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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
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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

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