Aliases for FBXO4 Gene
External Ids for FBXO4 Gene
- HGNC: 13583
- Entrez Gene: 26272
- Ensembl: ENSG00000151876
- OMIM: 609090
- UniProtKB: Q9UKT5
Previous GeneCards Identifiers for FBXO4 Gene
- GC05P042223
- GC05P043025
- GC05P041970
- GC05P041961
- GC05P041878
Summaries for FBXO4 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for FBXO4 Gene
FBXO4 (F-Box Protein 4) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ubiquitin-protein transferase activity.
UniProtKB/Swiss-Prot for FBXO4 Gene
-
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO4 Gene
Genomics for FBXO4 Gene
GeneHancer (GH) Regulatory Elements for FBXO4 Gene
Promoters and enhancers for FBXO4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around FBXO4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FBXO4 gene promoter:
-
- Nkx3-1 v4
- GATA-1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- AML1a
- Msx-1
- aMEF-2
- MEF-2A
Regulatory Element Products
Genomic Locations for FBXO4 Gene
Genomic Locations for FBXO4 Gene
- chr5:41,925,252-42,040,228
- (GRCh38/hg38)
- Size:
- 114,977 bases
- Orientation:
- Plus strand
- chr5:41,925,356-41,941,845
- (GRCh37/hg19)
- Size:
- 16,490 bases
- Orientation:
- Plus strand
Genomic View for FBXO4 Gene
Genes around FBXO4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5p13.1 by Entrez Gene
- 5p13.1 by HGNC
- 5p13.1 by Ensembl
FBXO4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FBXO4 Gene
Proteins for FBXO4 Gene
-
Protein details for FBXO4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UKT5-FBX4_HUMAN
- Recommended name:
- F-box only protein 4
- Protein Accession:
- Q9UKT5
- Q68CU8
- Q86VT8
- Q9UK98
Protein attributes for FBXO4 Gene
- Size:
- 387 amino acids
- Molecular mass:
- 44136 Da
- Quaternary structure:
-
- Homodimer. Directly interacts with SKP1 and CUL1. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO4) formed of CUL1, SKP1, RBX1 and FBXO4. Interacts with TERF1. This interaction is prevented in the presence of GNL3L. Identified in a complex with CRYAB and CCND1.
Protein Expression for FBXO4 Gene
Post-translational modifications for FBXO4 Gene
- Phosphorylation at Ser-12 varies during the cell cycle. It is low in resting cells and high in the S phase and the G2/M phase of the cell cycle. Phosphorylation is decreased during late G1 phase (By similarity). Phosphorylation at Ser-12 promotes homodimerization and is necessary for optimal ubiquitin ligase activity towards CCND1.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for FBXO4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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-
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Assay Products
No data available for DME Specific Peptides for FBXO4 Gene
Domains & Families for FBXO4 Gene
Gene Families for FBXO4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for FBXO4 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXO4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXO4 Gene
Function for FBXO4 Gene
Molecular function for FBXO4 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | -- |
| GO:0005515 | protein binding | IEA,IPI | 10531035 |
| GO:0042803 | protein homodimerization activity | IPI | 20181953 |
| GO:0061630 | ubiquitin protein ligase activity | IEA | -- |
Phenotypes for FBXO4 Gene
- MGI mutant phenotypes for FBXO4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FBXO4:
Animal Model Products
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-
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miRNA for FBXO4 Gene
- miRTarBase miRNAs that target FBXO4
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Clone Products
- Sino Biological Human cDNA Clone for FBXO4
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-
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Horizon Cell Lines for FBXO4
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO4 Gene
Localization for FBXO4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBXO4 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| extracellular | 1 |
| peroxisome | 1 |
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000151 | ubiquitin ligase complex | IDA | 10531035 |
| GO:0005737 | cytoplasm | IDA | 21378169 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0019005 | SCF ubiquitin ligase complex | IDA,IEA | 20181953 |
Pathways & Interactions for FBXO4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Chaperonin-mediated protein folding |
.94
|
|
| 3 | Ubiquitin mediated proteolysis | ||
| 4 | Innate Immune System |
.61
|
|
| 5 | Metabolism of proteins | ||
Pathways by source for FBXO4 Gene
1 KEGG pathway for FBXO4 Gene
UniProtKB/Swiss-Prot Q9UKT5-FBX4_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FBXO4 Gene
Selected Interacting proteins:
Q9UKT5-FBX4_HUMAN
ENSP00000281623
for FBXO4 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for FBXO4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | IDA,TAS | -- |
