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Aliases for FBXO7 Gene

Aliases for FBXO7 Gene

  • F-Box Protein 7 2 3
  • FBX7 3 4 6
  • F-Box Only Protein 7 2 3
  • PARK15 3 6
  • PKPS 3 6
  • FBX 3 6
  • FBX07 3

External Ids for FBXO7 Gene

Previous GeneCards Identifiers for FBXO7 Gene

  • GC22P029566
  • GC22P031195
  • GC22P032870
  • GC22P015827

Summaries for FBXO7 Gene

Entrez Gene Summary for FBXO7 Gene

  • 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]

GeneCards Summary for FBXO7 Gene

FBXO7 (F-Box Protein 7) is a Protein Coding gene. Diseases associated with FBXO7 include parkinson disease 15, autosomal recessive and fbxo7-related parkinson disease. GO annotations related to this gene include ubiquitin-protein transferase activity.

UniProtKB/Swiss-Prot for FBXO7 Gene

  • Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PARK2 to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.

Gene Wiki entry for FBXO7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO7 Gene

Genomics for FBXO7 Gene

Regulatory Elements for FBXO7 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FBXO7 Gene

Start:
32,474,676 bp from pter
End:
32,498,831 bp from pter
Size:
24,156 bases
Orientation:
Plus strand

Genomic View for FBXO7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBXO7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO7 Gene

Proteins for FBXO7 Gene

  • Protein details for FBXO7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3I1-FBX7_HUMAN
    Recommended name:
    F-box only protein 7
    Protein Accession:
    Q9Y3I1
    Secondary Accessions:
    • B4DNB3
    • B4DWX5
    • Q5TGC4
    • Q5TI86
    • Q96HM6
    • Q9UF21
    • Q9UKT2

    Protein attributes for FBXO7 Gene

    Size:
    522 amino acids
    Molecular mass:
    58503 Da
    Quaternary structure:
    • Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO7) formed of CUL1, SKP1, RBX1 and FBXO7. Interacts via its C-terminal proline-rich region with DLGAP5. Interacts with BIRC2. Interacts with CDK6 and promotes its interaction with D-type cyclin. Isoform 1 interacts (via the N-terminal Ubl domain) with PARK2. Isoforms that lack the ubiquitin-like domain do not interact with PARK2. Isoform 1 and isoform 2 interact (via N-terminal region) with PINK1. Isoform 3 does not interact with PINK1. Interacts with PSMF1.
    SequenceCaution:
    • Sequence=AAF04471.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXO7 Gene

    Alternative splice isoforms for FBXO7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO7 Gene

Proteomics data for FBXO7 Gene at MOPED

Post-translational modifications for FBXO7 Gene

  • Ubiquitination at Lys309 and Lys393
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FBXO7 Gene

Domains for FBXO7 Gene

Gene Families for FBXO7 Gene

HGNC:
  • FBXO :F-boxes / "other"
  • PARK :Parkinson disease

Protein Domains for FBXO7 Gene

Suggested Antigen Peptide Sequences for FBXO7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3I1

UniProtKB/Swiss-Prot:

FBX7_HUMAN :
  • Q9Y3I1
Domain:
  • The ubiquitin-like region mediates interaction with PARK2
  • The proline-rich region is important for protein-protein interactions
  • Contains 1 F-box domain.
genes like me logo Genes that share domains with FBXO7: view

Function for FBXO7 Gene

Molecular function for FBXO7 Gene

UniProtKB/Swiss-Prot Function: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PARK2 to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.

Gene Ontology (GO) - Molecular Function for FBXO7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS 10531035
GO:0005515 protein binding IPI 15145941
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with FBXO7: view
genes like me logo Genes that share phenotypes with FBXO7: view

Animal Model Products

CRISPR Products

miRNA for FBXO7 Gene

miRTarBase miRNAs that target FBXO7

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBXO7

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FBXO7 Gene

Localization for FBXO7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO7 Gene

Cytoplasm. Nucleus. Mitochondrion. Cytoplasm, cytosol. Note=Predominantly cytoplasmic. A minor proportion is detected in the nucleus. Relocates from the cytosol to depolarized mitochondria.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBXO7 Gene COMPARTMENTS Subcellular localization image for FBXO7 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FBXO7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 23933751
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA 23933751
GO:0005829 cytosol IDA 18495667
genes like me logo Genes that share ontologies with FBXO7: view

