Aliases for FBXO32 Gene
Aliases for FBXO32 Gene
External Ids for FBXO32 Gene
- HGNC: 16731
- Entrez Gene: 114907
- Ensembl: ENSG00000156804
- OMIM: 606604
- UniProtKB: Q969P5
Previous GeneCards Identifiers for FBXO32 Gene
- GC08M123657
- GC08M124573
- GC08M124184
- GC08M124471
- GC08M124584
- GC08M119840
- GC08M124510
Summaries 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 Class I MHC mediated antigen processing and presentation. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO32 Gene
Genomics for FBXO32 Gene
Regulatory Elements for FBXO32 Gene
Enhancers for FBXO32 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXO32 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXO32 gene promoter:
Regulatory Element Products
Genomic Location for FBXO32 Gene
- Chromosome:
- 8
- Start:
- 123,497,887 bp from pter
- End:
- 123,541,253 bp from pter
- Size:
- 43,367 bases
- Orientation:
- Minus strand
Genomic View for FBXO32 Gene
Genes around FBXO32 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q24.13 by Ensembl
- 8q24.13 by Entrez Gene
- 8q24.13 by HGNC
FBXO32 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for FBXO32 Gene
Post-translational modifications for FBXO32 Gene
Other Protein References for FBXO32 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for FBXO32
Protein Products
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-
Cloud-Clone Corp. Proteins for FBXO32
- antibodies-online Proteins for FBXO32: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FBXO32
-
Abcam proteins for FBXO32
No data available for DME Specific Peptides for FBXO32 Gene
Domains & Families for FBXO32 Gene
Gene Families for FBXO32 Gene
- HGNC:
Suggested Antigen Peptide Sequences for FBXO32 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 18354498 |
Phenotypes for FBXO32 Gene
- MGI mutant phenotypes for FBXO32:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FBXO32:
Animal Models for FBXO32 Gene
- MGI Knock Outs for FBXO32:
-
- Fbxo32 tm1Glas
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FBXO32 gene
-
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CRISPR Products
-
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-
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miRNA for FBXO32 Gene
- miRTarBase miRNAs that target FBXO32
miRNA Products
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Inhibitory RNA Products
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-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| lysosome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| 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 |
Pathways & Interactions for FBXO32 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | FoxO signaling pathway | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling | ||
| 5 | FoxO family signaling | ||
Pathways by source for FBXO32 Gene
3 BioSystems pathways for FBXO32 Gene
4 Reactome pathways for FBXO32 Gene
1 KEGG pathway for FBXO32 Gene
UniProtKB/Swiss-Prot Q969P5-FBX32_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FBXO32 Gene
Selected Interacting proteins:
ENSP00000428205
Q969P5-FBX32_HUMAN
for FBXO32 Gene via
STRING
MINT
IID
UniProtKB
SIGNOR curated interactions 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 | -- |
Transcripts for FBXO32 Gene
mRNA/cDNA for FBXO32 Gene
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (265) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FBXO32
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO32
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miRNA Products
- Search ViGene Biosciences for FBXO32
Inhibitory RNA Products
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-
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Flow Cytometry Products
Expression for FBXO32 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
-
Eye (Sensory Organs)
- AII Amacrine Cells Inner Nuclear Layer
-
Neurons
- AII Amacrine Cells Inner Nuclear Layer
- Neural Crest (Gastrulation Derivatives)
- Placenta (Extraembryonic Tissues)
-
Skeletal Muscle (Muscoskeletal System)
-
Dermis (Integumentary System)
mRNA differential expression in normal tissues according to GTEx for FBXO32 Gene
This gene is overexpressed in Muscle - Skeletal (x17.6).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FBXO32 Gene:
FBXO32SOURCE GeneReport for Unigene cluster for FBXO32 Gene:
Hs.403933mRNA 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(2.4)
Primer Products
-
OriGene qPCR primer pairs for FBXO32
-
OriGene qPCR primer pairs and template standards for FBXO32
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO32 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXO32 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FBXO32 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXO32 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxo32 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxo32 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO32 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXO32 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXO32 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbxo32 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fbxo32 34 35 |
|
||
| zgc56479 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG11658 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mfb-1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for FBXO32 Gene
(1) SIMAP similar genes for FBXO32 Gene using alignment to 4 proteins:
Variants for FBXO32 Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000002739 | -- | 123,517,744(+) | TTTCT(A/G)AAATG | intron-variant | |
| rs1000073659 | -- | 123,498,130(+) | AGTAC(A/C)TTAAA | utr-variant-3-prime | |
| rs1000268305 | -- | 123,541,458(+) | CTCCC(A/C)GCCCC | upstream-variant-2KB | |
| rs1000309521 | -- | 123,517,514(+) | TGGAG(A/T)CAGGA | intron-variant | |
| rs1000349680 | -- | 123,538,139(+) | CTCCC(A/G)TGATC | intron-variant |
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)
Relevant External Links for FBXO32 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO32 Gene
Disorders for FBXO32 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscle hypertrophy |
|
|
| muscle tissue disease |
|
|
| dilated cardiomyopathy |
|
|
Search FBXO32 in MalaCards
View complete list of genes associated with diseases
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}.
Relevant External Links for FBXO32
No data available for Genatlas for FBXO32 Gene
Publications for FBXO32 Gene
- Degradation of MyoD mediated by the SCF (MAFbx) ubiquitin ligase. (PMID: 15531760) Tintignac L.A. … Leibovitch S.A. (J. Biol. Chem. 2005) 3 4 22 64
- Identification of ubiquitin ligases required for skeletal muscle atrophy. (PMID: 11679633) Bodine S.C. … Glass D.J. (Science 2001) 2 3 4 64
- FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy. (PMID: 26753747) Al-Yacoub N. … Poizat C. (Genome Biol. 2016) 3 4 64
- A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy. (PMID: 26768247) Al-Hassnan Z.N. … Alburaiki J. (BMC Med. Genet. 2016) 3 4 64
- Identification of essential sequences for cellular localization in the muscle-specific ubiquitin E3 ligase MAFbx/Atrogin 1. (PMID: 22249105) Julie L.C. … Leibovitch S.A. (FEBS Lett. 2012) 3 4 64
Products for FBXO32 Gene
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- antibodies-online Antibodies for FBXO32: See all 69
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- ViGene Biosciences adenoviral particle packaged cDNA for FBXO32 gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBXO32 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer