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

Gene ID: 23403, updated on 5-Mar-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
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Genomic context

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Location:
19q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45710629..45733177, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48538171..48560723, complement)
105.20220307 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
  • 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. 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
  2. Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat. Alwazzan M, et al. Mamm Genome, 1998 Jun. PMID 9585442
  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 (27) 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_2023_10

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

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