Aliases for FBXL4 Gene
Aliases for FBXL4 Gene
External Ids for FBXL4 Gene
- HGNC: 13601
- Entrez Gene: 26235
- Ensembl: ENSG00000112234
- OMIM: 605654
- UniProtKB: Q9UKA2
Previous GeneCards Identifiers for FBXL4 Gene
- GC06M099190
- GC06M099338
- GC06M099367
- GC06M099428
- GC06M096760
- GC06M099316
Summaries for FBXL4 Gene
-
This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for FBXL4 Gene
FBXL4 (F-Box And Leucine Rich Repeat Protein 4) is a Protein Coding gene. Diseases associated with FBXL4 include Mitochondrial Dna Depletion Syndrome 13 and Fbxl4-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is FBXL20.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXL4 Gene
Genomics for FBXL4 Gene
Regulatory Elements for FBXL4 Gene
Enhancers for FBXL4 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 |
|---|---|---|---|---|---|---|---|---|
| GH06G099566 | 1.2 | ENCODE | 18 | -620.1 | -620062 | 2.6 | MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 | RPS3P5 LOC101927365 USP45 FBXL4 TSTD3 ENSG00000272017 ENSG00000274603 |
| GH06G098976 | 2.1 | VISTA | 5.1 | -29.9 | -29904 | 2.1 | HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 | FBXL4 GC06P099064 |
| GH06G098039 | 2 | ENCODE dbSUPER | 5.2 | +907.0 | 907024 | 3.2 | CTCF ZNF654 TEAD4 CHD7 RAD21 ETS1 ZNF316 JUND POLR2A SMARCA4 | FBXL4 MIR2113 GC06M098179 |
| GH06G098576 | 0.9 | ENCODE dbSUPER | 9.7 | +369.4 | 369420 | 4.8 | CEBPZ CBX3 ZBTB7B CBX5 SMARCA4 ZNF610 ZNF547 ZNF350 MAFK TRIM28 | LOC101927365 FBXL4 GC06P098589 LOC105377910 |
| GH06G098043 | 1.8 | VISTA | 4.8 | +903.3 | 903349 | 1.4 | MXI1 SMARCA4 ZIC2 MAFK EP300 | FBXL4 MIR2113 GC06M098179 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXL4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for FBXL4 Gene
- Chromosome:
- 6
- Start:
- 98,868,538 bp from pter
- End:
- 98,948,006 bp from pter
- Size:
- 79,469 bases
- Orientation:
- Minus strand
Genomic View for FBXL4 Gene
Genes around FBXL4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q16.2 by Ensembl
- 6q16.1-q16.2 by Entrez Gene
- 6q16.1-q16.2 by HGNC
FBXL4 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 FBXL4 Gene
Proteins for FBXL4 Gene
-
Protein details for FBXL4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UKA2-FBXL4_HUMAN
- Recommended name:
- F-box/LRR-repeat protein 4
- Protein Accession:
- Q9UKA2
- B2R7Q5
- E1P530
- O95919
- Q5BJH0
- Q9UJU0
Protein attributes for FBXL4 Gene
- Size:
- 621 amino acids
- Molecular mass:
- 70097 Da
- Quaternary structure:
-
- Part of a SCF (SKP1-cullin-F-box) protein ligase complex.
Protein Expression for FBXL4 Gene
Post-translational modifications for FBXL4 Gene
Other Protein References for FBXL4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FBXL4
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- GeneTex FBXL4 antibody for FBXL4
- GeneTex Ecm1 antibody for FBXL4
-
Santa Cruz Biotechnology (SCBT) Antibodies for FBXL4
Protein Products
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OriGene Purified Proteins for FBXL4
- Search Origene for MassSpec and Protein Over-expression Lysates for FBXL4
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- antibodies-online Proteins for FBXL4: See all 6
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- Search GeneTex for Proteins for FBXL4
Assay Products
- antibodies-online Kits for FBXL4: See all 21
No data available for DME Specific Peptides for FBXL4 Gene
Domains & Families for FBXL4 Gene
Gene Families for FBXL4 Gene
Protein Domains for FBXL4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXL4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXL4 Gene
Function for FBXL4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | -- |
Phenotypes for FBXL4 Gene
- GenomeRNAi human phenotypes for FBXL4:
Animal Model Products
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-
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CRISPR Products
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miRNA for FBXL4 Gene
- miRTarBase miRNAs that target FBXL4
-
- hsa-mir-218-5p (MIRT440664)
- hsa-mir-4439 (MIRT619229)
- hsa-mir-3136-5p (MIRT619230)
- hsa-mir-573 (MIRT619231)
- hsa-mir-3616-5p (MIRT619232)
- hsa-mir-4474-5p (MIRT619233)
- hsa-mir-5189-3p (MIRT619234)
- hsa-mir-6857-3p (MIRT619235)
- hsa-mir-6855-3p (MIRT619236)
- hsa-mir-4513 (MIRT619237)
- hsa-mir-4795-5p (MIRT619238)
miRNA Products
- Search ViGene Biosciences for FBXL4
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Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXL4 Gene
Localization for FBXL4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBXL4 Gene
- Cytoplasm. Nucleus. Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000151 | ubiquitin ligase complex | TAS | 10531035 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005758 | mitochondrial intermembrane space | IDA | 23993194 |
Pathways & Interactions for FBXL4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for FBXL4 Gene
4 Reactome pathways for FBXL4 Gene
Interacting Proteins for FBXL4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | TAS | -- |
| GO:0006511 | ubiquitin-dependent protein catabolic process | TAS | 10531035 |
| GO:0043687 | post-translational protein modification | TAS | -- |
No data available for SIGNOR curated interactions for FBXL4 Gene
Transcripts for FBXL4 Gene
mRNA/cDNA for FBXL4 Gene
- (7) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (125) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FBXL4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FBXL4
-
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miRNA Products
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Inhibitory RNA Products
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-
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | - |
Expression for FBXL4 Gene
This gene is overexpressed in Serum (68.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXL4 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXL4 Gene:
FBXL4SOURCE GeneReport for Unigene cluster for FBXL4 Gene:
Hs.536850mRNA Expression by UniProt/SwissProt for FBXL4 Gene:
Q9UKA2-FBXL4_HUMAN
Tissue specificity:
Expressed in heart, kidney, liver, lung, pancreas, and placenta, but not in skeletal muscle.
