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... See more...

Aliases for FBXO32 Gene

Aliases for FBXO32 Gene

  • F-Box Protein 32 2 3 5
  • F-Box Only Protein 32 2 3 4
  • MAFbx 2 3 4
  • Muscle Atrophy F-Box Protein 3 4
  • Fbx32 2 3
  • Atrogin 1 3
  • Atrogin-1 4
  • ATROGIN1 2
  • FBXO32 5

External Ids for FBXO32 Gene

Previous GeneCards Identifiers for FBXO32 Gene

  • GC08M123657
  • GC08M124573
  • GC08M124184
  • GC08M124471
  • GC08M124584
  • GC08M119840
  • GC08M124510

Summaries for FBXO32 Gene

Entrez Gene Summary for FBXO32 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 and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

GeneCards Summary for FBXO32 Gene

FBXO32 (F-Box Protein 32) is a Protein Coding gene. Diseases associated with FBXO32 include Muscle Hypertrophy and Uremia. Among its related pathways are Class I MHC mediated antigen processing and presentation and FoxO signaling pathway. An important paralog of this gene is FBXO25.

UniProtKB/Swiss-Prot Summary for FBXO32 Gene

  • Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1.

Gene Wiki entry for FBXO32 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXO32 Gene

Genomics for FBXO32 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXO32 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 FBXO32 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXO32

Top Transcription factor binding sites by QIAGEN in the FBXO32 gene promoter:
  • CUTL1
  • FOXO1
  • FOXO1a

Genomic Locations for FBXO32 Gene

Latest Assembly
chr8:123,497,889-123,541,206
(GRCh38/hg38)
Size:
43,318 bases
Orientation:
Minus strand

Previous Assembly
chr8:124,510,129-124,553,446
(GRCh37/hg19 by Entrez Gene)
Size:
43,318 bases
Orientation:
Minus strand

chr8:124,510,129-124,553,446
(GRCh37/hg19 by Ensembl)
Size:
43,318 bases
Orientation:
Minus strand

Genomic View for FBXO32 Gene

Genes around FBXO32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO32 Gene

Proteins for FBXO32 Gene

  • Protein details for FBXO32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969P5-FBX32_HUMAN
    Recommended name:
    F-box only protein 32
    Protein Accession:
    Q969P5
    Secondary Accessions:
    • A4KYM0

    Protein attributes for FBXO32 Gene

    Size:
    355 amino acids
    Molecular mass:
    41637 Da
    Quaternary structure:
    • Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO32) formed of CUL1, SKP1, RBX1 and FBXO32.

    Alternative splice isoforms for FBXO32 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO32 Gene

Post-translational modifications for FBXO32 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO32 Gene

Antibodies for research

  • Abcam antibodies for FBXO32
  • Boster Bio Antibodies for FBXO32
  • Santa Cruz Biotechnology (SCBT) Antibodies for FBXO32

No data available for DME Specific Peptides for FBXO32 Gene

Domains & Families for FBXO32 Gene

Gene Families for FBXO32 Gene

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

Protein Domains for FBXO32 Gene

Suggested Antigen Peptide Sequences for FBXO32 Gene

GenScript: Design optimal peptide antigens:
  • Muscle atrophy F-box protein (FBX32_HUMAN)
  • F-box protein 32 (Q0VAQ6_HUMAN)
  • FBXO32 protein (Q498Y9_HUMAN)
genes like me logo Genes that share domains with FBXO32: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBXO32 Gene

Function for FBXO32 Gene

Molecular function for FBXO32 Gene

UniProtKB/Swiss-Prot Function:
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1.

Phenotypes From GWAS Catalog for FBXO32 Gene

Gene Ontology (GO) - Molecular Function for FBXO32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18354498
genes like me logo Genes that share ontologies with FBXO32: view
genes like me logo Genes that share phenotypes with FBXO32: view

Animal Models for FBXO32 Gene

MGI Knock Outs for FBXO32:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO32

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO32 Gene

Localization for FBXO32 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO32 Gene

Cytoplasm. Nucleus. Note=Shuttles between cytoplasm and the nucleus.

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 FBXO32 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXO32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 26768247
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IDA 26753747
genes like me logo Genes that share ontologies with FBXO32: view

Pathways & Interactions for FBXO32 Gene

genes like me logo Genes that share pathways with FBXO32: view

UniProtKB/Swiss-Prot Q969P5-FBX32_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for FBXO32 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FBXO32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0014894 response to denervation involved in regulation of muscle adaptation ISS --
GO:0016567 protein ubiquitination IEA,IDA 26753747
GO:0043687 post-translational protein modification TAS --
GO:0071549 cellular response to dexamethasone stimulus IEA --
genes like me logo Genes that share ontologies with FBXO32: view

Drugs & Compounds for FBXO32 Gene

(2) Drugs for FBXO32 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FBXO32 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBXO32: view

Transcripts for FBXO32 Gene

mRNA/cDNA for FBXO32 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 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 FBXO32

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO32 Gene

No ASD Table

Relevant External Links for FBXO32 Gene

GeneLoc Exon Structure for
FBXO32

Expression for FBXO32 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXO32 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBXO32 Gene

This gene is overexpressed in Muscle - Skeletal (x17.6).

