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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 ... See more...
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. Diseases associated with FBXL6 include Brown-Vialetto-Van Laere Syndrome 2 and Brown-Vialetto-Van Laere Syndrome. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is FBXL7.
UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FBXL6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FBXL6 gene promoter:
-
- AML1a
- c-Myc
- Max
- NRSF form 1
- NRSF form 2
- Pax-5
- PPAR-gamma1
- PPAR-gamma2
- STAT3
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)
- Size:
- 3,946 bases
- Orientation:
- Minus strand
Genomic View for FBXL6 Gene
Genes around FBXL6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q24.3 by HGNC
- 8q24.3 by Entrez Gene
- 8q24.3 by Ensembl
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
Other Protein References for FBXL6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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-
Quality Products:
-
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXL6 Gene
- GenScript: Design optimal peptide antigens:
-
- FBL6A (FBXL6_HUMAN)
- PP14630 (Q71RB6_HUMAN)
No data available for Graphical View of Domain Structure and 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.
Phenotypes From GWAS Catalog for FBXL6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | 10531035 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0061630 | contributes_to ubiquitin protein ligase activity | IBA | 21873635 |
Phenotypes for FBXL6 Gene
- GenomeRNAi human phenotypes for FBXL6:
-
- Decreased viability ratio
- Decreased POU5F1-GFP protein expression
- Increased cell death HMECs cells
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased NF-kappaB reporter expression
- Decreased IL-8 secretion
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Model Products
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CRISPR Products
-
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miRNA for FBXL6 Gene
- miRTarBase miRNAs that target FBXL6
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- Overview of 117 available FBXL6 gene related products
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products
-
Horizon Cell Lines for FBXL6
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXL6 Gene
Localization for FBXL6 Gene
| Compartment | Confidence |
|---|---|
| mitochondrion | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytosol | 1 |
| peroxisome | 0 |
| endoplasmic reticulum | 0 |
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0019005 | SCF ubiquitin ligase complex | IBA | 21873635 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXL6 Gene
Pathways & Interactions for FBXL6 Gene
Interacting Proteins for FBXL6 Gene
GPS-Prot Interaction Network for FBXL6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | TAS | 10531035 |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for FBXL6 Gene
Drugs & Compounds for FBXL6 Gene
No Compound Related Data Available
Drug Products
- Creative Biomart Recombinant Human FBXL6 cell lysate
Transcripts for FBXL6 Gene
mRNA/cDNA for FBXL6 Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (137) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000524492 2007 bps (ENST00000524492.5)
- ENST00000455319 1727 bps (ENST00000455319.6)
- ENST00000331890 1745 bps (ENST00000331890.5)
- ENST00000530142 3108 bps (ENST00000530142.5)
- ENST00000526524 697 bps (ENST00000526524.5)
CRISPR Products
-
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-
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miRNA Products
Inhibitory RNA Products
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- Overview of 117 available FBXL6 gene related products
Clone Products
-
- MG207733
- MG219101
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- MR219101L3
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- RC224939L3
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- RG224939
- RR215022
- RR215022L3
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Addgene plasmids for FBXL6
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- genomics-online: cdna clones - Search for available FBXL6 CDNA products
- Overview of 117 available FBXL6 gene related products
- orf clones - Search for available FBXL6 ORF products
- Overview of 117 available FBXL6 gene related products
- Applied Biological Materials (abm): Clones for FBXL6 - Select products 50% OFF >
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| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| 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, 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
-
OriGene qPCR primer pairs for FBXL6
-
OriGene qPCR primer pairs and template standards for FBXL6
- genomics-online: primer clones - Search for available FBXL6 Primer products
- Overview of 117 available FBXL6 gene related products
Gene Expression Assay Products
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 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FBXL6 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FBXL6 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fbxl6 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxl6 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXL6 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXL6 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FBXL6 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | FBXL6 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006431 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | fbl6 33 32 |
|
OneToOne | |
| CG13213 34 |
|
|
- 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)
Evolution for FBXL6 Gene
- ENSEMBL:
- Gene Tree for FBXL6 (if available)
- TreeFam:
- Gene Tree for FBXL6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FBXL6: view image
Paralogs for FBXL6 Gene
Variants for FBXL6 Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1016614259 | uncertain-significance, Brown-Vialetto-Van Laere syndrome 2 | 144,359,916(-) | C/T | upstream_transcript_variant | |
| rs111588500 | likely-benign, not specified, Brown-Vialetto-Van Laere syndrome 2 | 144,359,720(-) | C/T | upstream_transcript_variant | |
| rs1166880307 | uncertain-significance, Brown-Vialetto-Van Laere syndrome 2 | 144,360,097(-) | 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 | |
| rs1330914046 | uncertain-significance, Brown-Vialetto-Van Laere syndrome 2 | 144,359,811(-) | G/A/C | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv12434n54 | CNV | loss | 21841781 |
| dgv12437n54 | CNV | loss | 21841781 |
| esv2664345 | CNV | deletion | 23128226 |
| esv2759652 | CNV | gain+loss | 17122850 |
| esv3310508 | CNV | novel sequence insertion | 20981092 |
| esv3382509 | CNV | insertion | 20981092 |
| esv3399198 | CNV | insertion | 20981092 |
| nsv428208 | CNV | gain | 18775914 |
| nsv470249 | CNV | loss | 18288195 |
| nsv515809 | CNV | gain+loss | 19592680 |
| nsv612931 | CNV | loss | 21841781 |
| nsv831489 | CNV | loss | 17160897 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL6 Gene
Disorders for FBXL6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brown-vialetto-van laere syndrome 2 |
|
|
| brown-vialetto-van laere syndrome |
|
|
Search FBXL6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FBXL6
No data available for 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 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
- 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 56
- A family of mammalian F-box proteins. (PMID: 10531037) Winston JT … Harper JW (Current biology : CB 1999) 2 3 56
- RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 56
ExternalLinks
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- MG207733
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- RR215022
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for FBXL6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL6
Sources for FBXL6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource