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-... See more...

Aliases for FBXL5 Gene

Aliases for FBXL5 Gene

  • F-Box And Leucine Rich Repeat Protein 5 2 3 5
  • FBL4 2 3 4
  • FBL5 2 3 4
  • FLR1 2 3 4
  • F-Box/LRR-Repeat Protein 5 3 4
  • F-Box Protein FBL4/FBL5 3 4
  • P45SKP2-Like Protein 3 4
  • F-Box And Leucine-Rich Repeat Protein 5 4
  • FBXL5 5

External Ids for FBXL5 Gene

Previous GeneCards Identifiers for FBXL5 Gene

  • GC04M015421
  • GC04M015548
  • GC04M015294
  • GC04M015357
  • GC04M015282
  • GC04M014956

Summaries for FBXL5 Gene

Entrez Gene Summary for FBXL5 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 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 Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]

GeneCards Summary for FBXL5 Gene

FBXL5 (F-Box And Leucine Rich Repeat Protein 5) is a Protein Coding gene. Diseases associated with FBXL5 include Spastic Paraplegia 38, Autosomal Dominant and Familial Expansile Osteolysis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Chaperonin-mediated protein folding. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and iron ion binding. An important paralog of this gene is SKP2.

UniProtKB/Swiss-Prot Summary for FBXL5 Gene

  • Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued.

Gene Wiki entry for FBXL5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXL5 Gene

Genomics for FBXL5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXL5 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 FBXL5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXL5

Top Transcription factor binding sites by QIAGEN in the FBXL5 gene promoter:
  • AhR
  • AP-4
  • ATF
  • ATF6
  • CREB
  • deltaCREB
  • LUN-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for FBXL5 Gene

Latest Assembly
chr4:15,604,381-15,681,679
(GRCh38/hg38)
Size:
77,299 bases
Orientation:
Minus strand

Previous Assembly
chr4:15,606,004-15,656,980
(GRCh37/hg19 by Entrez Gene)
Size:
50,977 bases
Orientation:
Minus strand

chr4:15,606,162-15,683,302
(GRCh37/hg19 by Ensembl)
Size:
77,141 bases
Orientation:
Minus strand

Genomic View for FBXL5 Gene

Genes around FBXL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL5 Gene

Proteins for FBXL5 Gene

  • Protein details for FBXL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKA1-FBXL5_HUMAN
    Recommended name:
    F-box/LRR-repeat protein 5
    Protein Accession:
    Q9UKA1
    Secondary Accessions:
    • A8MSK4
    • B4DIB5
    • Q4W5A8
    • Q8NHP3
    • Q9NXN2
    • Q9P0I0
    • Q9P0X5
    • Q9UJT7
    • Q9UKC8

    Protein attributes for FBXL5 Gene

    Size:
    691 amino acids
    Molecular mass:
    78555 Da
    Quaternary structure:
    • Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with ACO1/IRP1, IREB2/IRP2; the interaction depends on the 4Fe-4S cluster. Interacts with DCTN1/p150-glued.
    SequenceCaution:
    • Sequence=AAF66616.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF67489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH30656.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW92737.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXL5 Gene

    Alternative splice isoforms for FBXL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXL5 Gene

Post-translational modifications for FBXL5 Gene

  • Polybiquitinated upon iron and oxygen depletion, leading to its degradation by the proteasome. Ubiquitination is regulated by the hemerythrin-like region that acts as an oxygen and iron sensor.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FBXL5 Gene

Domains & Families for FBXL5 Gene

Gene Families for FBXL5 Gene

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

Protein Domains for FBXL5 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Leucine-rich repeat 2
  • Hemerythrin

Suggested Antigen Peptide Sequences for FBXL5 Gene

GenScript: Design optimal peptide antigens:
  • p45SKP2-like protein (FBXL5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKA1

UniProtKB/Swiss-Prot:

FBXL5_HUMAN :
  • The hemerythrin-like region acts as an oxygen and iron sensor by binding oxygen through a diiron metal-center. In absence of oxygen and iron, the protein is ubiquitinated and degraded.
Domain:
  • The hemerythrin-like region acts as an oxygen and iron sensor by binding oxygen through a diiron metal-center. In absence of oxygen and iron, the protein is ubiquitinated and degraded.
genes like me logo Genes that share domains with FBXL5: view

Function for FBXL5 Gene

Molecular function for FBXL5 Gene

UniProtKB/Swiss-Prot Function:
Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued.

Phenotypes From GWAS Catalog for FBXL5 Gene

Gene Ontology (GO) - Molecular Function for FBXL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity NAS 10531035
GO:0005506 iron ion binding IDA 19762596
GO:0005515 protein binding IEA,IPI 17532294
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FBXL5: view
genes like me logo Genes that share phenotypes with FBXL5: view

Animal Models for FBXL5 Gene

MGI Knock Outs for FBXL5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL5

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXL5 Gene

Localization for FBXL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXL5 Gene

Cytoplasm, perinuclear region.

