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Aliases for FBXO7 Gene

Aliases for FBXO7 Gene

  • F-Box Protein 7 2 3 5
  • F-Box Only Protein 7 2 3
  • FBX7 3 4
  • PARK15 3
  • FBX07 3
  • PKPS 3
  • FBX 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. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein kinase binding and 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO7 Gene

Genomics for FBXO7 Gene

Regulatory Elements for FBXO7 Gene

Enhancers for FBXO7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G032473 1.7 FANTOM5 ENCODE dbSUPER 27.2 +1.0 1044 4.7 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 FOS FBXO7 BPIFC SLC5A4 RFPL3 C22orf42 RFPL2 PIR46477
GH22G032485 0.9 dbSUPER 29.1 +12.3 12269 2.8 HDAC1 ATF1 PKNOX1 TCF12 ZNF766 GATA2 ELK1 CREM SMARCA5 CEBPB FBXO7 BPIFC PIR46477
GH22G032469 1 ENCODE dbSUPER 22.1 -4.6 -4575 0.9 HDAC1 PKNOX1 JUN BMI1 FOSL1 ZNF316 ZNF366 NFE2 FOS MAFK FBXO7 BPIFC
GH22G032508 0.8 dbSUPER 25.4 +35.7 35678 4.4 ATF1 CREB3L1 ZNF76 ARID4B ZBTB40 YY1 ZNF143 CREM THAP11 HCFC1 BPIFC FBXO7 LL22NC03-104C7.1 ENSG00000229673 SLC5A1 SLC5A4 GC22M032500
GH22G032528 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +57.1 57114 7.2 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP5 ZHX2 TIMP3 ENSG00000229673 LL22NC03-104C7.1 FBXO7 GC22M032500
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO7 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145453 924 2801 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 FOS SP3 SP5

Genomic Location for FBXO7 Gene

Chromosome:
22
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

Genes around FBXO7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FBXO7 Gene

  • Ubiquitination at Lys309 and isoforms=2, 3393
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for FBXO7
  • Santa Cruz Biotechnology (SCBT) Antibodies for FBXO7

No data available for DME Specific Peptides for FBXO7 Gene

Domains & Families for FBXO7 Gene

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 :
  • The ubiquitin-like region mediates interaction with PARK2.
Domain:
  • The ubiquitin-like region mediates interaction with PARK2.
  • The proline-rich region is important for protein-protein interactions.
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,EXP --
GO:0005515 protein binding IPI 15145941
GO:0019901 protein kinase binding IPI 18495667
GO:0031625 ubiquitin protein ligase binding IPI 16510124
GO:0043130 ubiquitin binding IDA 25029497
genes like me logo Genes that share ontologies with FBXO7: view
genes like me logo Genes that share phenotypes with FBXO7: view

Human Phenotype Ontology for FBXO7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBXO7 Gene

MGI Knock Outs for FBXO7:

Animal Model Products

miRNA for FBXO7 Gene

miRTarBase miRNAs that target FBXO7

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXO7 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5

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,IEA 16510124
GO:0005737 cytoplasm IDA 16510124
GO:0005739 mitochondrion IDA,IEA 23933751
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FBXO7: view

Pathways & Interactions for FBXO7 Gene

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

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:0000209 protein polyubiquitination TAS --
GO:0000422 mitophagy IMP 23933751
GO:0006511 ubiquitin-dependent protein catabolic process TAS 10531035
GO:0006626 protein targeting to mitochondrion IMP 23933751
GO:0010975 regulation of neuron projection development IMP 25029497
genes like me logo Genes that share ontologies with FBXO7: view

No data available for SIGNOR curated interactions for FBXO7 Gene

Transcripts for FBXO7 Gene

Unigene Clusters for FBXO7 Gene

F-box protein 7:
Representative Sequences:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x9.3).

Protein differential expression in normal tissues from HIPED for FBXO7 Gene

This gene is overexpressed in Spleen (8.0) and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO7 Gene



NURSA nuclear receptor signaling pathways regulating expression of FBXO7 Gene:

FBXO7

SOURCE GeneReport for Unigene cluster for FBXO7 Gene:

Hs.5912

Evidence on tissue expression from TISSUES for FBXO7 Gene

  • Nervous system(4.5)
  • Heart(4.3)
  • Pancreas(4.2)
  • Eye(3.6)
  • Lung(3)
  • Skin(2.5)
  • Blood(2.4)
  • Muscle(2.3)
  • Bone marrow(2.1)
  • Kidney(2.1)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • heart
Abdomen:
  • stomach
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with FBXO7: view

Primer Products

No data available for Protein tissue co-expression partners and 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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia FBXO7 34 35
  • 86.4 (n)
cow
(Bos Taurus)
Mammalia FBXO7 34 35
  • 86.24 (n)
mouse
(Mus musculus)
Mammalia Fbxo7 34 16 35
  • 79.65 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo7 34
  • 79.4 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO7 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO7 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO7 34 35
  • 69.29 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO7 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo7 34
  • 56.14 (n)
zebrafish
(Danio rerio)
Actinopterygii fbxo7 34 35
  • 50.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5920 35
  • 27 (a)
OneToOne
Species where no ortholog for FBXO7 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs71799110 Pathogenic, Parkinson disease 15 (PARK15) [MIM:260300] 32,493,269(+) ATCTG(C/G/T)GTGAT reference, missense
rs121918304 Pathogenic 32,498,453(+) CAGGG(A/C/T)GAGGC reference, synonymous-codon, stop-gained
rs121918305 Pathogenic 32,475,067(+) GCCGA(C/T)GCTGG upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs730880272 Pathogenic 32,493,282(+) TCGAG(G/T)TGATT splice-donor-variant
rs11538371 Likely benign 32,474,819(+) CTATT(C/T)CAGAG upstream-variant-2KB, utr-variant-5-prime

Variation tolerance for FBXO7 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO7 Gene

Human Gene Mutation Database (HGMD)
FBXO7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

MalaCards: The human disease database

(15) MalaCards diseases for FBXO7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 15, autosomal recessive
  • autosomal recessive early-onset parkinson disease 15
fbxo7-related parkinson disease
  • park15
panophthalmitis
purulent endophthalmitis
kufor-rakeb syndrome
  • ceroid lipofuscinosis, neuronal, 12
- elite association - COSMIC cancer census association via MalaCards
Search FBXO7 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:23933751}. 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO7
genes like me logo Genes that share disorders with FBXO7: view

No data available for Genatlas for FBXO7 Gene

Publications for FBXO7 Gene

  1. 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 22 64
  2. 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 22 64
  3. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4 64
  4. Structure of the FP domain of Fbxo7 reveals a novel mode of protein- protein interaction. (PMID: 24419388) Shang J. … Du Z. (Acta Crystallogr. D 2014) 3 4 64
  5. The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. (PMID: 23933751) Burchell V.S. … Plun-Favreau H. (Nat. Neurosci. 2013) 3 4 64

Products for FBXO7 Gene

Sources for FBXO7 Gene

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