Pathways for FBXO7 Gene

SuperPathways for FBXO7 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9Y3I1-FBX7_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for FBXO7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitochondrion degradation IMP 23933751
GO:0006511 ubiquitin-dependent protein catabolic process TAS 10531035
GO:0006626 protein targeting to mitochondrion IMP 23933751
GO:0008219 cell death --
GO:0016567 protein ubiquitination IMP 23933751
genes like me logo Genes that share ontologies with FBXO7: view

No data available for Pathways by source for FBXO7 Gene

Transcripts for FBXO7 Gene

Unigene Clusters for FBXO7 Gene

F-box protein 7:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBXO7

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO7 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11
SP1: - - - - - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - -
SP8: - -
SP9: - - - - - - -
SP10:
SP11:

Relevant External Links for FBXO7 Gene

GeneLoc Exon Structure for
FBXO7
ECgene alternative splicing isoforms for
FBXO7

Expression for FBXO7 Gene

mRNA expression in normal human tissues for FBXO7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBXO7 Gene

This gene is overexpressed in Whole Blood (9.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBXO7 Gene

SOURCE GeneReport for Unigene cluster for FBXO7 Gene Hs.5912

genes like me logo Genes that share expressions with FBXO7: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for FBXO7 Gene

Orthologs for FBXO7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO7 35
  • 99.49 (n)
  • 98.85 (a)
FBXO7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXO7 35
  • 86.24 (n)
  • 81 (a)
FBXO7 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO7 35
  • 86.4 (n)
  • 80.84 (a)
FBXO7 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo7 35
  • 79.65 (n)
  • 73.32 (a)
Fbxo7 16
Fbxo7 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXO7 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO7 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo7 35
  • 79.4 (n)
  • 72.74 (a)
chicken
(Gallus gallus)
Aves FBXO7 35
  • 69.29 (n)
  • 64.23 (a)
FBXO7 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO7 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo7 35
  • 56.14 (n)
  • 52.34 (a)
zebrafish
(Danio rerio)
Actinopterygii fbxo7 35
  • 50.99 (n)
  • 44.04 (a)
fbxo7 36
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5920 36
  • 27 (a)
OneToOne
Species with no ortholog for FBXO7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBXO7 Gene

ENSEMBL:
Gene Tree for FBXO7 (if available)
TreeFam:
Gene Tree for FBXO7 (if available)

Paralogs for FBXO7 Gene

Selected SIMAP similar genes for FBXO7 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FBXO7: view

No data available for Paralogs for FBXO7 Gene

Variants for FBXO7 Gene

Sequence variations from dbSNP and Humsavar for FBXO7 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs9726 -- 32,491,163(+) CTCTT(C/T)TGGCT reference, synonymous-codon
rs11107 - 32,479,203(-) TCCTG(C/T)ATGCT missense, reference
rs12810 -- 32,498,774(-) TCAAT(A/C)TAGAG utr-variant-3-prime
rs14698 -- 32,498,646(-) GGAGT(G/T)CAACT utr-variant-3-prime
rs130725 -- 32,494,127(+) AAAAA(-/AA)GAATA intron-variant

Relevant External Links for FBXO7 Gene

HapMap Linkage Disequilibrium report
FBXO7
Human Gene Mutation Database (HGMD)
FBXO7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FBXO7 Gene

Disorders for FBXO7 Gene

(1) OMIM Diseases for FBXO7 Gene (605648)

UniProtKB/Swiss-Prot

FBX7_HUMAN
  • Parkinson disease 15 (PARK15) [MIM:260300]: A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. {ECO:0000269 PubMed:18513678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FBXO7

Genetic Association Database (GAD)
FBXO7
Human Genome Epidemiology (HuGE) Navigator
FBXO7
genes like me logo Genes that share disorders with FBXO7: view

Publications for FBXO7 Gene

  1. Fbx7 functions in the SCF complex regulating Cdk1-cyclin B- phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region. (PMID: 15145941) Hsu J.-M. … Huang C.-Y.F. (J. Biol. Chem. 2004) 3 4 23
  2. Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. (PMID: 18495667) Kirk R. … McDonald N.Q. (J. Biol. Chem. 2008) 3 4 23
  3. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4
  4. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4

Products for FBXO7 Gene

Sources for FBXO7 Gene

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