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. 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
Regulatory Elements for FBXL6 Gene
Enhancers for FBXL6 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 |
|---|---|---|---|---|---|---|---|---|
| GH08G143595 | 1.1 | ENCODE | 9.9 | +761.4 | 761445 | 5.1 | HDGF PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B | NAPRT JRK LOC105375803 ZNF696 ZNF623 LRRC14 GSDMD TIGD5 ADCK5 VPS28 |
| GH08G144353 | 1.3 | Ensembl ENCODE | 0.7 | +2.9 | 2864 | 6.7 | PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 KLF13 | CPSF1 VPS28 TONSL FBXL6 ENSG00000271698 TMEM249 |
| GH08G144363 | 0.8 | ENCODE | 0.7 | -3.7 | -3700 | 0.2 | ELF3 DRAP1 MXI1 SAP130 ARID4B CEBPG HBP1 ZNF48 RARA TEAD3 | CPSF1 VPS28 TONSL-AS1 TONSL HSF1 BOP1 FBXL6 LOC101928902 |
| GH08G144369 | 0.9 | ENCODE | 0.4 | -10.1 | -10135 | 0.7 | HDAC1 TBP HDGF PKNOX1 ATF1 RB1 CREB3L1 KLF17 FEZF1 NFXL1 | VPS28 TONSL-AS1 TONSL HSF1 BOP1 LOC101928902 FBXL6 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXL6 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXL6 gene promoter:
Regulatory Element Products
Genomic Location for FBXL6 Gene
- Chromosome:
- 8
- Start:
- 144,355,428 bp from pter
- End:
- 144,359,376 bp from pter
- Size:
- 3,949 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 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
Other Protein References for FBXL6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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-
Abcam proteins for FBXL6
Assay Products
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No data available for DME Specific Peptides for FBXL6 Gene
Domains & Families for FBXL6 Gene
Gene Families for FBXL6 Gene
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+/+
Animal Model Products
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-
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-
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CRISPR Products
-
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-
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miRNA for FBXL6 Gene
- miRTarBase miRNAs that target FBXL6
miRNA Products
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Inhibitory RNA Products
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-
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Cell Line Products
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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 FBXL6 Gene
Localization for FBXL6 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
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
-
OriGene CRISPR knockouts for FBXL6
-
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miRNA Products
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Flow Cytometry Products
| 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, 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
-
OriGene qPCR primer pairs and template standards for FBXL6
-
OriGene qPCR primer pairs for FBXL6
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 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXL6 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXL6 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxl6 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxl6 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXL6 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXL6 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FBXL6 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | FBXL6 35 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006431 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | fbl6 34 35 |
|
||
| CG13213 36 |
|
|
- 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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs374071862 | Pathogenic | 144,359,875(+) | TGCCT(C/T)GAATG | intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs375088539 | Pathogenic | 144,360,300(+) | CCTAT(C/T)AGCTT | nc-transcript-variant, upstream-variant-2KB, reference, stop-gained | |
| rs397514538 | Pathogenic | 144,359,860(+) | GGCAC(C/T)GGCAT | intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs397514657 | Pathogenic | 144,359,647(+) | CGTCT(C/G/T)TGTGC | intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime | |
| rs398123067 | Pathogenic | 144,360,343(+) | GTTGG(A/C)CGCCA | nc-transcript-variant, upstream-variant-2KB, reference, missense |
| 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)
Relevant External Links for FBXL6 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL6 Gene
Disorders for FBXL6 Gene
Relevant External Links for FBXL6
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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. (Curr. Biol. 1999) 2 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 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 family of mammalian F-box proteins. (PMID: 10531037) Winston J.T. … Harper J.W. (Curr. Biol. 1999) 2 3 64
- Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
Products for FBXL6 Gene
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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) 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