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

Gene ID: 25793, updated on 11-Apr-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
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Genomic context

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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

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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. Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease. Keller Sarmiento IJ, et al. Parkinsonism Relat Disord, 2022 Nov. PMID 36274328
  2. The characteristics of FBXO7 and its role in human diseases. Zhong Y, et al. Gene, 2023 Jan 30. PMID 36261086
  3. 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
  4. 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
  5. Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family. Jin X, et al. J Clin Lab Anal, 2020 Aug. PMID 32274857, Free PMC Article

See all (113) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. The characteristics of FBXO7 and its role in human diseases.
    Title: The characteristics of FBXO7 and its role in human diseases.
  5. 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.
  6. 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.
  7. 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.
  8. A FBXO7/EYA2-SCF(FBXW7) axis promotes AXL-mediated maintenance of mesenchymal and immune evasion phenotypes of cancer cells.
    Title: A FBXO7/EYA2-SCF(FBXW7) axis promotes AXL-mediated maintenance of mesenchymal and immune evasion phenotypes of cancer cells.
  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
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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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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_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)
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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