Human Gene FBXL18 (ENST00000382368.8_12) from GENCODE V47lift37
  Description: F-box and leucine rich repeat protein 18, transcript variant 2 (from RefSeq NM_024963.6)
Gencode Transcript: ENST00000382368.8_12
Gencode Gene: ENSG00000155034.21_14
Transcript (Including UTRs)
   Position: hg19 chr7:5,515,428-5,553,440 Size: 38,013 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr7:5,521,406-5,553,305 Size: 31,900 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:5,515,428-5,553,440)mRNA (may differ from genome)Protein (718 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FXL18_HUMAN
DESCRIPTION: RecName: Full=F-box/LRR-repeat protein 18; AltName: Full=F-box and leucine-rich repeat protein 18;
FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity).
SUBUNIT: Directly interacts with SKP1 and CUL1 (By similarity).
SIMILARITY: Contains 1 F-box domain.
SIMILARITY: Contains 12 LRR (leucine-rich) repeats.
SEQUENCE CAUTION: Sequence=BAB13838.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FBXL18
Diseases sorted by gene-association score: baraitser-winter syndrome (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.38 RPKM in Brain - Cerebellum
Total median expression: 51.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.40135-0.492 Picture PostScript Text
3' UTR -2768.875978-0.463 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001810 - F-box_dom_cyclin-like

Pfam Domains:
PF00646 - F-box domain
PF12937 - F-box-like
PF19729 - F-box/LRR-repeat protein 18 C-terminal

SCOP Domains:
81383 - F-box domain
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1

