Aliases for FBXO40 Gene
Aliases for FBXO40 Gene
External Ids for FBXO40 Gene
- HGNC: 29816
- Entrez Gene: 51725
- Ensembl: ENSG00000163833
- OMIM: 609107
- UniProtKB: Q9UH90
Previous GeneCards Identifiers for FBXO40 Gene
- GC03P122634
- GC03P122794
- GC03P121312
- GC03P118686
Summaries for FBXO40 Gene
-
Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
GeneCards Summary for FBXO40 Gene
FBXO40 (F-Box Protein 40) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is FBXO30.
UniProtKB/Swiss-Prot for FBXO40 Gene
-
Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO40 Gene
Genomics for FBXO40 Gene
Regulatory Elements for FBXO40 Gene
Enhancers for FBXO40 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH03G121591 | 1 | ENCODE dbSUPER | 0.7 | +0.1 | 101 | 2.6 | CTCF TEAD4 MAX CEBPG RBBP5 CHD7 RAD21 ZNF316 POLR2A MAFK | IQCB1 FBXO40 RN7SL172P |
| GH03G121574 | 0.8 | ENCODE | 0.4 | -18.5 | -18491 | 0.1 | HDAC1 PKNOX1 ZBTB40 TCF12 GATA2 FOS SP5 JUNB ZEB2 REST | POLQ CSTA ARGFX FBXO40 |
| GH03G121605 | 0.5 | dbSUPER | 0.4 | +12.7 | 12748 | 1.5 | ZNF555 ZFP64 ZNF394 ZNF623 MAFK | IQCB1 FBXO40 RN7SL172P |
| GH03G121609 | 0.5 | dbSUPER | 0.4 | +16.9 | 16870 | 1.5 | CTCF PBX2 RAD21 | HCLS1 EAF2 IQCB1 FBXO40 RN7SL172P |
| GH03G121599 | 0.5 | dbSUPER | 0.4 | +8.7 | 8651 | 4.0 | MEF2D ATF3 CEBPB CEBPG ATF2 | POLQ IQCB1 FBXO40 RN7SL172P |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXO40 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXO40 gene promoter:
Regulatory Element Products
Genomic Location for FBXO40 Gene
- Chromosome:
- 3
- Start:
- 121,593,119 bp from pter
- End:
- 121,630,295 bp from pter
- Size:
- 37,177 bases
- Orientation:
- Plus strand
Genomic View for FBXO40 Gene
Genes around FBXO40 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q13.33 by Ensembl
- 3q13.33 by Entrez Gene
- 3q13.33 by HGNC
FBXO40 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 FBXO40 Gene
Proteins for FBXO40 Gene
-
Protein details for FBXO40 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UH90-FBX40_HUMAN
- Recommended name:
- F-box only protein 40
- Protein Accession:
- Q9UH90
- B2RAX7
- Q32M70
- Q9ULM5
Protein attributes for FBXO40 Gene
- Size:
- 709 amino acids
- Molecular mass:
- 79782 Da
- Quaternary structure:
-
- Directly interacts with SKP1 and CUL1.
- Miscellaneous:
-
- The expression decreases in the dystrophic muscle of Limb-girdle muscular dystrophy (LGMD) patient.
- SequenceCaution:
-
- Sequence=BAA86509.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for FBXO40 Gene
Post-translational modifications for FBXO40 Gene
Other Protein References for FBXO40 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FBXO40
-
Abcam antibodies for FBXO40
- Invitrogen Antibodies for FBXO40
- antibodies-online Antibodies for FBXO40: See all 26
- Search GeneTex for Antibodies for FBXO40
Protein Products
-
OriGene Purified Proteins for FBXO40
- Search Origene for MassSpec and Protein Over-expression Lysates for FBXO40
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- antibodies-online Proteins for FBXO40: See all 6
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- Search GeneTex for Proteins for FBXO40
-
Abcam proteins for FBXO40
Assay Products
- antibodies-online Kits for FBXO40: See all 15
No data available for DME Specific Peptides for FBXO40 Gene
Domains & Families for FBXO40 Gene
Gene Families for FBXO40 Gene
- HGNC:
Protein Domains for FBXO40 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXO40 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXO40 Gene
Function for FBXO40 Gene
Molecular function for FBXO40 Gene
- UniProtKB/Swiss-Prot Function:
- Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0004842 | ubiquitin-protein transferase activity | TAS | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0061630 | ubiquitin protein ligase activity | IEA | -- |
Phenotypes for FBXO40 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FBXO40 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO40 gene
- Search ViGene Biosciences for FBXO40
CRISPR Products
-
OriGene CRISPR knockouts for FBXO40
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO40
- GenScript: Design CRISPR guide RNA sequences for FBXO40
miRNA for FBXO40 Gene
- miRTarBase miRNAs that target FBXO40
-
- hsa-mir-30e-3p (MIRT446586)
- hsa-mir-30d-3p (MIRT446587)
- hsa-mir-30a-3p (MIRT446588)
- hsa-mir-3942-3p (MIRT446589)
- hsa-mir-4725-5p (MIRT446590)
- hsa-mir-548c-3p (MIRT446592)
- hsa-mir-6515-5p (MIRT488996)
- hsa-mir-7111-5p (MIRT488998)
- hsa-mir-6870-5p (MIRT488999)
- hsa-mir-5698 (MIRT489000)
- hsa-mir-4723-5p (MIRT489001)
- hsa-mir-3175 (MIRT489002)
- hsa-mir-8085 (MIRT489003)
- hsa-mir-6731-5p (MIRT489004)
- hsa-mir-3652 (MIRT489005)
- hsa-mir-4430 (MIRT489006)
- hsa-mir-6797-5p (MIRT489007)
- hsa-mir-1249-5p (MIRT489008)
- hsa-mir-5192 (MIRT489009)
- hsa-mir-4693-3p (MIRT489010)
- hsa-mir-6794-5p (MIRT489011)
- hsa-mir-4716-3p (MIRT489012)
miRNA Products
- Search ViGene Biosciences for FBXO40
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FBXO40
- Browse OriGene Inhibitory RNA Products For FBXO40
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO40 gene
Clone Products
-
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Cell Line Products
-
Horizon Cell Lines for FBXO40
-
ViGene Biosciences adenoviral particle packaged cDNA for FBXO40 gene
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO40 Gene
Localization for FBXO40 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBXO40 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for FBXO40 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for FBXO40 Gene
4 Reactome pathways for FBXO40 Gene
