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    FBXO7 F-box protein 7 [ Homo sapiens (human) ]

    Gene ID: 25793, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FBXO7provided by HGNC
    Official Full Name
    F-box protein 7provided by HGNC
    Primary source
    HGNC:HGNC:13586
    See related
    Ensembl:ENSG00000100225 MIM:605648; AllianceGenome:HGNC:13586
    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
    FBX; FBX7; PKPS; FBX07; PARK15
    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 it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 94.0), thyroid (RPKM 68.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXO7 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32474811..32498829)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32938705..32962724)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32870798..32894816)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr22:32790650-32790847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18876 Neighboring gene RNA 2',3'-cyclic phosphate and 5'-OH ligase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18877 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32870558-32871058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32871059-32871559 Neighboring gene BPI fold containing family C Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63238 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63240 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32897520-32898206 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:32898207-32898893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32924873-32925374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32925375-32925874 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32927678-32928315 Neighboring gene uncharacterized LOC124905103 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32928316-32928952 Neighboring gene synapsin III Neighboring gene SYN3 antisense RNA 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 only protein 7 gene in parkinsonian-pyramidal disease. Deng H, et al. JAMA Neurol, 2013 Jan. PMID 23318512
    2. Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease. Lorenzo-Betancor O, et al. Parkinsonism Relat Disord, 2020 Nov. PMID 33002721, Free PMC Article
    3. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Di Fonzo A, et al. Neurology, 2009 Jan 20. PMID 19038853
    4. The F-box protein, FBXO7, is required to maintain chromosome stability in humans. Palmer MCL, et al. Hum Mol Genet, 2022 May 4. PMID 34791250, Free PMC Article
    5. FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients. Luo LZ, et al. Neurosci Lett, 2010 Sep 27. PMID 20603184

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FBXO7 ubiquitinates PRMT1 to suppress serine synthesis and tumor growth in hepatocellular carcinoma.
      Title: FBXO7 ubiquitinates PRMT1 to suppress serine synthesis and tumor growth in hepatocellular carcinoma.
    2. FBXO7 Confers Mesenchymal Properties and Chemoresistance in Glioblastoma by Controlling Rbfox2-Mediated Alternative Splicing.
      Title: FBXO7 Confers Mesenchymal Properties and Chemoresistance in Glioblastoma by Controlling Rbfox2-Mediated Alternative Splicing.
    3. USP7 attenuates endoplasmic reticulum stress-induced apoptotic cell death through deubiquitination and stabilization of FBXO7.
      Title: USP7 attenuates endoplasmic reticulum stress-induced apoptotic cell death through deubiquitination and stabilization of FBXO7.
    4. FBXO7, a tumor suppressor in endometrial carcinoma, suppresses INF2-associated mitochondrial division.
      Title: FBXO7, a tumor suppressor in endometrial carcinoma, suppresses INF2-associated mitochondrial division.
    5. The characteristics of FBXO7 and its role in human diseases.
      Title: The characteristics of FBXO7 and its role in human diseases.
    6. Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease.
      Title: Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease.
    7. Fbxo7 promotes Cdk6 activity to inhibit PFKP and glycolysis in T cells.
      Title: Fbxo7 promotes Cdk6 activity to inhibit PFKP and glycolysis in T cells.
    8. The F-box protein, FBXO7, is required to maintain chromosome stability in humans.
      Title: The F-box protein, FBXO7, is required to maintain chromosome stability in humans.
    9. FBXO7 triggers caspase 8-mediated proteolysis of the transcription factor FOXO4 and exacerbates neuronal cytotoxicity.
      Title: FBXO7 triggers caspase 8-mediated proteolysis of the transcription factor FOXO4 and exacerbates neuronal cytotoxicity.
    10. Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.
      Title: Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    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
    Parkinsonian-pyramidal syndrome
    MedGen: C1850100 OMIM: 260300 GeneReviews: Parkinson Disease Overview
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    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

    • DKFZp686B08113

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagy of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lymphocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of lymphocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagy of mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of locomotion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Lewy body core IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Lewy body corona IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Lewy neurite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SCF ubiquitin ligase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in classical Lewy body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in glial cytoplasmic inclusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    F-box only protein 7

    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.

    Genomic

    1. NG_016001.2 RefSeqGene

      Range
      5092..29110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033024.2 → NP_001028196.1  F-box only protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001028196.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a different 5' UTR and 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2) with a distinct N- terminus, compared to isoform 1.
      Source sequence(s)
      AL050254, BI821903, BQ326686, BX409547
      Consensus CDS
      CCDS46695.1
      UniProtKB/TrEMBL
      A8K7F7
      Related
      ENSP00000388547.2, ENST00000452138.3
      Conserved Domains (3) summary
      pfam06881
      Location:292 → 326
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
      pfam11566
      Location:110 → 242
      PI31_Prot_N; PI31 proteasome regulator N-terminal
      pfam12937
      Location:256 → 299
      F-box-like; F-box-like

    2. NM_001257990.2 → NP_001244919.1  F-box only protein 7 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate exon in place of the first exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK301716, AL021937, AL050254, BI821903
      Consensus CDS
      CCDS58806.1
      UniProtKB/Swiss-Prot
      Q9Y3I1
      Related
      ENSP00000380571.1, ENST00000397426.5
      Conserved Domains (4) summary
      pfam06881
      Location:257 → 291
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
      pfam11566
      Location:75 → 207
      PI31_Prot_N; PI31 proteasome regulator N-terminal
      pfam12937
      Location:221 → 262
      F-box-like; F-box-like
      cl26464
      Location:317 → 406
      Atrophin-1; Atrophin-1 family

    3. NM_012179.4 → NP_036311.3  F-box only protein 7 isoform 1

      See identical proteins and their annotated locations for NP_036311.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AL050254, BX362053
      Consensus CDS
      CCDS13907.1
      UniProtKB/Swiss-Prot
      B4DNB3, B4DWX5, Q5TGC4, Q5TI86, Q96HM6, Q9UF21, Q9UKT2, Q9Y3I1
      UniProtKB/TrEMBL
      A8K7F7
      Related
      ENSP00000266087.7, ENST00000266087.12
      Conserved Domains (3) summary
      pfam06881
      Location:371 → 405
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
      pfam11566
      Location:189 → 321
      PI31_Prot_N; PI31 proteasome regulator N-terminal
      pfam12937
      Location:335 → 378
      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      32474811..32498829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      32938705..32962724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3I1.1 GenPept UniProtKB/Swiss-Prot:Q9Y3I1

    Gene LinkOut

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

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