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

    Gene ID: 25793, updated on 1-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBXO7 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32474811..32498829)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32938705..32962724)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Parkinsonian-pyramidal syndrome
    MedGen: C1850100 OMIM: 260300 GeneReviews: Parkinson Disease Overview
    Compare labs

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    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 

    NCBI Reference Sequences (RefSeq)

    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_001033024.2NP_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:292326
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
      pfam11566
      Location:110242
      PI31_Prot_N; PI31 proteasome regulator N-terminal
      pfam12937
      Location:256299
      F-box-like; F-box-like
    2. NM_001257990.2NP_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:257291
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
      pfam11566
      Location:75207
      PI31_Prot_N; PI31 proteasome regulator N-terminal
      pfam12937
      Location:221262
      F-box-like; F-box-like
      cl26464
      Location:317406
      Atrophin-1; Atrophin-1 family
    3. NM_012179.4NP_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:371405
      Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
      pfam11566
      Location:189321
      PI31_Prot_N; PI31 proteasome regulator N-terminal
      pfam12937
      Location:335378
      F-box-like; F-box-like

    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_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)