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    FBXO32 F-box protein 32 [ Homo sapiens (human) ]

    Gene ID: 114907, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FBXO32provided by HGNC
    Official Full Name
    F-box protein 32provided by HGNC
    Primary source
    HGNC:HGNC:16731
    See related
    Ensembl:ENSG00000156804 MIM:606604; AllianceGenome:HGNC:16731
    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
    Fbx32; MAFbx
    Summary
    This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
    Expression
    Broad expression in endometrium (RPKM 28.7), heart (RPKM 22.1) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO32 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123497889..123541206, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124628980..124672309, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124510129..124553446, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATPase family AAA domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124422560-124423060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124423061-124423561 Neighboring gene MPRA-validated peak7156 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19499 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:124429186-124429780 Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 6 Neighboring gene N-terminal glutamine amidase 1 Neighboring gene uncharacterized LOC124902105 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:124491440-124491940 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:124491941-124492441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124518725-124519269 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:124539974-124541173 Neighboring gene MPRA-validated peak7157 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19504 Neighboring gene RN7SK pseudogene 155 Neighboring gene kelch like family member 38

    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. Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells. Xu K, et al. Int J Mol Sci, 2023 Apr 22. PMID 37175415, Free PMC Article
    2. A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing. Ghasemi S, et al. BMC Med Genomics, 2022 Nov 7. PMID 36344977, Free PMC Article
    3. Ubiquitin E3 ligase Atrogin-1 protein is regulated via the rapamycin-sensitive mTOR-S6K1 signaling pathway in C2C12 muscle cells. Nishimura Y, et al. Am J Physiol Cell Physiol, 2022 Jul 1. PMID 35704697
    4. E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor. García-Valverde A, et al. Oncogene, 2021 Dec. PMID 34621020
    5. Preliminary Study of the Role F-Box Protein 32 (FBXO32) in Colorectal Neoplasms Through the Transforming Growth Factor beta (TGF-β)/Smad4 Signalling Pathway. Yuan X, et al. Med Sci Monit, 2018 Feb 21. PMID 29465067, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNMT1-mediated regulating on FBXO32 promotes the progression of glioma cells through the regulation of SKP1 activity.
      Title: DNMT1-mediated regulating on FBXO32 promotes the progression of glioma cells through the regulation of SKP1 activity.
    2. Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-kappaB/MGMT Axis.
      Title: Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-κB/MGMT Axis.
    3. The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression.
      Title: The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression.
    4. Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells.
      Title: Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells.
    5. A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to wholeexome sequencing.
      Title: A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing.
    6. Ubiquitin E3 ligase Atrogin-1 protein is regulated via the rapamycin-sensitive mTOR-S6K1 signaling pathway in C2C12 muscle cells.
      Title: Ubiquitin E3 ligase Atrogin-1 protein is regulated via the rapamycin-sensitive mTOR-S6K1 signaling pathway in C2C12 muscle cells.
    7. FBXO32 targets PHPT1 for ubiquitination to regulate the growth of EGFR mutant lung cancer.
      Title: FBXO32 targets PHPT1 for ubiquitination to regulate the growth of EGFR mutant lung cancer.
    8. E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor.
      Title: E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor.
    9. Association of genetic variants of FBXO32 and FOXO6 in the FOXO pathway with breast cancer risk.
      Title: Association of genetic variants of FBXO32 and FOXO6 in the FOXO pathway with breast cancer risk.
    10. Systematic Review: Models of Changes in Gene Expression of MTOR, MURF-1, and MAFBX in Rats and Mice.
      Title: Systematic Review: Models of Changes in Gene Expression of MTOR, MURF-1, and MAFBX in Rats and Mice.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32424, MGC33610

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to denervation involved in regulation of muscle adaptation ISS
    Inferred from Sequence or Structural Similarity
    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 Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    F-box only protein 32
    Names
    atrogin 1
    muscle atrophy F-box protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001242463.2 → NP_001229392.1  F-box only protein 32 isoform 3

      See identical proteins and their annotated locations for NP_001229392.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. This encodes a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC090193, AI077844, AK125888, EF143260
      Consensus CDS
      CCDS56553.1
      UniProtKB/Swiss-Prot
      Q969P5
      Related
      ENSP00000390790.2, ENST00000443022.2
      Conserved Domains (1) summary
      pfam06881
      Location:164 → 209
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A

    2. NM_058229.4 → NP_478136.1  F-box only protein 32 isoform 1

      See identical proteins and their annotated locations for NP_478136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has a longer and alternate 5' terminal sequence containing an in-frame translation start codon, as compared to variant 2. It encodes a longer isoform (1).
      Source sequence(s)
      AC090193, AI077844, AK056986, AK125888
      Consensus CDS
      CCDS6345.1
      UniProtKB/Swiss-Prot
      A4KYM0, Q969P5
      UniProtKB/TrEMBL
      Q498Y9
      Related
      ENSP00000428205.1, ENST00000517956.5
      Conserved Domains (1) summary
      pfam06881
      Location:257 → 302
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A

    3. NM_148177.3 → NP_680482.1  F-box only protein 32 isoform 2

      See identical proteins and their annotated locations for NP_680482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a shorter and alternate 5' terminal sequence lacking an in-frame translation start codon, as compared to variant 1. It uses a downstream in-frame translation start codon and encodes a shorter isoform (2).
      Source sequence(s)
      AC090193, AI077844, AK125888, BC024030, BC100020
      UniProtKB/TrEMBL
      I6L984, Q0VAQ6
      Conserved Domains (1) summary
      pfam06881
      Location:120 → 157
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      123497889..123541206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      124628980..124672309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969P5.1 GenPept UniProtKB/Swiss-Prot:Q969P5

    Gene LinkOut

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

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