Aliases for FBXL18 Gene
Aliases for FBXL18 Gene
External Ids for FBXL18 Gene
- HGNC: 21874
- Entrez Gene: 80028
- Ensembl: ENSG00000155034
- OMIM: 609084
- UniProtKB: Q96ME1
Previous GeneCards Identifiers for FBXL18 Gene
- GC07M005217
- GC07M005244
- GC07M005437
- GC07M005428
Summaries for FBXL18 Gene
-
The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]
GeneCards Summary for FBXL18 Gene
FBXL18 (F-Box And Leucine Rich Repeat Protein 18) is a Protein Coding gene. Diseases associated with FBXL18 include Baraitser-Winter Syndrome. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.
UniProtKB/Swiss-Prot for FBXL18 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 FBXL18 Gene
Genomics for FBXL18 Gene
Regulatory Elements for FBXL18 Gene
Enhancers for FBXL18 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXL18 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXL18 gene promoter:
Regulatory Element Products
Genomic Location for FBXL18 Gene
- Chromosome:
- 7
- Start:
- 5,431,335 bp from pter
- End:
- 5,513,805 bp from pter
- Size:
- 82,471 bases
- Orientation:
- Minus strand
Genomic View for FBXL18 Gene
Genes around FBXL18 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p22.1 by Ensembl
- 7p22.1 by Entrez Gene
- 7p22.1 by HGNC
FBXL18 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 FBXL18 Gene
Proteins for FBXL18 Gene
-
Protein details for FBXL18 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96ME1-FXL18_HUMAN
- Recommended name:
- F-box/LRR-repeat protein 18
- Protein Accession:
- Q96ME1
- Q9BR90
- Q9BTC7
- Q9HAK7
Protein attributes for FBXL18 Gene
- Size:
- 805 amino acids
- Molecular mass:
- 88341 Da
- Quaternary structure:
-
- Directly interacts with SKP1 and CUL1.
- SequenceCaution:
-
- Sequence=BAB13838.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for FBXL18 Gene
Post-translational modifications for FBXL18 Gene
Other Protein References for FBXL18 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FBXL18
- Invitrogen Antibodies for FBXL18
- antibodies-online Antibodies for FBXL18: See all 22
- Search GeneTex for Antibodies for FBXL18
-
Santa Cruz Biotechnology (SCBT) Antibodies for FBXL18
Protein Products
-
OriGene Purified Proteins for FBXL18
- Search Origene for MassSpec and Protein Over-expression Lysates for FBXL18
- Origene Custom Protein Services for FBXL18
- antibodies-online Proteins for FBXL18: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FBXL18
Assay Products
- antibodies-online Kits for FBXL18: See all 21
No data available for DME Specific Peptides for FBXL18 Gene
Domains & Families for FBXL18 Gene
Gene Families for FBXL18 Gene
Protein Domains for FBXL18 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXL18 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXL18 Gene
Function for FBXL18 Gene
Molecular function for FBXL18 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 | -- |
| GO:0005515 | protein binding | IPI | -- |
Phenotypes for FBXL18 Gene
- GenomeRNAi human phenotypes for FBXL18:
Animal Model Products
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-
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-
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- Search ViGene Biosciences for FBXL18
CRISPR Products
-
OriGene CRISPR knockouts for FBXL18
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXL18
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miRNA for FBXL18 Gene
- miRTarBase miRNAs that target FBXL18
-
- hsa-mir-124-3p (MIRT022552)
- hsa-mir-16-5p (MIRT031644)
- hsa-mir-193b-3p (MIRT041358)
- hsa-mir-484 (MIRT042025)
- hsa-mir-4709-3p (MIRT454644)
- hsa-mir-4646-5p (MIRT454645)
- hsa-mir-6780a-5p (MIRT454646)
- hsa-mir-6779-5p (MIRT454647)
- hsa-mir-3689c (MIRT454648)
- hsa-mir-3689b-3p (MIRT454649)
- hsa-mir-3689a-3p (MIRT454650)
- hsa-mir-30b-3p (MIRT454651)
- hsa-mir-1273h-5p (MIRT454652)
- hsa-mir-6778-5p (MIRT454653)
- hsa-mir-1233-5p (MIRT454654)
- hsa-mir-4725-3p (MIRT454655)
- hsa-mir-6780b-5p (MIRT454656)
- hsa-mir-4271 (MIRT454657)
- hsa-mir-6799-5p (MIRT454658)
- hsa-mir-6883-5p (MIRT454659)
- hsa-mir-6785-5p (MIRT454660)
- hsa-mir-4728-5p (MIRT454661)
- hsa-mir-149-3p (MIRT454662)
- hsa-mir-7106-5p (MIRT454663)
- hsa-mir-6851-5p (MIRT454664)
- hsa-mir-3689d (MIRT454665)
- hsa-mir-6077 (MIRT454666)
- hsa-mir-6134 (MIRT454667)
- hsa-mir-6884-5p (MIRT454668)
- hsa-mir-485-5p (MIRT454669)
- hsa-mir-6783-5p (MIRT454670)
- hsa-mir-653-5p (MIRT557920)
- hsa-mir-5585-3p (MIRT557921)
- hsa-mir-190a-3p (MIRT557922)
- hsa-mir-5011-5p (MIRT557923)
- hsa-mir-1277-5p (MIRT557924)
- hsa-mir-595 (MIRT557925)
- hsa-mir-8064 (MIRT610158)
- hsa-mir-6841-3p (MIRT610159)
- hsa-mir-5587-3p (MIRT610160)
- hsa-mir-6840-5p (MIRT610161)
- hsa-mir-362-3p (MIRT610162)
- hsa-mir-329-3p (MIRT610163)
- hsa-mir-8485 (MIRT610164)
- hsa-mir-3679-3p (MIRT640636)
- hsa-mir-6749-3p (MIRT640637)
- hsa-mir-6826-3p (MIRT640638)
- hsa-mir-5193 (MIRT640639)
- hsa-mir-4667-3p (MIRT640640)
- hsa-mir-1470 (MIRT640641)
- hsa-mir-6887-3p (MIRT640642)
- hsa-mir-6795-3p (MIRT640643)
- hsa-mir-5089-3p (MIRT691895)
- hsa-mir-4703-3p (MIRT691896)
- hsa-mir-222-3p (MIRT691897)
- hsa-mir-221-3p (MIRT691898)
- hsa-mir-548v (MIRT691899)
- hsa-mir-187-5p (MIRT691900)
- hsa-mir-139-5p (MIRT691901)
- hsa-mir-7852-3p (MIRT691902)
- hsa-mir-513b-3p (MIRT691903)
- hsa-mir-3591-3p (MIRT691904)
- hsa-mir-21-3p (MIRT691905)
miRNA Products
- Search ViGene Biosciences for FBXL18
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXL18
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-
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-
