYN8
      Related
      ENSMUSP00000124736.2, ENSMUST00000161980.8
      Conserved Domains (2) summary
      smart00413
      Location:276 → 360
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:21 → 275
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    8. XM_006514972.5 → XP_006515035.1  ETS translocation variant 1 isoform X8

      Conserved Domains (2) summary
      smart00413
      Location:203 → 287
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:4 → 202
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    9. XM_006514970.5 → XP_006515033.1  ETS translocation variant 1 isoform X6

      UniProtKB/TrEMBL
      E0CYN8
      Conserved Domains (2) summary
      smart00413
      Location:278 → 362
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:2 → 277
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    10. XM_006514969.5 → XP_006515032.1  ETS translocation variant 1 isoform X5

      Conserved Domains (2) summary
      smart00413
      Location:279 → 363
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:24 → 278
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41164.1 GenPept UniProtKB/Swiss-Prot:P41164

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