Aliases for FBXL6 Gene
Aliases for FBXL6 Gene
External Ids for FBXL6 Gene
- HGNC: 13603
- Entrez Gene: 26233
- Ensembl: ENSG00000182325
- OMIM: 609076
- UniProtKB: Q8N531
Previous GeneCards Identifiers for FBXL6 Gene
- GC08P143145
- GC08U900020
- GC08M145183
- GC08M145583
- GC08M145549
- GC08M140694
- GC08M145579
Summaries for FBXL6 Gene
-
This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for FBXL6 Gene
FBXL6 (F-Box And Leucine Rich Repeat Protein 6) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is ENSG00000271698.
UniProtKB/Swiss-Prot for FBXL6 Gene
-
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXL6 Gene
Genomics for FBXL6 Gene
GeneHancer (GH) Regulatory Elements for FBXL6 Gene
Promoters and enhancers for FBXL6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FBXL6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FBXL6 gene promoter:
Regulatory Element Products
Genomic Locations for FBXL6 Gene
Genomic Locations for FBXL6 Gene
- chr8:144,355,428-144,359,376
- (GRCh38/hg38)
- Size:
- 3,949 bases
- Orientation:
- Minus strand
- chr8:145,579,091-145,583,036
- (GRCh37/hg19)
Genomic View for FBXL6 Gene
Genes around FBXL6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q24.3 by Ensembl
- 8q24.3 by Entrez Gene
- 8q24.3 by HGNC
FBXL6 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 FBXL6 Gene
Proteins for FBXL6 Gene
-
Protein details for FBXL6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N531-FBXL6_HUMAN
- Recommended name:
- F-box/LRR-repeat protein 6
- Protein Accession:
- Q8N531
- Q53G43
- Q9H5W9
- Q9UKC7
Protein attributes for FBXL6 Gene
- Size:
- 539 amino acids
- Molecular mass:
- 58588 Da
- Quaternary structure:
-
- Directly interacts with SKP1 and CUL1.
Protein Expression for FBXL6 Gene
Post-translational modifications for FBXL6 Gene
- Ubiquitination at posLast=428428
Other Protein References for FBXL6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Abcam proteins for FBXL6
Assay Products
No data available for DME Specific Peptides for FBXL6 Gene
Domains & Families for FBXL6 Gene
Gene Families for FBXL6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for FBXL6 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXL6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXL6 Gene
Function for FBXL6 Gene
Molecular function for FBXL6 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | 10531035 |
Phenotypes for FBXL6 Gene
- GenomeRNAi human phenotypes for FBXL6:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability ratio
- Decreased NF-kappaB reporter expression
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased POU5F1-GFP protein expression
- Decreased IL-8 secretion
- Increased cell death HMECs cells
- Synthetic lethal with vaccinia virus (VACV) infection
- Negative genetic interaction between BLM-/- and BLM+/+
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-
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miRNA for FBXL6 Gene
- miRTarBase miRNAs that target FBXL6
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FBXL6
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXL6 Gene
Localization for FBXL6 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Nucleus (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FBXL6 Gene
Pathways & Interactions for FBXL6 Gene
No Data Available
Interacting Proteins for FBXL6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | TAS | 10531035 |
| GO:0016567 | protein ubiquitination | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FBXL6 Gene
Transcripts for FBXL6 Gene
mRNA/cDNA for FBXL6 Gene
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (137) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FBXL6 Gene
CRISPR Products
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OriGene CRISPR knockouts for FBXL6
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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ViGene Biosciences ready-to-package AAV shRNAs for FBXL6 gene
Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FBXL6
- Applied Biological Materials Clones for FBXL6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b |
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| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: |
Expression for FBXL6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Nasal epithelium (51.8), Lung (9.2), and Plasma (7.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXL6 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXL6 Gene:
FBXL6SOURCE GeneReport for Unigene cluster for FBXL6 Gene:
Hs.12271Evidence on tissue expression from TISSUES for FBXL6 Gene
- Skin(4.2)
Primer Products
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-
OriGene qPCR primer pairs and template standards for FBXL6
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No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL6 Gene
Orthologs for FBXL6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXL6 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXL6 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXL6 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxl6 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxl6 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXL6 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXL6 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FBXL6 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | FBXL6 34 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006431 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | fbl6 33 34 |
|
||
| CG13213 35 |
|
|
- Species where no ortholog for FBXL6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- chicken (Gallus gallus)
- 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 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FBXL6 Gene
Paralogs for FBXL6 Gene
Variants for FBXL6 Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111588500 | likely-benign, not specified, Brown-Vialetto-Van Laere syndrome 2 | 144,359,720(-) | C/T | upstream_transcript_variant | |
| rs117500243 | uncertain-significance, benign, not specified, Brown-Vialetto-Van Laere syndrome 2 | 144,359,845(-) | C/A/G/T | upstream_transcript_variant | |
| rs144912258 | uncertain-significance, Brown-Vialetto-Van Laere syndrome 2 | 144,360,316(-) | G/A/T | upstream_transcript_variant | |
| rs147954962 | likely-benign, benign, not specified, Brown-Vialetto-Van Laere syndrome 2 | 144,360,135(-) | C/T | upstream_transcript_variant | |
| rs151081625 | uncertain-significance, Brown-Vialetto-Van Laere syndrome 2 | 144,360,027(-) | G/A | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv831489 | CNV | loss | 17160897 |
| nsv612931 | CNV | loss | 21841781 |
| nsv515809 | CNV | gain+loss | 19592680 |
| nsv470249 | CNV | loss | 18288195 |
| nsv428208 | CNV | gain | 18775914 |
| esv3399198 | CNV | insertion | 20981092 |
| esv3382509 | CNV | insertion | 20981092 |
| esv3310508 | CNV | novel sequence insertion | 20981092 |
| esv2759652 | CNV | gain+loss | 17122850 |
| esv2664345 | CNV | deletion | 23128226 |
| dgv12437n54 | CNV | loss | 21841781 |
| dgv12434n54 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
68.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.04;
60.52% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FBXL6 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL6 Gene
Disorders for FBXL6 Gene
Additional Disease Information for FBXL6
No disorders were found for FBXL6 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBXL6 Gene
Publications for FBXL6 Gene
- Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C … Pagano M (Current biology : CB 1999) 2 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 58
- Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
Products for FBXL6 Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FBXL6
- antibodies-online: Search results for 20 available FBXL6 Antibodies ranked by validation data
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Sources for FBXL6 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
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