Human Gene FBXO7 (ENST00000266087.12_8) from GENCODE V47lift37
  Description: F-box protein 7, transcript variant 1 (from RefSeq NM_012179.4)
Gencode Transcript: ENST00000266087.12_8
Gencode Gene: ENSG00000100225.18_12
Transcript (Including UTRs)
   Position: hg19 chr22:32,870,798-32,894,816 Size: 24,019 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr22:32,870,990-32,894,517 Size: 23,528 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:32,870,798-32,894,816)mRNA (may differ from genome)Protein (522 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBX7_HUMAN
DESCRIPTION: RecName: Full=F-box only protein 7;
FUNCTION: Substrate recognition component of a (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.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: 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.
INTERACTION: P63208:SKP1; NbExp=2; IntAct=EBI-1161222, EBI-307486;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
DISEASE: Defects in FBXO7 are the cause of Parkinson disease type 15 (PARK15) [MIM:260300]; also known as parkinsonian-pyramidal syndrome. 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.
SIMILARITY: Contains 1 F-box domain.
SEQUENCE CAUTION: Sequence=AAF04471.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FBXO7
Diseases sorted by gene-association score: parkinson disease 15, autosomal recessive* (1569), fbxo7-related parkinson disease* (100), panophthalmitis (16), corneal endothelial dystrophy, autosomal recessive (12), purulent endophthalmitis (11), neurodegeneration with brain iron accumulation 2b (9), vertebrobasilar insufficiency (9), kufor-rakeb syndrome (8), hydrophthalmos (8), corneal edema (8), juvenile-onset parkinson disease (7), deep keratitis (6), glaucoma 3a, primary open angle, congenital, juvenile, or adult onset (6), amblyopia (5), infantile neuroaxonal dystrophy 1 (5), fuchs' endothelial dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 130.54 RPKM in Whole Blood
Total median expression: 1767.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -88.40192-0.460 Picture PostScript Text
3' UTR -69.30299-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001810 - F-box_dom_cyclin-like
IPR021625 - Inhibitor_PI31

Pfam Domains:
PF00646 - F-box domain
PF11566 - PI31 proteasome regulator N-terminal
PF12937 - F-box-like

SCOP Domains:
81383 - F-box domain
54236 - Ubiquitin-like
56568 - Non-globular alpha+beta subunits of globular proteins

ModBase Predicted Comparative 3D Structure on Q9Y3I1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0043130 ubiquitin binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000209 protein polyubiquitination
GO:0000422 mitophagy
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006626 protein targeting to mitochondrion
GO:0010975 regulation of neuron projection development
GO:0016567 protein ubiquitination
GO:0031647 regulation of protein stability
GO:0040012 regulation of locomotion
GO:0043687 post-translational protein modification
GO:0045620 negative regulation of lymphocyte differentiation
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:1901215 negative regulation of neuron death
GO:1903204 negative regulation of oxidative stress-induced neuron death
GO:1903208 negative regulation of hydrogen peroxide-induced neuron death
GO:1903599 positive regulation of mitophagy
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0019005 SCF ubiquitin ligase complex
GO:0032991 macromolecular complex
GO:0097409 glial cytoplasmic inclusion
GO:0097414 classical Lewy body
GO:0097462 Lewy neurite
GO:1990037 Lewy body core
GO:1990038 Lewy body corona


