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FBXO31 F-box protein 31 [ Homo sapiens (human) ]

Gene ID: 79791, updated on 27-Nov-2024

Summary

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Official Symbol
FBXO31provided by HGNC
Official Full Name
F-box protein 31provided by HGNC
Primary source
HGNC:HGNC:16510
See related
Ensembl:ENSG00000103264 MIM:609102; AllianceGenome:HGNC:16510
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBX14; Fbx31; MRT45; FBXO14; pp2386
Summary
This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression
Ubiquitous expression in fat (RPKM 13.6), ovary (RPKM 7.7) and 25 other tissues See more
Orthologs
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Genomic context

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See FBXO31 in Genome Data Viewer
Location:
16q24.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (87326987..87392121, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (93397874..93463013, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (87360593..87425727, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome 16 open reading frame 95 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87348819-87349319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11320 Neighboring gene C16orf95 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87364853-87365354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:87379751-87380306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87380307-87380861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87386425-87386966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:87399801-87400302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87403399-87404245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:87417185-87417838 Neighboring gene uncharacterized LOC124903747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:87417839-87418490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11321 Neighboring gene tRNA-Met (anticodon CAT) 6-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:87424900-87425858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11322 Neighboring gene microtubule associated protein 1 light chain 3 beta Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:87440788-87441987 Neighboring gene zinc finger CCHC-type containing 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87456781-87457290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87457291-87457798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87458817-87459326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87460343-87460850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87468667-87469584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:87486642-87487142 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:87490779-87491978 Neighboring gene nuclear receptor subfamily 3 group C member 1 pseudogene 1

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. F-box protein FBXO31 modulates apoptosis and epithelial-mesenchymal transition of cervical cancer via inactivation of the PI3K/AKT-mediated MDM2/p53 axis. Liu K, et al. Life Sci, 2020 Oct 15. PMID 32800832
  2. Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. Dzinovic I, et al. Ann Clin Transl Neurol, 2021 Apr. PMID 33675180, Free PMC Article
  3. The tumor suppressor FBXO31 preserves genomic integrity by regulating DNA replication and segregation through precise control of cyclin A levels. Dutta P, et al. J Biol Chem, 2019 Oct 11. PMID 31413110, Free PMC Article
  4. Overexpression of F-box only protein 31 predicts poor prognosis and deregulates p38α- and JNK-mediated apoptosis in esophageal squamous cell carcinoma. Liu J, et al. Int J Cancer, 2018 Jan 1. PMID 28905993
  5. FBXO31 suppresses lipogenesis and tumor progression in glioma by promoting ubiquitination and degradation of CD147. Feng Y, et al. Prostaglandins Other Lipid Mediat, 2022 Dec. PMID 35940557

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Aberrantly High FBXO31 Impairs Oocyte Quality in Premature Ovarian Insufficiency.
    Title: Aberrantly High FBXO31 Impairs Oocyte Quality in Premature Ovarian Insufficiency.
  2. FBXO31 is upregulated by METTL3 to promote pancreatic cancer progression via regulating SIRT2 ubiquitination and degradation.
    Title: FBXO31 is upregulated by METTL3 to promote pancreatic cancer progression via regulating SIRT2 ubiquitination and degradation.
  3. LincRNA ZNF529-AS1 inhibits hepatocellular carcinoma via FBXO31 and predicts the prognosis of hepatocellular carcinoma patients.
    Title: LincRNA ZNF529-AS1 inhibits hepatocellular carcinoma via FBXO31 and predicts the prognosis of hepatocellular carcinoma patients.
  4. FBXO31 sensitizes cancer stem cells-like cells to cisplatin by promoting ferroptosis and facilitating proteasomal degradation of GPX4 in cholangiocarcinoma.
    Title: FBXO31 sensitizes cancer stem cells-like cells to cisplatin by promoting ferroptosis and facilitating proteasomal degradation of GPX4 in cholangiocarcinoma.
  5. FBXO31 suppresses lipogenesis and tumor progression in glioma by promoting ubiquitination and degradation of CD147.
    Title: FBXO31 suppresses lipogenesis and tumor progression in glioma by promoting ubiquitination and degradation of CD147.
  6. Feedback-regulated transcriptional repression of FBXO31 by c-Myc triggers ovarian cancer tumorigenesis.
    Title: Feedback-regulated transcriptional repression of FBXO31 by c-Myc triggers ovarian cancer tumorigenesis.
  7. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Title: Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
  8. Loss of FBXO31-mediated degradation of DUSP6 dysregulates ERK and PI3K-AKT signaling and promotes prostate tumorigenesis.
    Title: Loss of FBXO31-mediated degradation of DUSP6 dysregulates ERK and PI3K-AKT signaling and promotes prostate tumorigenesis.
  9. Effects and mechanisms of FBXO31 on Taxol chemoresistance in esophageal squamous cell carcinoma.
    Title: Effects and mechanisms of FBXO31 on Taxol chemoresistance in esophageal squamous cell carcinoma.
  10. Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
    Title: Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (30)

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

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 45
MedGen: C4014864 OMIM: 615979 GeneReviews: Not available
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EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
EBI GWAS Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9527, FLJ22477, MGC15419, DKFZp434B027, DKFZp434J1815

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cyclin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in anaphase-promoting complex-dependent catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic G1 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of SCF ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SCF ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
F-box only protein 31
Names
SCF ubiquitin ligase specificity factor
putative breast cancer tumor-suppressor

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.

Genomic

  1. NG_047196.1 RefSeqGene

    Range
    13332..70121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282683.2 → NP_001269612.1  F-box only protein 31 isoform 2

    See identical proteins and their annotated locations for NP_001269612.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010531, AL117444, AL576585, BC012748, BE465371, BG718342, BI914636, BM151642, BX106211, BX329100, DA493744, DB444853
    Consensus CDS
    CCDS73922.1
    UniProtKB/TrEMBL
    A0A0C4DGU8
    Related
    ENSP00000479703.1, ENST00000618298.6
    Conserved Domains (2) summary
    PRK07764
    Location:203 → 273
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam12014
    Location:113 → 171
    DUF3506; Domain of unknown function (DUF3506)

  2. NM_024735.5 → NP_079011.3  F-box only protein 31 isoform 1

    See identical proteins and their annotated locations for NP_079011.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF318348, AL576585, BC012748, BE465371, BI596608, BI914636, BM151642, BX106211, BX329100, DA493744
    Consensus CDS
    CCDS32501.1
    UniProtKB/Swiss-Prot
    Q5K680, Q5XUX0, Q8WYV1, Q96D73, Q9UFV4
    UniProtKB/TrEMBL
    A0A1B0GV77
    Related
    ENSP00000310841.4, ENST00000311635.12
    Conserved Domains (2) summary
    pfam12014
    Location:285 → 343
    DUF3506; Domain of unknown function (DUF3506)
    pfam12937
    Location:75 → 113
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    87326987..87392121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    93397874..93463013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5XUX0.2 GenPept UniProtKB/Swiss-Prot:Q5XUX0

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