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    FBXO46 F-box protein 46 [ Homo sapiens (human) ]

    Gene ID: 23403, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FBXO46provided by HGNC
    Official Full Name
    F-box protein 46provided by HGNC
    Primary source
    HGNC:HGNC:25069
    See related
    Ensembl:ENSG00000177051 MIM:609117; AllianceGenome:HGNC:25069
    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
    Fbx46; FBXO34L; 20D7-FC4
    Summary
    Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 4.8), testis (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO46 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45710629..45733177, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48538171..48560723, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46213887..46236435, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46194747-46195467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46196081-46196631 Neighboring gene small nuclear ribonucleoprotein D2 polypeptide Neighboring gene glutaminyl-peptide cyclotransferase like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14814 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46220214-46220884 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46220885-46221555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46223908-46224408 Neighboring gene Sharpr-MPRA regulatory regions 3721 and 14243 Neighboring gene Sharpr-MPRA regulatory region 6016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14817 Neighboring gene meiosis initiator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46250835-46251627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46266800-46267354 Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270229-46270864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270929-46271488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10795 Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA

    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. Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat. Alwazzan M, et al. Mamm Genome, 1998 Jun. PMID 9585442
    2. The SCF(FBXO46) ubiquitin ligase complex mediates degradation of the tumor suppressor FBXO31 and thereby prevents premature cellular senescence. Choppara S, et al. J Biol Chem, 2018 Oct 19. PMID 30171069, Free PMC Article
    3. FBH1 promotes DNA double-strand breakage and apoptosis in response to DNA replication stress. Jeong YT, et al. J Cell Biol, 2013 Jan 21. PMID 23319600, Free PMC Article
    4. Array MAPPIT: high-throughput interactome analysis in mammalian cells. Lievens S, et al. J Proteome Res, 2009 Feb. PMID 19159283
    5. FBXO38 Ubiquitin Ligase Controls Centromere Integrity via ZXDA/B Stability. Dibus N, et al. Front Cell Dev Biol, 2022. PMID 35813202, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. reveal that FBXO46 is a crucial proteasomal regulator of FBXO31 and thereby prevents senescence in normal growth conditions
      Title: The SCF(FBXO46) ubiquitin ligase complex mediates degradation of the tumor suppressor FBXO31 and thereby prevents premature cellular senescence.
    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
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    F-box only protein 46

    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_001080469.2 → NP_001073938.1  F-box only protein 46

      See identical proteins and their annotated locations for NP_001073938.1

      Status: VALIDATED

      Source sequence(s)
      AC007191, AC007774
      Consensus CDS
      CCDS46116.1
      UniProtKB/Swiss-Prot
      Q6PJ61
      Related
      ENSP00000410007.1, ENST00000317683.4
      Conserved Domains (1) summary
      pfam12937
      Location:473 → 507
      F-box-like; F-box-like

    2. NM_001329632.1 → NP_001316561.1  F-box only protein 46

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AC007191
      Consensus CDS
      CCDS46116.1
      UniProtKB/Swiss-Prot
      Q6PJ61
      Conserved Domains (1) summary
      pfam12937
      Location:473 → 507
      F-box-like; F-box-like

    3. NM_001329633.2 → NP_001316562.1  F-box only protein 46

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC007191, AC007774
      Consensus CDS
      CCDS46116.1
      UniProtKB/Swiss-Prot
      Q6PJ61
      Conserved Domains (1) summary
      pfam12937
      Location:473 → 507
      F-box-like; F-box-like

    4. NM_001329634.1 → NP_001316563.1  F-box only protein 46

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC007191, AC007774
      Consensus CDS
      CCDS46116.1
      UniProtKB/Swiss-Prot
      Q6PJ61
      Conserved Domains (1) summary
      pfam12937
      Location:473 → 507
      F-box-like; F-box-like

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45710629..45733177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438538.1 → XP_047294494.1  F-box only protein 46 isoform X1

      UniProtKB/Swiss-Prot
      Q6PJ61

    2. XM_047438539.1 → XP_047294495.1  F-box only protein 46 isoform X1

      UniProtKB/Swiss-Prot
      Q6PJ61

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48538171..48560723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320396.1 → XP_054176371.1  F-box only protein 46 isoform X1

      UniProtKB/Swiss-Prot
      Q6PJ61

    2. XM_054320397.1 → XP_054176372.1  F-box only protein 46 isoform X1

      UniProtKB/Swiss-Prot
      Q6PJ61
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PJ61.3 GenPept UniProtKB/Swiss-Prot:Q6PJ61

    Gene LinkOut

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

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