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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 Early-Onset and Panophthalmitis. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (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 PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.

Gene Wiki entry for FBXO7 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for FBXO7 Gene

Promoters and enhancers for FBXO7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I032473 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 577.3 +1.0 1043 4.7 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 ZNF143 FBXO7 BPIFC SLC5A4 RFPL3 C22orf42 RFPL2 PIR46477
GH22I032410 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 11 -63.1 -63128 2.8 ARID4B SIN3A FEZF1 DMAP1 YY1 GLIS2 ZNF207 ZNF143 FOS RUNX3 RTCB LOC100422292 FBXO7 ENSG00000241954 RFPL3S LOC339666 IGLVIVOR22-2 BPIFC RFPL2 RFPL3
GH22I032469 Enhancer 0.9 ENCODE dbSUPER 22.1 -4.6 -4575 0.9 HDAC1 MEIS2 PKNOX1 JUN BMI1 FOSL1 CTBP1 ZNF316 ZNF366 RCOR1 FBXO7 BPIFC
GH22I032528 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +57.1 57114 7.2 CLOCK FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 GLIS2 TIMP3 ENSG00000229673 LL22NC03-104C7.1 FBXO7 GC22M032500 SYN3
GH22I032508 Enhancer 0.6 dbSUPER 25.4 +35.7 35678 4.4 GATAD2A ARID4B YY1 KAT8 SKI JUND LCORL ATF3 RCOR2 CREB1 BPIFC FBXO7 LL22NC03-104C7.1 ENSG00000229673 SLC5A1 SLC5A4 GC22M032500 SYN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO7 gene promoter:

Genomic Locations for FBXO7 Gene

Genomic Locations for FBXO7 Gene
chr22:32,474,676-32,498,831
(GRCh38/hg38)
Size:
24,156 bases
Orientation:
Plus strand
chr22:32,870,663-32,894,818
(GRCh37/hg19)

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 PRKN. Isoforms that lack the ubiquitin-like domain do not interact with PRKN. 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 posLast=393393

No data available for DME Specific Peptides for FBXO7 Gene

Domains & Families for FBXO7 Gene

Gene Families for FBXO7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 PRKN.
Domain:
  • The ubiquitin-like region mediates interaction with PRKN.
  • 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 PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.

Phenotypes From GWAS Catalog for FBXO7 Gene

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

CRISPR Products

miRNA for FBXO7 Gene

miRTarBase miRNAs that target FBXO7

Inhibitory RNA Products

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

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 IEA,IDA 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

Pathways by source for FBXO7 Gene

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 autophagy of mitochondrion 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

Drugs & Compounds for FBXO7 Gene

No Compound Related Data Available

Transcripts for FBXO7 Gene

Unigene Clusters for FBXO7 Gene

F-box protein 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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(3.2)
  • 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 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia FBXO7 33 34
  • 86.4 (n)
cow
(Bos Taurus)
Mammalia FBXO7 33 34
  • 86.24 (n)
mouse
(Mus musculus)
Mammalia Fbxo7 33 16 34
  • 79.65 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo7 33
  • 79.4 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO7 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO7 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO7 33 34
  • 69.29 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO7 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo7 33
  • 56.14 (n)
zebrafish
(Danio rerio)
Actinopterygii fbxo7 33 34
  • 50.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5920 34
  • 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 Variation AA Info Type
rs11107 benign, not specified, Parkinson Disease, Recessive 32,479,203(+) G/A/C coding_sequence_variant, initiator_codon_variant, intron_variant, missense_variant
rs11538371 likely-benign, Parkinson Disease, Recessive 32,474,819(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs121918304 pathogenic, Parkinson disease 15 32,498,453(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs121918305 pathogenic, Parkinson disease 15 32,475,067(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs139135860 uncertain-significance, Parkinson Disease, Recessive, Parkinson disease 15 32,479,132(+) G/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, splice_acceptor_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

- 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.

Additional Disease Information for FBXO7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 NQ (The Journal of biological chemistry 2008) 3 4 22 58
  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 JM … Huang CY (The Journal of biological chemistry 2004) 3 4 22 58
  3. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C … Pagano M (Current biology : CB 1999) 2 3 4 58
  4. Structure of the FP domain of Fbxo7 reveals a novel mode of protein-protein interaction. (PMID: 24419388) Shang J … Du Z (Acta crystallographica. Section D, Biological crystallography 2014) 3 4 58
  5. The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. (PMID: 23933751) Burchell VS … Plun-Favreau H (Nature neuroscience 2013) 3 4 58

Products for FBXO7 Gene

Sources for FBXO7 Gene

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