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    EBLN1 endogenous Bornavirus like nucleoprotein 1 [ Homo sapiens (human) ]

    Gene ID: 340900, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EBLN1provided by HGNC
    Official Full Name
    endogenous Bornavirus like nucleoprotein 1provided by HGNC
    Primary source
    HGNC:HGNC:39430
    See related
    Ensembl:ENSG00000223601 MIM:613249; AllianceGenome:HGNC:39430
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EBLN-1
    Orthologs
    all
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    Genomic context

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    See EBLN1 in Genome Data Viewer
    Location:
    10p12.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (22208475..22218015, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (22227526..22237074, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22497404..22506944, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C1 Neighboring gene RN7SK pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3124 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:22292323-22292823 Neighboring gene Sharpr-MPRA regulatory region 4958 Neighboring gene nonconserved acetylation island sequence 68 enhancer Neighboring gene Sharpr-MPRA regulatory region 4688 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:22339665-22339854 Neighboring gene MPRA-validated peak904 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22417997-22418608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3127 Neighboring gene MPRA-validated peak905 silencer Neighboring gene MPRA-validated peak906 silencer Neighboring gene adiponectin receptor 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2201 Neighboring gene tRNA-Asn (anticodon GTT) 2-3 Neighboring gene proteasome activator subunit 2 pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The bornavirus-derived human protein EBLN1 promotes efficient cell cycle transit, microtubule organisation and genome stability. Myers KN, et al. Sci Rep, 2016 Oct 14. PMID 27739501, Free PMC Article
    2. Comprehensive analysis of endogenous bornavirus-like elements in eukaryote genomes. Horie M, et al. Philos Trans R Soc Lond B Biol Sci, 2013 Sep 19. PMID 23938751, Free PMC Article
    3. No evidence for natural selection on endogenous borna-like nucleoprotein elements after the divergence of Old World and New World monkeys. Kobayashi Y, et al. PLoS One, 2011. PMID 21912690, Free PMC Article
    4. Knock-Down of Endogenous Bornavirus-Like Nucleoprotein 1 Inhibits Cell Growth and Induces Apoptosis in Human Oligodendroglia Cells. He P, et al. Int J Mol Sci, 2016 Mar 24. PMID 27023521, Free PMC Article
    5. Unexpected inheritance: multiple integrations of ancient bornavirus and ebolavirus/marburgvirus sequences in vertebrate genomes. Belyi VA, et al. PLoS Pathog, 2010 Jul 29. PMID 20686665, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. human EBLN1 possesses important cellular functions within human cells.
      Title: The bornavirus-derived human protein EBLN1 promotes efficient cell cycle transit, microtubule organisation and genome stability.
    2. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women.
      Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
    3. Numerous genes were dysregulated by Endogenous bornavirus-like nucleoprotein 1 silencing, some of which may be key target genes of Rho family GTPase 3, oncostatin M receptor, and cAMP responsive element binding protein 3-like 2 protein.
      Title: Knock-Down of Endogenous Bornavirus-Like Nucleoprotein 1 Inhibits Cell Growth and Induces Apoptosis in Human Oligodendroglia Cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    General protein information

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    Preferred Names
    endogenous Bornavirus-like nucleoprotein 1
    Names
    endogenous Borna-like N element-1
    endogenous Borna-like N element-containing protein 1

    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_001199938.2 → NP_001186867.1  endogenous Bornavirus-like nucleoprotein 1

      See identical proteins and their annotated locations for NP_001186867.1

      Status: VALIDATED

      Source sequence(s)
      AL157831
      Consensus CDS
      CCDS60498.1
      UniProtKB/Swiss-Prot
      P0CF75, S4R316
      Conserved Domains (1) summary
      pfam06407
      Location:18 → 366
      BDV_P40; Borna disease virus P40 protein

    2. NM_001394757.1 → NP_001381686.1  endogenous Bornavirus-like nucleoprotein 1

      Status: VALIDATED

      Source sequence(s)
      AL157831
      Consensus CDS
      CCDS60498.1
      UniProtKB/Swiss-Prot
      P0CF75, S4R316
      Related
      ENSP00000473842.1, ENST00000422359.3
      Conserved Domains (1) summary
      pfam06407
      Location:18 → 366
      BDV_P40; Borna disease virus P40 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      22208475..22218015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      22227526..22237074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CF75.2 GenPept UniProtKB/Swiss-Prot:P0CF75

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
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