Evidence on tissue expression from TISSUES for FBXL4 Gene
- Nervous system(4.3)
- Eye(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cheek
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- pharynx
- skull
Thorax:
- esophagus
Abdomen:
- stomach
Pelvis:
- penis
- urethra
General:
- hair
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for FBXL4
-
OriGene qPCR primer pairs and template standards for FBXL4
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FBXL4 Gene
Orthologs for FBXL4 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXL4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXL4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXL4 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxl4 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXL4 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fbxl4 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXL4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXL4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXL4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100490265 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fbxl4 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Fbxl4 34 35 |
|
||
| CG1839 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000471 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GRR1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3673 35 |
|
OneToOne |
- Species where no ortholog for FBXL4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- 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)
Paralogs for FBXL4 Gene
Variants for FBXL4 Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs201989042 | Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] | 98,874,354(+) | CAATC(G/T)GCGAA | nc-transcript-variant, reference, missense | |
| rs398123060 | Pathogenic, Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] | 98,874,441(-) | AATAG(C/G)AACAA | nc-transcript-variant, reference, missense | |
| rs398123061 | Pathogenic, Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] | 98,875,673(-) | AACTC(C/T)GGACC | nc-transcript-variant, reference, missense | |
| rs398123062 | Pathogenic, Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] | 98,875,423(-) | GCTGG(A/G)CATAT | nc-transcript-variant, reference, missense | |
| rs772037717 | Likely pathogenic, Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471] | 98,875,675(+) | TCCGG(A/G)GTTTT | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv26393 | CNV | loss | 19812545 |
| esv2659264 | CNV | deletion | 23128226 |
| esv2732468 | CNV | deletion | 23290073 |
| esv3610113 | CNV | loss | 21293372 |
| esv3610114 | CNV | loss | 21293372 |
| nsv1029536 | CNV | loss | 25217958 |
| nsv474745 | CNV | novel sequence insertion | 20440878 |
| nsv604253 | CNV | gain | 21841781 |
| nsv823788 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.58;
44.77% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBXL4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL4 Gene
Disorders for FBXL4 Gene
(6) MalaCards diseases for FBXL4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial dna depletion syndrome 13 |
|
|
| fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form |
|
|
| fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome |
|
|
| mitochondrial encephalomyopathy |
|
|
| mitochondrial dna depletion syndrome, encephalomyopathic form |
|
|
Search FBXL4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FBXL4_HUMAN- Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]: An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content. {ECO:0000269 PubMed:23993193, ECO:0000269 PubMed:23993194, ECO:0000269 PubMed:27182039}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for FBXL4
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FBXL4
No data available for Genatlas for FBXL4 Gene
Publications for FBXL4 Gene
- Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4 64
- A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. (PMID: 27182039) Baroey T. … Misceo D. (Eur. J. Med. Genet. 2016) 3 4 64
- Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. (PMID: 23993193) Bonnen P.E. … Taylor R.W. (Am. J. Hum. Genet. 2013) 3 4 64
- Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (PMID: 23993194) Gai X. … Zeviani M. (Am. J. Hum. Genet. 2013) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
Products for FBXL4 Gene
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- antibodies-online Antibodies for FBXL4: See all 35
- antibodies-online Kits for FBXL4: See all 21
- antibodies-online Proteins for FBXL4: See all 6
- Search antibodies-online for peptides
- GeneTex Ecm1 antibody for FBXL4
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- ViGene Biosciences adenoviral particle packaged cDNA for FBXL4 gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBXL4 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
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