| GO:0007568 | aging | IEA | -- |
| GO:0010608 | posttranscriptional regulation of gene expression | IEA | -- |
| GO:0016567 | protein ubiquitination | TAS | 24389012 |
| GO:0019725 | cellular homeostasis | IEA | -- |
Transcripts for FBXO4 Gene
mRNA/cDNA for FBXO4 Gene
- (6) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (85) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000513496 719 bps (uc063dgs.1)
- ENST00000296812 1731 bps (uc003jmp.4)
- ENST00000281623 1682 bps (uc003jmq.4)
- ENST00000504463 831 bps (uc063dgt.1)
- ENST00000509134 1284 bps (uc063dgu.1)
CRISPR Products
-
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- Applied Biological Materials CRISPR for FBXO4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO4
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for FBXO4
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- Applied Biological Materials Clones for FBXO4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||
| SP6: | - | - |
Expression for FBXO4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Spleen (Hematopoietic System)
- Blood (Cardiovascular System)
- Neural Ectoderm (Nervous System)
- Neural Tube (Nervous System)
This gene is overexpressed in Stomach (11.6), CD8 Tcells (9.9), Testis (9.6), and Ovary (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBXO4 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXO4 Gene:
FBXO4SOURCE GeneReport for Unigene cluster for FBXO4 Gene:
Hs.165575Evidence on tissue expression from TISSUES for FBXO4 Gene
- Liver(4.1)
- Nervous system(4.1)
Primer Products
-
OriGene qPCR primer pairs for FBXO4
-
OriGene qPCR primer pairs and template standards for FBXO4
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Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO4 Gene
Orthologs for FBXO4 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO4 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FBXO4 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FBXO4 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fbxo4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxo4 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXO4 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXO4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FBXO4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbxo4 33 |
|
||
| Str.20453 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24187 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:dkey-46a10.2 33 |
|
||
| FBXO4 34 |
|
OneToOne |
- Species where no ortholog for FBXO4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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 FBXO4 Gene
- ENSEMBL:
- Gene Tree for FBXO4 (if available)
- TreeFam:
- Gene Tree for FBXO4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FBXO4: view image
Paralogs for FBXO4 Gene
No data available for Paralogs for FBXO4 Gene
Variants for FBXO4 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs2231917 | Esophagus cancer samples | 41,925,333(+) | C/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
| VAR_063501 | Esophagus cancer sample | p.Ser12Leu | |||
| VAR_063502 | Esophagus cancer sample | p.Pro13Ser | |||
| VAR_063503 | Esophagus cancer samples | p.Leu23Gln | |||
| VAR_063504 | Esophagus cancer samples | p.Pro76Thr |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1096e214 | CNV | gain | 21293372 |
| esv2762518 | CNV | loss | 21179565 |
| esv3604851 | CNV | gain | 21293372 |
| nsv830272 | CNV | gain | 17160897 |
| nsv830273 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
35% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.61;
45.18% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FBXO4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FBXO4
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO4 Gene
Disorders for FBXO4 Gene
Additional Disease Information for FBXO4
No disorders were found for FBXO4 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBXO4 Gene
Publications for FBXO4 Gene
- Structural basis of dimerization-dependent ubiquitination by the SCF(Fbx4) ubiquitin ligase. (PMID: 20181953) Li Y … Hao B (The Journal of biological chemistry 2010) 3 4 22 58
- Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C … Pagano M (Current biology : CB 1999) 2 3 4 58
- A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 4 58
- Structural basis of selective ubiquitination of TRF1 by SCFFbx4. (PMID: 20159592) Zeng Z … Lei M (Developmental cell 2010) 3 4 58
- Mutations in Fbx4 inhibit dimerization of the SCF(Fbx4) ligase and contribute to cyclin D1 overexpression in human cancer. (PMID: 18598945) Barbash O … Diehl JA (Cancer cell 2008) 3 4 58
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Sources for FBXO4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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