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    FBXO42 F-box protein 42 [ Homo sapiens (human) ]

    Gene ID: 54455, updated on 11-Apr-2024

    Summary

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    Official Symbol
    FBXO42provided by HGNC
    Official Full Name
    F-box protein 42provided by HGNC
    Primary source
    HGNC:HGNC:29249
    See related
    Ensembl:ENSG00000037637 MIM:609109; AllianceGenome:HGNC:29249
    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
    JFK; Fbx42
    Summary
    Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; 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, Dec 2010]
    Expression
    Ubiquitous expression in skin (RPKM 6.4), fat (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16246840..16352480, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15688176..15793999, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16573335..16678975, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16557534-16558362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16563171-16563715 Neighboring gene ciliogenesis and planar polarity effector complex subunit 2 Neighboring gene metallothionein 1X pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16678240-16679014 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16686958-16687174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16706517-16707018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16707019-16707518 Neighboring gene ribosomal protein L22 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16712076-16712576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16712577-16713077 Neighboring gene SUZ RNA binding domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16719513-16720419 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16727910-16728085 Neighboring gene spermatogenesis associated 21

    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. Genetic analysis of the FBXO42 gene in Chinese Han patients with Parkinson's disease. Gao K, et al. BMC Neurol, 2013 Sep 25. PMID 24063688, Free PMC Article
    2. SCF(JFK) is a bona fide E3 ligase for ING4 and a potent promoter of the angiogenesis and metastasis of breast cancer. Yan R, et al. Genes Dev, 2015 Mar 15. PMID 25792601, Free PMC Article
    3. Substrate phosphorylation and feedback regulation in JFK-promoted p53 destabilization. Sun L, et al. J Biol Chem, 2011 Feb 11. PMID 21127074, Free PMC Article
    4. Ubiquitination and degradation of SUMO1 by small-molecule degraders extends survival of mice with patient-derived tumors. Bellail AC, et al. Sci Transl Med, 2021 Oct 13. PMID 34644148, Free PMC Article
    5. JFK, a Kelch domain-containing F-box protein, links the SCF complex to p53 regulation. Sun L, et al. Proc Natl Acad Sci U S A, 2009 Jun 23. PMID 19509332, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A genome-wide CRISPR screen identifies FBXO42 involvement in resistance toward MEK inhibition in NRAS-mutant melanoma.
      Title: A genome-wide CRISPR screen identifies FBXO42 involvement in resistance toward MEK inhibition in NRAS-mutant melanoma.
    2. SCF(JFK) as a bona fide E3 ligase for ING4 and unraveled the JFK-ING4-NF-kappaB axis as an important player in the development and progression of breast cancer
      Title: SCF(JFK) is a bona fide E3 ligase for ING4 and a potent promoter of the angiogenesis and metastasis of breast cancer.
    3. The findings of this study suggest that a haplotype of the FBXO42 gene might be associated with a higher susceptibility to PD.
      Title: Genetic analysis of the FBXO42 gene in Chinese Han patients with Parkinson's disease.
    4. Substrate phosphorylation and feedback regulation in JFK-promoted p53 destabilization.
      Title: Substrate phosphorylation and feedback regulation in JFK-promoted p53 destabilization.
    5. JFK promotes p53 turnover through assembly of an SCF (Skp1-Cul1-F-box) complex, revealing a pathway for the control of p53 degradation and providing a link between the SCF complex and p53 regulation.
      Title: JFK, a Kelch domain-containing F-box protein, links the SCF complex to p53 regulation.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1332

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    F-box only protein 42
    Names
    just one F-box and Kelch domain-containing protein

    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_018994.3 → NP_061867.1  F-box only protein 42

      See identical proteins and their annotated locations for NP_061867.1

      Status: VALIDATED

      Source sequence(s)
      AB037753, AW449773, BC063864, DA488838, HY007337
      Consensus CDS
      CCDS30613.1
      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4
      Related
      ENSP00000364742.3, ENST00000375592.8
      Conserved Domains (5) summary
      sd00038
      Location:119 → 168
      Kelch; KELCH repeat [structural motif]
      pfam12937
      Location:47 → 82
      F-box-like; F-box-like
      pfam13415
      Location:130 → 182
      Kelch_3; Galactose oxidase, central domain
      pfam13854
      Location:229 → 268
      Kelch_5; Kelch motif
      cl27059
      Location:228 → 360
      Guanylate_kin; Guanylate kinase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16246840..16352480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422747.1 → XP_047278703.1  F-box only protein 42 isoform X1

      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4

    2. XM_047422750.1 → XP_047278706.1  F-box only protein 42 isoform X1

      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4

    3. XM_047422751.1 → XP_047278707.1  F-box only protein 42 isoform X1

      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4

    4. XM_047422752.1 → XP_047278708.1  F-box only protein 42 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      50977..156623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332809.1 → XP_054188784.1  F-box only protein 42 isoform X1

      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4

    2. XM_054332810.1 → XP_054188785.1  F-box only protein 42 isoform X1

      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4

    3. XM_054332811.1 → XP_054188786.1  F-box only protein 42 isoform X1

      UniProtKB/Swiss-Prot
      B3KP30, Q5TEU8, Q6P3S6, Q86XI0, Q8N3N4, Q8N5F8, Q9BRM0, Q9P2L4

    4. XM_054332812.1 → XP_054188787.1  F-box only protein 42 isoform X3

    5. XM_054332813.1 → XP_054188788.1  F-box only protein 42 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      15688176..15793999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337107.1 → XP_054193082.1  F-box only protein 42 isoform X1

    2. XM_054337108.1 → XP_054193083.1  F-box only protein 42 isoform X1

    3. XM_054337109.1 → XP_054193084.1  F-box only protein 42 isoform X1

    4. XM_054337110.1 → XP_054193085.1  F-box only protein 42 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P3S6.1 GenPept UniProtKB/Swiss-Prot:Q6P3S6

    Gene LinkOut

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

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