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

    Gene ID: 79791, updated on 2-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
    mouse all
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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 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
    		Compare labs

    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)

    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

    • 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

    Gene LinkOut

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

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