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Aliases for FBXL4 Gene

Aliases for FBXL4 Gene

  • F-Box And Leucine Rich Repeat Protein 4 2 3 5
  • FBL4 3 4
  • FBL5 3 4
  • F-Box And Leucine-Rich Repeat Protein 4 4
  • F-Box/LRR-Repeat Protein 4 3
  • F-Box Protein FBL4/FBL5 4
  • MTDPS13 3

External Ids for FBXL4 Gene

Previous GeneCards Identifiers for FBXL4 Gene

  • GC06M099190
  • GC06M099338
  • GC06M099367
  • GC06M099428
  • GC06M096760
  • GC06M099316

Summaries for FBXL4 Gene

Entrez Gene Summary 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 Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is FBXL13.

Additional gene information for FBXL4 Gene

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
GH06H099566 1.2 ENCODE 18 -620.1 -620062 2 MLX DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 ZNF610 ZNF585B LOC101927365 RPS3P5 PNISR USP45 FBXL4 MCHR2-AS1 NPM1P38 PRDX2P4 LOC102724406 TSTD3
GH06H099393 1.1 ENCODE 13.9 -446.0 -445969 1 ARNT DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 DEK SP3 REST LOC101927365 RPS3P5 FBXL4 TSTD3 PNISR COQ3 FAXC
GH06H098039 1.9 ENCODE dbSUPER 5.2 +907.0 907024 3 CTCF ZNF654 RAD21 ETS1 ZNF316 POLR2A SCRT2 SMC3 POU5F1 RCOR1 FBXL4 MIR2113 GC06M098179
GH06H098043 1.7 VISTA 4.8 +903.3 903349 1 MXI1 POLR2A ZIC2 FBXL4 MIR2113 GC06M098179
GH06H098976 1.5 VISTA 5.1 -29.9 -29904 2 SOX13 POLR2A HLF NFE2 FBXL4 GC06P099064
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXL4 on UCSC Golden Path with GeneCards custom track

Promoters for FBXL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200213 406 2000 FOXA2 MLX ARNT ARID4B SIN3A GLIS2 ELK1 ZNF143 KLF7 RUNX3

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:
FBXL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

neXtProt entry for FBXL4 Gene

Post-translational modifications for FBXL4 Gene

  • Ubiquitination at posLast=115115 and posLast=537537
  • Modification sites at PhosphoSitePlus

Other Protein References for FBXL4 Gene

No data available for DME Specific Peptides for FBXL4 Gene

Domains & Families for FBXL4 Gene

Gene Families for FBXL4 Gene

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

Suggested Antigen Peptide Sequences for FBXL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXL4: view

No data available for UniProtKB/Swiss-Prot for FBXL4 Gene

Function for FBXL4 Gene

Gene Ontology (GO) - Molecular Function for FBXL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
genes like me logo Genes that share ontologies with FBXL4: view
genes like me logo Genes that share phenotypes with FBXL4: view

Human Phenotype Ontology for FBXL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FBXL4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.

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 FBXL4 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXL4 Gene

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
genes like me logo Genes that share ontologies with FBXL4: view

Pathways & Interactions for FBXL4 Gene

genes like me logo Genes that share pathways with FBXL4: view

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with FBXL4: view

No data available for SIGNOR curated interactions for FBXL4 Gene

Drugs & Compounds for FBXL4 Gene

No Compound Related Data Available

Transcripts for FBXL4 Gene

Unigene Clusters for FBXL4 Gene

F-box and leucine-rich repeat protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FBXL4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: -

Relevant External Links for FBXL4 Gene

GeneLoc Exon Structure for
FBXL4
ECgene alternative splicing isoforms for
FBXL4

Expression for FBXL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXL4 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for FBXL4 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXL4 Gene:

FBXL4

SOURCE GeneReport for Unigene cluster for FBXL4 Gene:

Hs.536850

mRNA 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
genes like me logo Genes that share expression patterns with FBXL4: view

Primer Products

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.

Orthologs for FBXL4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXL4 33 34
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia FBXL4 33 34
  • 93.13 (n)
cow
(Bos Taurus)
Mammalia FBXL4 33 34
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Fbxl4 33
  • 89.39 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXL4 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxl4 33 16 34
  • 88.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXL4 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXL4 33 34
  • 81.29 (n)
lizard
(Anolis carolinensis)
Reptilia FBXL4 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490265 33
  • 72.44 (n)
zebrafish
(Danio rerio)
Actinopterygii fbxl4 33 34
  • 64.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta Fbxl4 33 34
  • 44.22 (n)
CG1839 35
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000471 33
  • 39.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GRR1 34
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3673 34
  • 37 (a)
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)

Evolution for FBXL4 Gene

ENSEMBL:
Gene Tree for FBXL4 (if available)
TreeFam:
Gene Tree for FBXL4 (if available)

Paralogs for FBXL4 Gene

Paralogs for FBXL4 Gene

genes like me logo Genes that share paralogs with FBXL4: view

Variants for FBXL4 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for FBXL4 Gene

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

Variation tolerance for FBXL4 Gene

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

Human Gene Mutation Database (HGMD)
FBXL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL4 Gene

Disorders for FBXL4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FBXL4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 13
  • mtdps13
fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form
  • mitochondrial dna depletion syndrome 13
fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome
  • mitochondrial dna depletion syndrome 13
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with FBXL4: view

No data available for Genatlas for FBXL4 Gene

Publications for FBXL4 Gene

  1. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C … Pagano M (Current biology : CB 1999) 2 3 4 60
  2. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. (PMID: 27182039) Barøy T … Misceo D (European journal of medical genetics 2016) 3 4 60
  3. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (PMID: 23993194) Gai X … Zeviani M (American journal of human genetics 2013) 3 4 60
  4. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. (PMID: 23993193) Bonnen PE … Taylor RW (American journal of human genetics 2013) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for FBXL4 Gene

Sources for FBXL4 Gene

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