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Aliases for FBXL4 Gene

Aliases for FBXL4 Gene

  • F-Box And Leucine-Rich Repeat Protein 4 2 3 4
  • FBL4 3 4 6
  • MTDPS13 3 6
  • FBL5 3 4
  • F-Box/LRR-Repeat Protein 4 3
  • F-Box Protein FBL4/FBL5 4

External Ids for FBXL4 Gene

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 mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies. An important paralog of this gene is FBXL16.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXL4 Gene

Genomics for FBXL4 Gene

Genomic Location for FBXL4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBXL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL4 Gene

Regulatory Elements 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

Proteomics data for FBXL4 Gene at MOPED

Post-translational modifications for FBXL4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys115 and Lys537

Other Protein References for FBXL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FBXL4 Gene

Domains for FBXL4 Gene

Gene Families for FBXL4 Gene

HGNC:
  • FBXL :F-boxes / Leucine-rich repeats

Suggested Antigen Peptide Sequences for FBXL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKA2

UniProtKB/Swiss-Prot:

FBXL4_HUMAN
Domain:
  • Contains 1 F-box domain.:
    • Q9UKA2
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.:
    • Q9UKA2
genes like me logo Genes that share domains with FBXL4: view

Function for FBXL4 Gene

Gene Ontology (GO) - Molecular Function for FBXL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with FBXL4: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for FBXL4 Gene COMPARTMENTS Subcellular localization image for FBXL4 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
extracellular 1
lysosome 1
plasma membrane 1

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 --
GO:0005654 nucleoplasm IDA --
GO:0005758 mitochondrial intermembrane space IDA 23993194
genes like me logo Genes that share ontologies with FBXL4: view

Pathways for FBXL4 Gene

SuperPathways for FBXL4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FBXL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process TAS 10531035
genes like me logo Genes that share ontologies with FBXL4: view

No data available for Pathways by source for FBXL4 Gene

Transcripts for FBXL4 Gene

Unigene Clusters for FBXL4 Gene

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

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 for FBXL4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBXL4 Gene

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.
genes like me logo Genes that share expressions with FBXL4: view

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 35
  • 99.14 (n)
  • 98.55 (a)
FBXL4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBXL4 35
  • 91.04 (n)
  • 92.59 (a)
FBXL4 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXL4 35
  • 93.13 (n)
  • 95.33 (a)
FBXL4 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxl4 35
  • 88.46 (n)
  • 93.4 (a)
Fbxl4 16
Fbxl4 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXL4 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXL4 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxl4 35
  • 89.39 (n)
  • 91.26 (a)
chicken
(Gallus gallus)
Aves FBXL4 35
  • 81.29 (n)
  • 86.61 (a)
FBXL4 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXL4 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490265 35
  • 72.44 (n)
  • 76.54 (a)
zebrafish
(Danio rerio)
Actinopterygii fbxl4 35
  • 64.9 (n)
  • 68.6 (a)
fbxl4 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000471 35
  • 39.79 (n)
  • 30.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta Fbxl4 35
  • 44.22 (n)
  • 35.62 (a)
Fbxl4 36
  • 30 (a)
OneToOne
CG1839 37
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GRR1 36
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3673 36
  • 37 (a)
OneToOne
Species with no ortholog for FBXL4:
  • 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 MAF
rs1392 -- 98,924,923(+) GAGAG(C/T)GGGAA intron-variant
rs169024 -- 98,946,841(+) GAGCG(C/T)TGATG intron-variant
rs171894 -- 98,935,248(-) CTTCA(A/G)TTCCT intron-variant
rs174446 -- 98,940,041(-) cagtt(C/G)agaga intron-variant
rs182012 -- 98,879,898(-) CGGCG(C/T)GATCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2732468 CNV Deletion 23290073
esv26393 CNV Loss 19812545
esv2659264 CNV Deletion 23128226
nsv823788 CNV Loss 20364138

Relevant External Links for FBXL4 Gene

HapMap Linkage Disequilibrium report
FBXL4
Human Gene Mutation Database (HGMD)
FBXL4

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

Disorders for FBXL4 Gene

(1) OMIM Diseases for FBXL4 Gene (605654)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with FBXL4: view

Publications for FBXL4 Gene

  1. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C. … Pagano M. (Curr. Biol. 1999) 2 3 4
  2. A family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 3 4
  3. cDNA cloning and expression analysis of new members of the mammalian F-box protein family. (PMID: 10945468) Ilyin G.P. … Guguen-Guillouzo C. (Genomics 2000) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for FBXL4 Gene

Sources for FBXL4 Gene

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