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Cell Line Products
-
Horizon Cell Lines for FBXL18
-
ViGene Biosciences adenoviral particle packaged cDNA for FBXL18 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FBXL18 gene
-
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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 FBXL18 Gene
Localization for FBXL18 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXL18 Gene
Pathways & Interactions for FBXL18 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | Regulation of PLK1 Activity at G2/M Transition |
.49
|
|
| 4 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for FBXL18 Gene
Interacting Proteins for FBXL18 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | TAS | -- |
| GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | TAS | -- |
| GO:0043687 | post-translational protein modification | TAS | -- |
No data available for SIGNOR curated interactions for FBXL18 Gene
Transcripts for FBXL18 Gene
mRNA/cDNA for FBXL18 Gene
- (4) REFSEQ mRNAs :
- (51) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FBXL18
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXL18
- GenScript: Design CRISPR guide RNA sequences for FBXL18
miRNA Products
- Search ViGene Biosciences for FBXL18
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBXL18
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-
ViGene Biosciences ready-to-package AAV shRNAs for FBXL18 gene
Clone Products
-
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for FBXL18 Gene
This gene is overexpressed in Breast (27.2) and Frontal cortex (15.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXL18 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXL18 Gene:
FBXL18SOURCE GeneReport for Unigene cluster for FBXL18 Gene:
Hs.623974Evidence on tissue expression from TISSUES for FBXL18 Gene
- Skin(4.6)
- Nervous system(4.4)
Primer Products
-
OriGene qPCR primer pairs for FBXL18
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL18 Gene
Orthologs for FBXL18 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXL18 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXL18 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbxl18 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxl18 16 35 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXL18 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXL18 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FBXL18 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBXL18 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXL18 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbxl18 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fbxl18 34 35 |
|
- Species where no ortholog for FBXL18 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 FBXL18 Gene
(1) SIMAP similar genes for FBXL18 Gene using alignment to 4 proteins:
No data available for Paralogs for FBXL18 Gene
Variants for FBXL18 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000003585 | -- | 5,493,205(+) | TGGCA(C/T)GCACC | intron-variant | |
| rs1000004388 | -- | 5,464,128(+) | ATCAC(A/G)AGGCC | intron-variant | |
| rs1000013631 | -- | 5,472,624(+) | ACATG(A/G)AGGTG | intron-variant | |
| rs1000060219 | -- | 5,483,994(+) | GTTTC(A/G)GCAAT | intron-variant | |
| rs1000098776 | -- | 5,463,972(+) | CTGAC(C/T)TCATG | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3482n106 | OTHER | inversion | 24896259 |
| esv2671867 | CNV | deletion | 23128226 |
| esv2733912 | CNV | deletion | 23290073 |
| esv3611974 | CNV | loss | 21293372 |
| esv3611975 | CNV | loss | 21293372 |
| nsv436904 | CNV | insertion | 17901297 |
| nsv471304 | CNV | loss | 18288195 |
| nsv517558 | CNV | loss | 19592680 |
| nsv526194 | CNV | gain | 19592680 |
| nsv823999 | CNV | gain | 20364138 |
| nsv830890 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
21.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.63;
65.55% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBXL18 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL18 Gene
Disorders for FBXL18 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| baraitser-winter syndrome |
|
|
Search FBXL18 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FBXL18
No data available for UniProtKB/Swiss-Prot and Genatlas for FBXL18 Gene
Publications for FBXL18 Gene
- 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
- F-box protein Fbxl18 mediates polyubiquitylation and proteasomal degradation of the pro-apoptotic SCF subunit Fbxl7. (PMID: 25654763) Liu Y. … Mallampalli R.K. (Cell Death Dis 2015) 3 64
- Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
Products for FBXL18 Gene
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- Novus Biologicals Antibodies for FBXL18
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- antibodies-online Antibodies for FBXL18: See all 22
- antibodies-online Kits for FBXL18: See all 21
- antibodies-online Proteins for FBXL18: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for FBXL18
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- ViGene Biosciences adenoviral particle packaged cDNA for FBXL18 gene
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- Search ViGene Biosciences for FBXL18
- Santa Cruz Biotechnology (SCBT) Antibodies for FBXL18
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- Santa Cruz Biotechnology (SCBT) CRISPR for FBXL18
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- VectorBuilder custom plasmid, inducible vectors for FBXL18
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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 FBXL18 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