-  Descriptions from all associated GenBank mRNAs
  BC008361 - Homo sapiens F-box protein 7, mRNA (cDNA clone MGC:16046 IMAGE:3611049), complete cds.
AL050254 - Novel human gene mapping to chomosome 22.
AK226087 - Homo sapiens mRNA for F-box only protein 7 isoform 1 variant, clone: bm03741.
JD056130 - Sequence 37154 from Patent EP1572962.
JD414430 - Sequence 395454 from Patent EP1572962.
JD337167 - Sequence 318191 from Patent EP1572962.
CR456491 - Homo sapiens FBXO7 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.FBXO7.V2).
AK291972 - Homo sapiens cDNA FLJ76913 complete cds, highly similar to Homo sapiens F-box protein 7 (FBXO7), mRNA.
JD399374 - Sequence 380398 from Patent EP1572962.
AF233225 - Homo sapiens F-box protein FBX (FBX) mRNA, complete cds.
AB385082 - Synthetic construct DNA, clone: pF1KB5334, Homo sapiens FBXO7 gene for F-box only protein 7, complete cds, without stop codon, in Flexi system.
AM392740 - Synthetic construct Homo sapiens clone IMAGE:100002588 for hypothetical protein (FBXO7 gene).
CU013376 - Homo sapiens FBXO7, mRNA (cDNA clone IMAGE:100000251), complete cds, without stop codon, in Gateway system.
EU176789 - Synthetic construct Homo sapiens clone IMAGE:100011549; FLH195167.01L; RZPDo839A0584D F-box protein 7 (FBXO7) gene, encodes complete protein.
EU176790 - Synthetic construct Homo sapiens clone IMAGE:100011578; FLH263606.01L; RZPDo839A0684D F-box protein 7 (FBXO7) gene, encodes complete protein.
KJ898547 - Synthetic construct Homo sapiens clone ccsbBroadEn_07941 FBXO7 gene, encodes complete protein.
KR710114 - Synthetic construct Homo sapiens clone CCSBHm_00009874 FBXO7 (FBXO7) mRNA, encodes complete protein.
KR710115 - Synthetic construct Homo sapiens clone CCSBHm_00009875 FBXO7 (FBXO7) mRNA, encodes complete protein.
CU013088 - Homo sapiens FBXO7, mRNA (cDNA clone IMAGE:100000347), complete cds, with stop codon, in Gateway system.
BX648151 - Homo sapiens mRNA; cDNA DKFZp686J179 (from clone DKFZp686J179).
BX648220 - Homo sapiens mRNA; cDNA DKFZp686K179 (from clone DKFZp686K179).
AK297841 - Homo sapiens cDNA FLJ52705 complete cds, highly similar to F-box only protein 7.
AK301716 - Homo sapiens cDNA FLJ55022 complete cds, highly similar to F-box only protein 7.
AF129537 - Homo sapiens F-box protein Fbx7 (FBX7) mRNA, complete cds.
JD021127 - Sequence 2151 from Patent EP1572962.
JD034301 - Sequence 15325 from Patent EP1572962.
JD025143 - Sequence 6167 from Patent EP1572962.
BX648644 - Homo sapiens mRNA; cDNA DKFZp686B08113 (from clone DKFZp686B08113).
AK054739 - Homo sapiens cDNA FLJ30177 fis, clone BRACE2001065.
DQ585366 - Homo sapiens piRNA piR-52478, complete sequence.
BC041004 - Homo sapiens F-box protein 7, mRNA (cDNA clone IMAGE:5275502), with apparent retained intron.
JD410235 - Sequence 391259 from Patent EP1572962.
JD308329 - Sequence 289353 from Patent EP1572962.
JD347665 - Sequence 328689 from Patent EP1572962.
JD563751 - Sequence 544775 from Patent EP1572962.
JD146315 - Sequence 127339 from Patent EP1572962.
JD560829 - Sequence 541853 from Patent EP1572962.
JD543722 - Sequence 524746 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y3I1 (Reactome details) participates in the following event(s):

R-HSA-8952620 NEDD8:AcM-UBE2M binds CRL1 E3 ubiquitin ligase complex
R-HSA-8956200 MyrG-DCUN1D3 binds CRL1 E3 ubiquitin ligase complex
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-8952618 AcM-UBE2M transfers NEDD8 to CRL1 E3 ubiquitin ligase complex
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B4DNB3, B4DWX5, ENST00000266087.1, ENST00000266087.10, ENST00000266087.11, ENST00000266087.2, ENST00000266087.3, ENST00000266087.4, ENST00000266087.5, ENST00000266087.6, ENST00000266087.7, ENST00000266087.8, ENST00000266087.9, FBX7, FBX7_HUMAN, NM_012179, Q5TGC4, Q5TI86, Q96HM6, Q9UF21, Q9UKT2, Q9Y3I1, uc317igk.1, uc317igk.2
UCSC ID: ENST00000266087.12_8
RefSeq Accession: NM_012179.4
Protein: Q9Y3I1 (aka FBX7_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FBXO7:
parkinson-overview (Parkinson Disease Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.