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Aliases for FBXO32 Gene

Aliases for FBXO32 Gene

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

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 Muscle Tissue Disease. Among its related pathways are Innate Immune System and FoxO family signaling. An important paralog of this gene is FBXO25.

UniProtKB/Swiss-Prot 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

Additional gene information for FBXO32 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO32 Gene

Genomics for FBXO32 Gene

GeneHancer (GH) Regulatory Elements for FBXO32 Gene

Promoters and enhancers for FBXO32 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I123534 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.7 +2.7 2688 9 PKNOX1 ARID4B SIN3A FEZF1 ZBTB7B GLIS2 ZNF213 SP3 MXD4 KAT8 FBXO32 LOC105375738 ANXA13 RNF139-AS1 ATAD2 WDYHV1 GC08M123523
GH08I123516 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +24.0 24045 2.4 PKNOX1 IRF4 ETS1 ZNF121 FOS ATF7 RUNX3 SP3 JUNB MEF2D FBXO32 KLHL38 LOC105375738 GC08M123523 GC08M123499
GH08I123512 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 17.7 +28.7 28655 0.8 HDAC1 ATF1 ZBTB40 TCF12 ZNF766 ETV6 ATF7 CREM CEBPB MEF2D FBXO32 LOC105375738 KLHL38 GC08M123499 GC08M123523
GH08I123513 Enhancer 1.1 ENCODE dbSUPER 19 +27.1 27124 1.4 HDAC1 PKNOX1 ZBTB40 CHAMP1 TCF12 ZNF766 SIRT6 RCOR1 ATF7 CREM FBXO32 KLHL38 LOC105375738 GC08M123499 GC08M123523
GH08I123616 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.3 -77.2 -77152 5 HDGF FOXA2 ARNT MLX ZFP64 ARID4B ZNF48 ZNF280A SLC30A9 CBX5 DERL1 FAM91A1 KLHL38 FBXO32 LOC105375738 GC08P123594
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO32 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO32 gene promoter:

Genomic Locations for FBXO32 Gene

Genomic Locations for FBXO32 Gene
chr8:123,497,887-123,541,253
(GRCh38/hg38)
Size:
43,367 bases
Orientation:
Minus strand
chr8:124,510,127-124,553,493
(GRCh37/hg19)

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

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBXO32 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0004842 ubiquitin-protein transferase activity TAS --
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 Model Products

Clone Products

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 2
mitochondrion 2
lysosome 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
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 IDA,IEA 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

Unigene Clusters for FBXO32 Gene

F-box protein 32:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for FBXO32 Gene

GeneLoc Exon Structure for
FBXO32
ECgene alternative splicing isoforms for
FBXO32

Expression for FBXO32 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for FBXO32 Gene



Protein tissue co-expression partners for FBXO32 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBXO32 Gene:

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(3.8)
  • Heart(2.8)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with FBXO32: view

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 33 34
  • 99.34 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO32 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO32 33 34
  • 93.99 (n)
cow
(Bos Taurus)
Mammalia FBXO32 33 34
  • 93.62 (n)
mouse
(Mus musculus)
Mammalia Fbxo32 33 16 34
  • 91.17 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo32 33
  • 90.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO32 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO32 33 34
  • 84.04 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO32 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo32 33
  • 77.62 (n)
zebrafish
(Danio rerio)
Actinopterygii fbxo32 33 34
  • 72.03 (n)
zgc56479 33
fruit fly
(Drosophila melanogaster)
Insecta CG11658 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mfb-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToMany
Species where no ortholog for FBXO32 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FBXO32 Gene

Paralogs for FBXO32 Gene

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

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

Variants for FBXO32 Gene

Sequence variations from dbSNP and Humsavar for FBXO32 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000002739 -- 123,517,744(-) A/G intron_variant
rs1000073659 -- 123,498,130(-) A/C 3_prime_UTR_variant
rs1000268305 -- 123,541,458(-) C/A upstream_transcript_variant
rs1000309521 -- 123,517,514(-) T/A intron_variant
rs1000349680 -- 123,538,139(-) A/G genic_upstream_transcript_variant, intron_variant

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

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

Disorders for FBXO32 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FBXO32 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscle hypertrophy
  • mslhp
muscle tissue disease
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  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 58
  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 58

Products for FBXO32 Gene

Sources for FBXO32 Gene

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