Interacting Proteins for FBXO40 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | TAS | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0042692 | muscle cell differentiation | ISS | 17928169 |
| GO:0043687 | post-translational protein modification | TAS | -- |
No data available for SIGNOR curated interactions for FBXO40 Gene
Transcripts for FBXO40 Gene
mRNA/cDNA for FBXO40 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (19) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FBXO40
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO40
- GenScript: Design CRISPR guide RNA sequences for FBXO40
miRNA Products
- Search ViGene Biosciences for FBXO40
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FBXO40
- Browse OriGene Inhibitory RNA Products For FBXO40
-
ViGene Biosciences ready-to-package AAV shRNAs for FBXO40 gene
Clone Products
-
OriGene ORF clones in human for FBXO40
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Flow Cytometry Products
Expression for FBXO40 Gene
mRNA differential expression in normal tissues according to GTEx for FBXO40 Gene
This gene is overexpressed in Heart - Left Ventricle (x19.6), Heart - Atrial Appendage (x15.7), and Muscle - Skeletal (x15.1).
This gene is overexpressed in Plasma (46.0) and Tlymphocyte (17.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBXO40 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXO40 Gene:
FBXO40SOURCE GeneReport for Unigene cluster for FBXO40 Gene:
Hs.272564mRNA Expression by UniProt/SwissProt for FBXO40 Gene:
Q9UH90-FBX40_HUMAN
Tissue specificity:
Expressed only in heart and skeletal muscle.
Evidence on tissue expression from TISSUES for FBXO40 Gene
- Muscle(4.6)
- Nervous system(4)
- Heart(2.4)
Primer Products
-
OriGene qPCR primer pairs for FBXO40
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO40 Gene
Orthologs for FBXO40 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO40 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXO40 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXO40 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxo40 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxo40 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXO40 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO40 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXO40 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXO40 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbxo40 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:dkeyp-69c1.10 34 |
|
||
| FBXO40 (1 of 2) 35 |
|
OneToMany | |||
| FBXO40 (2 of 2) 35 |
|
OneToMany |
- Species where no ortholog for FBXO40 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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)
Paralogs for FBXO40 Gene
(1) SIMAP similar genes for FBXO40 Gene using alignment to 2 proteins:
Variants for FBXO40 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000003261 | -- | 121,612,333(+) | GGAAC(A/G)AATGT | intron-variant | |
| rs1000061197 | -- | 121,618,448(+) | GTGGC(G/T)TGATC | intron-variant | |
| rs1000116804 | -- | 121,602,277(+) | TCTCA(C/T)TTGTA | intron-variant | |
| rs1000138860 | -- | 121,627,148(+) | TCTTT(C/T)CTTTT | utr-variant-3-prime | |
| rs1000205196 | -- | 121,594,686(+) | TTTTT(C/T)CGCCA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv8524n54 | CNV | gain | 21841781 |
| esv2759172 | CNV | gain | 17122850 |
| esv3451038 | OTHER | inversion | 20981092 |
| esv3575598 | CNV | gain | 25503493 |
| esv3575599 | CNV | gain | 25503493 |
| esv3597587 | CNV | gain | 21293372 |
| esv3597593 | CNV | gain | 21293372 |
| esv3597597 | CNV | loss | 21293372 |
| esv3893771 | CNV | loss | 25118596 |
| nsv1007522 | CNV | gain | 25217958 |
| nsv10310 | CNV | gain | 18304495 |
| nsv1131721 | CNV | deletion | 24896259 |
| nsv1141890 | OTHER | inversion | 24896259 |
| nsv591400 | CNV | gain | 21841781 |
| nsv998740 | CNV | gain | 25217958 |
| nsv999335 | CNV | gain | 25217958 |
| nsv999349 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
12.35;
94.18% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBXO40 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FBXO40
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO40 Gene
Disorders for FBXO40 Gene
Relevant External Links for FBXO40
No disorders were found for FBXO40 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBXO40 Gene
Publications for FBXO40 Gene
- FBXO40, a gene encoding a novel muscle-specific F-box protein, is upregulated in denervation-related muscle atrophy. (PMID: 17928169) Ye J. … Zhu D. (Gene 2007) 3 4 22 64
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
- A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need A.C. … Goldstein D.B. (Hum. Mol. Genet. 2009) 3 46 64
- 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 64
- A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging. (PMID: 23223146) Le Clerc S. … Zagury J.F. (J. Invest. Dermatol. 2013) 3 64
Products for FBXO40 Gene
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- GenScript: Design CRISPR guide RNA sequences for FBXO40
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- antibodies-online Antibodies for FBXO40: See all 26
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- ViGene Biosciences adenoviral particle packaged cDNA for FBXO40 gene
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- VectorBuilder custom plasmid, inducible vectors for FBXO40
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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 FBXO40 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
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