Protein differential expression in normal tissues from HIPED for FBXO32 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FBXO32 Gene



Protein tissue co-expression partners for FBXO32 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXO32

SOURCE GeneReport for Unigene cluster for FBXO32 Gene:

Hs.403933

mRNA Expression by UniProt/SwissProt for FBXO32 Gene:

Q969P5-FBX32_HUMAN
Tissue specificity: Specifically expressed in cardiac and skeletal muscle.

Evidence on tissue expression from TISSUES for FBXO32 Gene

  • Muscle(4.8)
  • Nervous system(4)
  • Heart(3.2)
  • Intestine(2.9)
  • Skin(2.6)
  • Thyroid gland(2.2)
  • Lung(2.2)
  • Liver(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with FBXO32: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO32 Gene

Orthologs for FBXO32 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBXO32 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBXO32 29 30
  • 99.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FBXO32 30
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FBXO32 29 30
  • 93.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXO32 29 30
  • 93.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fbxo32 29 16 30
  • 91.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbxo32 29
  • 90.95 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FBXO32 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBXO32 29 30
  • 84.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBXO32 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fbxo32 29
  • 77.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii fbxo32 29 30
  • 72.03 (n)
OneToOne
zgc56479 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG11658 30
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mfb-1 30
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 29 (a)
OneToMany
Species where no ortholog for FBXO32 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for FBXO32 Gene

ENSEMBL:
Gene Tree for FBXO32 (if available)
TreeFam:
Gene Tree for FBXO32 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXO32: view image
Alliance of Genome Resources:
Additional Orthologs for FBXO32

Paralogs for FBXO32 Gene

Paralogs for FBXO32 Gene

(1) SIMAP similar genes for FBXO32 Gene using alignment to 4 proteins:

  • FBX32_HUMAN
  • I6L984_HUMAN
  • Q0VAQ6_HUMAN
  • Q498Y9_HUMAN
genes like me logo Genes that share paralogs with FBXO32: view

Variants for FBXO32 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXO32 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs140223880 Likely Benign: not provided 123,506,446(-) G/A
NM_058229.4(FBXO32):c.780C>T (p.Ser260=)
SYNONYMOUS
rs143618195 Benign: not provided 123,504,643(-) G/T
NM_058229.4(FBXO32):c.939C>A (p.Thr313=)
SYNONYMOUS
rs34225633 Benign: not provided 123,506,455(-) G/A
NM_058229.4(FBXO32):c.771C>T (p.His257=)
SYNONYMOUS
rs3892087 Benign: not provided 123,513,306(-) G/A
NM_058229.4(FBXO32):c.543C>T (p.Val181=)
SYNONYMOUS_VARIANT,INTRON
rs11786471 -- p.Gly89Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXO32 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 FBXO32 Gene

Variant ID Type Subtype PubMed ID
nsv831450 CNV gain 17160897

Variation tolerance for FBXO32 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXO32 Gene

Human Gene Mutation Database (HGMD)
FBXO32
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO32
Leiden Open Variation Database (LOVD)
FBXO32

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO32 Gene

Disorders for FBXO32 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FBXO32 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
muscle hypertrophy
  • mslhp
uremia
  • uremia of renal origin
muscle tissue disease
dilated cardiomyopathy
  • congestive cardiomyopathy
acquired immunodeficiency syndrome
  • acquired immune deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FBX32_HUMAN
  • Note=Defects in FBXO32 are associated with susceptibility to dilated cardiomyopathy (DCM). A disorder characterized by ventricular and impaired systolic function, resulting in heart failure and arrhythmia. Patient are at risk of premature death. {ECO:0000269 PubMed:26753747, ECO:0000269 PubMed:26768247}.

Additional Disease Information for FBXO32

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FBXO32: view

No data available for Genatlas for FBXO32 Gene

Publications for FBXO32 Gene

  1. Degradation of MyoD mediated by the SCF (MAFbx) ubiquitin ligase. (PMID: 15531760) Tintignac LA … Leibovitch SA (The Journal of biological chemistry 2005) 3 4 22
  2. Identification of ubiquitin ligases required for skeletal muscle atrophy. (PMID: 11679633) Bodine SC … Glass DJ (Science (New York, N.Y.) 2001) 2 3 4
  3. A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy. (PMID: 26768247) Al-Hassnan ZN … Alburaiki J (BMC medical genetics 2016) 3 4
  4. FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy. (PMID: 26753747) Al-Yacoub N … Poizat C (Genome biology 2016) 3 4
  5. Identification of essential sequences for cellular localization in the muscle-specific ubiquitin E3 ligase MAFbx/Atrogin 1. (PMID: 22249105) Julie LC … Leibovitch SA (FEBS letters 2012) 3 4

Products for FBXO32 Gene

Sources for FBXO32 Gene