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    FBXO47 F-box protein 47 [ Homo sapiens (human) ]

    Gene ID: 494188, updated on 17-Sep-2024

    Summary

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    Official Symbol
    FBXO47provided by HGNC
    Official Full Name
    F-box protein 47provided by HGNC
    Primary source
    HGNC:HGNC:31969
    See related
    Ensembl:ENSG00000204952 MIM:609498; AllianceGenome:HGNC:31969
    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
    Expression
    Restricted expression toward testis (RPKM 2.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO47 in Genome Data Viewer
    Location:
    17q12; 17q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38936432..38967403, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39799563..39831257, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37092685..37123656, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene LIM and SH3 protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37072928-37073106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37078252-37078862 Neighboring gene microRNA 6779 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:37085946-37086491 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:37086492-37087038 Neighboring gene LASP1 neighbor Neighboring gene uncharacterized LOC105371767 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:37168027-37168564 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:37168565-37169102 Neighboring gene long intergenic non-protein coding RNA 2079 Neighboring gene leucine rich repeat containing 37 member A11, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:37202329-37203528

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma. Simon-Kayser B, et al. Genes Chromosomes Cancer, 2005 May. PMID 15723337
    2. FBXO47 regulates telomere-inner nuclear envelope integration by stabilizing TRF2 during meiosis. Hua R, et al. Nucleic Acids Res, 2019 Dec 16. PMID 31724724, Free PMC Article
    3. SCF ubiquitin E3 ligase regulates DNA double-strand breaks in early meiotic recombination. Guan Y, et al. Nucleic Acids Res, 2022 May 20. PMID 35489071, Free PMC Article
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel mechanism of FBXO47 in telomeric shelterin subunit stabilization during meiosis.
      Title: FBXO47 regulates telomere-inner nuclear envelope integration by stabilizing TRF2 during meiosis.
    2. FBXO47 is preferentially expressed in normal tissue relative to the corresponding tumor tissue, particularly in the kidney, liver, and pancreas.
      Title: Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    F-box only protein 47

    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_001008777.3 → NP_001008777.2  F-box only protein 47

      See identical proteins and their annotated locations for NP_001008777.2

      Status: VALIDATED

      Source sequence(s)
      AC006441, AY700575, BC140879, DB340247
      Consensus CDS
      CCDS32639.1
      UniProtKB/Swiss-Prot
      B2RTZ4, Q5MNV8
      Related
      ENSP00000367319.2, ENST00000378079.3

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38936432..38967403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524866.4 → XP_011523168.1  F-box only protein 47 isoform X2

    2. XM_011524865.3 → XP_011523167.1  F-box only protein 47 isoform X1

    3. XM_011524867.3 → XP_011523169.1  F-box only protein 47 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39799563..39831257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316285.1 → XP_054172260.1  F-box only protein 47 isoform X2

    2. XM_054316284.1 → XP_054172259.1  F-box only protein 47 isoform X1

    3. XM_054316286.1 → XP_054172261.1  F-box only protein 47 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5MNV8.2 GenPept UniProtKB/Swiss-Prot:Q5MNV8

    Gene LinkOut

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

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