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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
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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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