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 FBXL5 gene
Compartment Confidence
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FBXL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 10531035
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IBA,IDA 19762596
GO:0048471 perinuclear region of cytoplasm IEA,IDA 17532294
genes like me logo Genes that share ontologies with FBXL5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FBXL5 Gene

Pathways & Interactions for FBXL5 Gene

genes like me logo Genes that share pathways with FBXL5: view

UniProtKB/Swiss-Prot Q9UKA1-FBXL5_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0016567 protein ubiquitination NAS 10531035
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA 17532294
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXL5: view

No data available for SIGNOR curated interactions for FBXL5 Gene

Drugs & Compounds for FBXL5 Gene

No Compound Related Data Available

Transcripts for FBXL5 Gene

mRNA/cDNA for FBXL5 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL5

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - -
SP7:

Relevant External Links for FBXL5 Gene

GeneLoc Exon Structure for
FBXL5

Expression for FBXL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXL5 Gene

mRNA differential expression in normal tissues according to GTEx for FBXL5 Gene

This gene is overexpressed in Whole Blood (x7.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXL5

SOURCE GeneReport for Unigene cluster for FBXL5 Gene:

Hs.643433

Evidence on tissue expression from TISSUES for FBXL5 Gene

  • Nervous system(4.9)
  • Intestine(4.5)
  • Adrenal gland(4.3)
  • Kidney(2.6)
  • Blood(2.6)
  • Liver(2.5)
  • Bone marrow(2.5)
  • Heart(2.4)
  • Spleen(2.3)
  • Lung(2.3)
  • Muscle(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with FBXL5: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL5 Gene

Orthologs for FBXL5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXL5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBXL5 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FBXL5 29 30
  • 94.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXL5 29 30
  • 92.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fbxl5 29 16 30
  • 90.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbxl5 29
  • 90.11 (n)
Oppossum
(Monodelphis domestica)
Mammalia FBXL5 30
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FBXL5 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBXL5 29 30
  • 80.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBXL5 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fbxl5 29
  • 69.14 (n)
Str.19634 29
African clawed frog
(Xenopus laevis)
Amphibia fbxl5-prov 29
Zebrafish
(Danio rerio)
Actinopterygii fbxl5 29 30
  • 59.85 (n)
OneToOne
wufb52d06 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7300 29
Species where no ortholog for FBXL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 FBXL5 Gene

ENSEMBL:
Gene Tree for FBXL5 (if available)
TreeFam:
Gene Tree for FBXL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXL5: view image
Alliance of Genome Resources:
Additional Orthologs for FBXL5

Paralogs for FBXL5 Gene

Pseudogenes.org Pseudogenes for FBXL5 Gene

genes like me logo Genes that share paralogs with FBXL5: view

Variants for FBXL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXL5 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs864622020 Uncertain Significance: Malignant tumor of prostate 15,625,447(-) CA/C
NM_012161.4(FBXL5):c.1654del (p.Cys552fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXL5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FBXL5 Gene

Variant ID Type Subtype PubMed ID
dgv315n21 CNV loss 19592680
esv1293360 CNV insertion 17803354
esv26392 CNV gain 19812545
esv2759227 CNV gain+loss 17122850
esv27769 CNV gain 19812545
nsv292453 CNV deletion 16902084
nsv428439 CNV gain+loss 18775914
nsv949802 CNV duplication 24416366

Variation tolerance for FBXL5 Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL5
Leiden Open Variation Database (LOVD)
FBXL5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL5 Gene

Disorders for FBXL5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FBXL5 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search FBXL5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBXL5

genes like me logo Genes that share disorders with FBXL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXL5 Gene

Publications for FBXL5 Gene

  1. FBXL5 interacts with p150Glued and regulates its ubiquitination. (PMID: 17532294) Zhang N … Yao X (Biochemical and biophysical research communications 2007) 3 4 22
  2. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C … Pagano M (Current biology : CB 1999) 2 3 4
  3. Structural and molecular characterization of iron-sensing hemerythrin-like domain within F-box and leucine-rich repeat protein 5 (FBXL5). (PMID: 22253436) Thompson JW … Bruick RK (The Journal of biological chemistry 2012) 3 4
  4. An E3 ligase possessing an iron-responsive hemerythrin domain is a regulator of iron homeostasis. (PMID: 19762597) Salahudeen AA … Bruick RK (Science (New York, N.Y.) 2009) 3 4
  5. Control of iron homeostasis by an iron-regulated ubiquitin ligase. (PMID: 19762596) Vashisht AA … Wohlschlegel JA (Science (New York, N.Y.) 2009) 3 4

Products for FBXL5 Gene

Sources for FBXL5 Gene