FBXO40 Gene
protein-coding GIFtS: 46
GCID: GC03P121312
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F-box protein 40
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Aliases
for FBXO40 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| F-Box Protein 401 2 | | KIAA11951 3 5 | | FBX402 3 5 | | Muscle Disease-Related Protein2 3 | | Fbx401 | | F-Box Only Protein 402 |
Export aliases for FBXO40 gene to outside databasesPrevious GC identifers: GC03P122634 GC03P122794 GC03P118686 |
Summaries
for FBXO40 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FBXO40:
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 asprotein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitinationtargets through other protein interaction domains (Jin et al., 2004 (PubMed 15520277)).(supplied by OMIM, Mar 2008)
UniProtKB/Swiss-Prot: FBX40_HUMAN, Q9UH90Function: Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligasecomplex that may function in myogenesis (By similarity)
|
Genomic Views
for FBXO40 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FBXO40 gene promoter:
HOXA9B HOXA9 AML1a CUTL1 HNF-3beta FOXL1 FOXJ2 (long isoform) Sox9 FOXJ2 Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for FBXO40
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXO40 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13.33 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q21.1FBXO40 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P121312: view genomic region
(about GC identifiers)
Start:
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121,311,966 bp from pter |
End:
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121,349,139 bp from pter |
Size:
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37,174 bases |
Orientation:
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plus strand |
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Proteins
for FBXO40 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FBX40_HUMAN, Q9UH90 (See
protein sequence)Recommended Name: F-box only protein 40 Size: 709 amino acids; 79782 Da
Subunit: Directly interacts with SKP1 and CUL1 (By similarity)
Subcellular location: Cytoplasm (By similarity)
Miscellaneous: The expression decreases in the dystrophic muscle of Limb-girdle muscular dystrophy (LGMD) patient
Sequence caution: Sequence=BAA86509.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2RAX7 Q32M70 Q9ULM5Explore the universe of human proteins at neXtProt for FBXO40: NX_Q9UH90
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UH90
FBXO40 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057382.2
ENSEMBL proteins: ENSP00000337510
Human Recombinant Protein Products for FBXO40:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
FBXO40 for ontologies About GeneDecksing
FBXO40 Antibody Products:
Assay Products for FBXO40: |
Protein
Domains /
Families
for FBXO40 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FBXO40 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UH90ProtoNet protein and cluster: Q9UH90 UniProtKB/Swiss-Prot: FBX40_HUMAN, Q9UH90Similarity: Contains 1 F-box domainSimilarity: Contains 1 TRAF-type zinc finger |
Function
for FBXO40 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: FBX40_HUMAN, Q9UH90Function: Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligasecomplex that may function in myogenesis (By similarity) Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- | | GO:0004842 | ubiquitin-protein ligase activity |
IEA | -- | | GO:0008270 | zinc ion binding |
IEA | -- |
FBXO40 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for FBXO40:
Animal Models:
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FBXO40
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO40 |
|
Pathways & Interactions
for FBXO40 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FBXO40
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for FBXO40 (ENSP000003375104) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
FBXO40 for ontologies About GeneDecksing
|
Drugs & Compounds
for FBXO40 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for FBXO40
Search CenterWatch for drugs/clinical trials and news about FBXO40 / FBX40
|
Transcripts
for FBXO40 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FBXO40 gene: NM_016298.3 Unigene Cluster for FBXO40: F-box protein 40 Hs.272564 [show with all ESTs]Unigene Representative Sequence: AB0330211 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000338040(uc003eeg.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FBXO40 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FBXO40
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: FBXO40 (NM_016298) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FBXO40 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXO40 |
Additional cDNA sequence: AB033021.1 AF163259.1 AF204674.1 AK314400.1 BC109275.1 BC109276.1 1 DOTS entry: DT.75161355 19 AceView cDNA sequences: BU188482 BX500290 NM_016298 BX282446 AF163259 BU619808 AA112110 AF204674 BX500612 CF552189 AB033021 BF477618 F34242 AA111925 BX502468 BF576463 BX500755 AL693987 BE968725
GeneLoc Exon Structure
|
Expression
for FBXO40 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FBXO40 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACAGCGAGT
About this image
See FBXO40 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBXO40
SOURCE GeneReport for Unigene cluster: Hs.272564
UniProtKB/Swiss-Prot: FBX40_HUMAN, Q9UH90Tissue specificity: Expressed only in heart and skeletal muscle
SABiosciences Custom PCR Arrays for FBXO40
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FBXO40
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FBXO40 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FBXO40 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FBXO40 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO40 |
Orthologs
for FBXO40 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FBXO40 gene from 5/16 species (see all 16) About this table
ENSEMBL Gene Tree for FBXO40 (if available)
TreeFam Gene Tree for FBXO40 (if available) |
Paralogs
for FBXO40 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FBXO40 gene
- FBXO302
1 SIMAP similar gene for FBXO40 using alignment to 2 protein entries: FBX40_HUMAN (see all proteins):FBXO30
FBXO40 for paralogs About GeneDecksing
|
Genomic Variants
for FBXO40 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FBXO40 (121311966 - 121349139 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for FBXO40
2 CNVs: 31115 2469 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FBXO40 |
|
Disorders
/ Diseases
for FBXO40 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FBXO40 for disorders About GeneDecksing
OMIM gene information: 609107
OMIM disorders: --
2  diseases for FBXO40: About MalaCardslimb-girdle muscular dystrophy muscular dystrophy
Export disorders for FBXO40 gene to outside databases
|
Publications
for FBXO40 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FBXO40 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with FBXO40) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
- FBXO40, a gene encoding a novel muscle-specific F-box protein, is upregulated in denervation-related muscle atrophy. (PubMed id 17928169)1, 2, 9 Ye J....Zhu D. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1 Need A.C....Goldstein D.B. (2009)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1 Jin J....Harper J.W. (2004)
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External Searches for FBXO40 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FBXO40 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FBXO40 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing FBXO40 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FBXO40 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for FBXO40 gene:
Search GeneIP for patents involving FBXO40
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FBXO40 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for FBXO40 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FBXO40 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FBXO40 | | | OriGene Protein Over-expression Lysate for FBXO40 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FBXO40 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FBXO40 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FBXO40 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for FBXO40 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXO40 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBXO40 |
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