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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
4
Cytoband
q31.3
Chromosome location (bp)
152320544 - 152536092
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5,6. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter brings them to the SCF complex for ubiquitination 7,8,9,10,11,12. Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NFE2L1, NOTCH2, MCL1, MLST8, RICTOR, and probably PSEN1 13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28. Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation 29. Involved in bone homeostasis and negative regulation of osteoclast differentiation 30. Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination 31. Also able to promote 'Lys-63'-linked ubiquitination in response to DNA damage 32. The SCF(FBXW7) complex facilitates double-strand break repair following phosphorylation by ATM: phosphorylation promotes localization to sites of double-strand breaks and 'Lys-63'-linked ubiquitination of phosphorylated XRCC4, enhancing DNA non-homologous end joining 33....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biological rhythms, DNA damage, DNA repair, Host-virus interaction, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
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 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 was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q969H0 [Direct mapping] F-box/WD repeat-containing protein 7
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001570[vasculogenesis] GO:0001944[vasculature development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007062[sister chromatid cohesion] GO:0007219[Notch signaling pathway] GO:0010629[negative regulation of gene expression] GO:0010868[negative regulation of triglyceride biosynthetic process] GO:0010883[regulation of lipid storage] GO:0010992[ubiquitin recycling] GO:0016567[protein ubiquitination] GO:0019005[SCF ubiquitin ligase complex] GO:0030324[lung development] GO:0030332[cyclin binding] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0031648[protein destabilization] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0042752[regulation of circadian rhythm] GO:0042802[identical protein binding] GO:0043130[ubiquitin binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045741[positive regulation of epidermal growth factor-activated receptor activity] GO:0045746[negative regulation of Notch signaling pathway] GO:0048471[perinuclear region of cytoplasm] GO:0048511[rhythmic process] GO:0050816[phosphothreonine residue binding] GO:0050821[protein stabilization] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0055088[lipid homeostasis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0090049[regulation of cell migration involved in sprouting angiogenesis] GO:0097027[ubiquitin-protein transferase activator activity] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1902806[regulation of cell cycle G1/S phase transition] GO:1903026[negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding] GO:1903146[regulation of autophagy of mitochondrion] GO:1903378[positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1990452[Parkin-FBXW7-Cul1 ubiquitin ligase complex] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process] GO:2000346[negative regulation of hepatocyte proliferation] GO:2000639[negative regulation of SREBP signaling pathway] GO:2001205[negative regulation of osteoclast development]
Q969H0 [Direct mapping] F-box/WD repeat-containing protein 7
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001944[vasculature development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007062[sister chromatid cohesion] GO:0010629[negative regulation of gene expression] GO:0010868[negative regulation of triglyceride biosynthetic process] GO:0010883[regulation of lipid storage] GO:0010992[ubiquitin recycling] GO:0016567[protein ubiquitination] GO:0019005[SCF ubiquitin ligase complex] GO:0030332[cyclin binding] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0032880[regulation of protein localization] GO:0042752[regulation of circadian rhythm] GO:0042802[identical protein binding] GO:0043130[ubiquitin binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045741[positive regulation of epidermal growth factor-activated receptor activity] GO:0045746[negative regulation of Notch signaling pathway] GO:0048511[rhythmic process] GO:0050816[phosphothreonine residue binding] GO:0050821[protein stabilization] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0055088[lipid homeostasis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0097027[ubiquitin-protein transferase activator activity] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1902806[regulation of cell cycle G1/S phase transition] GO:1903146[regulation of autophagy of mitochondrion] GO:1903378[positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1990452[Parkin-FBXW7-Cul1 ubiquitin ligase complex] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process] GO:2000346[negative regulation of hepatocyte proliferation] GO:2000639[negative regulation of SREBP signaling pathway] GO:2001205[negative regulation of osteoclast development]
Q969H0 [Direct mapping] F-box/WD repeat-containing protein 7
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001944[vasculature development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007062[sister chromatid cohesion] GO:0010629[negative regulation of gene expression] GO:0010868[negative regulation of triglyceride biosynthetic process] GO:0010883[regulation of lipid storage] GO:0010992[ubiquitin recycling] GO:0016567[protein ubiquitination] GO:0019005[SCF ubiquitin ligase complex] GO:0030332[cyclin binding] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0042752[regulation of circadian rhythm] GO:0042802[identical protein binding] GO:0043130[ubiquitin binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045741[positive regulation of epidermal growth factor-activated receptor activity] GO:0045746[negative regulation of Notch signaling pathway] GO:0048511[rhythmic process] GO:0050816[phosphothreonine residue binding] GO:0050821[protein stabilization] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0055088[lipid homeostasis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0097027[ubiquitin-protein transferase activator activity] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1902806[regulation of cell cycle G1/S phase transition] GO:1903146[regulation of autophagy of mitochondrion] GO:1903378[positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1990452[Parkin-FBXW7-Cul1 ubiquitin ligase complex] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process] GO:2000346[negative regulation of hepatocyte proliferation] GO:2000639[negative regulation of SREBP signaling pathway] GO:2001205[negative regulation of osteoclast development]
Q969H0 [Direct mapping] F-box/WD repeat-containing protein 7
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001944[vasculature development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0007062[sister chromatid cohesion] GO:0010629[negative regulation of gene expression] GO:0010868[negative regulation of triglyceride biosynthetic process] GO:0010883[regulation of lipid storage] GO:0010992[ubiquitin recycling] GO:0016567[protein ubiquitination] GO:0019005[SCF ubiquitin ligase complex] GO:0030332[cyclin binding] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0042752[regulation of circadian rhythm] GO:0042802[identical protein binding] GO:0043130[ubiquitin binding] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045741[positive regulation of epidermal growth factor-activated receptor activity] GO:0045746[negative regulation of Notch signaling pathway] GO:0048511[rhythmic process] GO:0050816[phosphothreonine residue binding] GO:0050821[protein stabilization] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0055088[lipid homeostasis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0097027[ubiquitin-protein transferase activator activity] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1902806[regulation of cell cycle G1/S phase transition] GO:1903146[regulation of autophagy of mitochondrion] GO:1903378[positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1990452[Parkin-FBXW7-Cul1 ubiquitin ligase complex] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process] GO:2000346[negative regulation of hepatocyte proliferation] GO:2000639[negative regulation of SREBP signaling pathway] GO:2001205[negative regulation of osteoclast development]
The Human Protein Atlas project is funded