ModBase Predicted Comparative 3D Structure on Q96ME1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0000209 protein polyubiquitination
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  KJ904885 - Synthetic construct Homo sapiens clone ccsbBroadEn_14279 FBXL18 gene, encodes complete protein.
AK057042 - Homo sapiens cDNA FLJ32480 fis, clone SKNMC2001057.
JD564591 - Sequence 545615 from Patent EP1572962.
LF207003 - JP 2014500723-A/14506: Polycomb-Associated Non-Coding RNAs.
AK123535 - Homo sapiens cDNA FLJ41541 fis, clone BRTHA3000273, weakly similar to Seven transmembrane helix receptor.
BC015445 - Homo sapiens cDNA clone IMAGE:4425104.
BC042819 - Homo sapiens cDNA clone IMAGE:5303153.
AK001638 - Homo sapiens cDNA FLJ10776 fis, clone NT2RP4000323.
JD426170 - Sequence 407194 from Patent EP1572962.
JD247068 - Sequence 228092 from Patent EP1572962.
JD247066 - Sequence 228090 from Patent EP1572962.
JD247067 - Sequence 228091 from Patent EP1572962.
JD413476 - Sequence 394500 from Patent EP1572962.
JD131536 - Sequence 112560 from Patent EP1572962.
JD198171 - Sequence 179195 from Patent EP1572962.
JD271429 - Sequence 252453 from Patent EP1572962.
JD459836 - Sequence 440860 from Patent EP1572962.
JD231039 - Sequence 212063 from Patent EP1572962.
JD536553 - Sequence 517577 from Patent EP1572962.
JD247065 - Sequence 228089 from Patent EP1572962.
JD217822 - Sequence 198846 from Patent EP1572962.
DQ596756 - Homo sapiens piRNA piR-34822, complete sequence.
JD251845 - Sequence 232869 from Patent EP1572962.
JD311614 - Sequence 292638 from Patent EP1572962.
JD379601 - Sequence 360625 from Patent EP1572962.
JD321709 - Sequence 302733 from Patent EP1572962.
JD095236 - Sequence 76260 from Patent EP1572962.
JD268835 - Sequence 249859 from Patent EP1572962.
LF360086 - JP 2014500723-A/167589: Polycomb-Associated Non-Coding RNAs.
LF360087 - JP 2014500723-A/167590: Polycomb-Associated Non-Coding RNAs.
LF207004 - JP 2014500723-A/14507: Polycomb-Associated Non-Coding RNAs.
LF360088 - JP 2014500723-A/167591: Polycomb-Associated Non-Coding RNAs.
BC006426 - Homo sapiens F-box and leucine-rich repeat protein 18, mRNA (cDNA clone MGC:12908 IMAGE:4026501), complete cds.
BC024256 - Homo sapiens F-box and leucine-rich repeat protein 18, mRNA (cDNA clone MGC:13101 IMAGE:3954975), complete cds.
JD564589 - Sequence 545613 from Patent EP1572962.
JD564590 - Sequence 545614 from Patent EP1572962.
BC004228 - Homo sapiens F-box and leucine-rich repeat protein 18, mRNA (cDNA clone IMAGE:3543931), partial cds.
BC013435 - Homo sapiens F-box and leucine-rich repeat protein 18, mRNA (cDNA clone IMAGE:3892997), complete cds.
JD472424 - Sequence 453448 from Patent EP1572962.
JD472422 - Sequence 453446 from Patent EP1572962.
JD472423 - Sequence 453447 from Patent EP1572962.
JD474994 - Sequence 456018 from Patent EP1572962.
JD179105 - Sequence 160129 from Patent EP1572962.
JD421484 - Sequence 402508 from Patent EP1572962.
JD257030 - Sequence 238054 from Patent EP1572962.
JD514937 - Sequence 495961 from Patent EP1572962.
JD238520 - Sequence 219544 from Patent EP1572962.
JD238519 - Sequence 219543 from Patent EP1572962.
JD246994 - Sequence 228018 from Patent EP1572962.
JD246993 - Sequence 228017 from Patent EP1572962.
JD413430 - Sequence 394454 from Patent EP1572962.
JD198127 - Sequence 179151 from Patent EP1572962.
JD212734 - Sequence 193758 from Patent EP1572962.
JD542757 - Sequence 523781 from Patent EP1572962.
JD537804 - Sequence 518828 from Patent EP1572962.
JD395713 - Sequence 376737 from Patent EP1572962.
KJ903270 - Synthetic construct Homo sapiens clone ccsbBroadEn_12664 FBXL18 gene, encodes complete protein.
AK021529 - Homo sapiens cDNA FLJ11467 fis, clone HEMBA1001647.
AK095394 - Homo sapiens cDNA FLJ38075 fis, clone CTONG2015815, highly similar to F-box/LRR-repeat protein 18.
AK294949 - Homo sapiens cDNA FLJ58101 complete cds, highly similar to F-box/LRR-repeat protein 18.
CU692902 - Synthetic construct Homo sapiens gateway clone IMAGE:100021903 5' read FBXL18 mRNA.
AK130444 - Homo sapiens cDNA FLJ26934 fis, clone RCT06783.
JD453677 - Sequence 434701 from Patent EP1572962.
JD475320 - Sequence 456344 from Patent EP1572962.
JD408347 - Sequence 389371 from Patent EP1572962.
JD069380 - Sequence 50404 from Patent EP1572962.
MA442580 - JP 2018138019-A/14506: Polycomb-Associated Non-Coding RNAs.
MA595663 - JP 2018138019-A/167589: Polycomb-Associated Non-Coding RNAs.
MA595664 - JP 2018138019-A/167590: Polycomb-Associated Non-Coding RNAs.
MA442581 - JP 2018138019-A/14507: Polycomb-Associated Non-Coding RNAs.
MA595665 - JP 2018138019-A/167591: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96ME1 (Reactome details) participates in the following event(s):

R-HSA-8854051 SCF-FBXL18 ubiquitinates FBXL7
R-HSA-8952620 NEDD8:AcM-UBE2M binds CRL1 E3 ubiquitin ligase complex
R-HSA-8956200 MyrG-DCUN1D3 binds CRL1 E3 ubiquitin ligase complex
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-8952618 AcM-UBE2M transfers NEDD8 to CRL1 E3 ubiquitin ligase complex
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8854050 FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
R-HSA-69275 G2/M Transition
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-1640170 Cell Cycle
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024R857, B3KTC9, B4DH63, ENST00000382368.1, ENST00000382368.2, ENST00000382368.3, ENST00000382368.4, ENST00000382368.5, ENST00000382368.6, ENST00000382368.7, FBL18, FXL18_HUMAN, H0Y6I6, NM_024963, Q96ME1, Q9BR90, Q9BTC7, Q9HAK7, uc318qum.1, uc318qum.2
UCSC ID: ENST00000382368.8_12
RefSeq Accession: NM_024963.6
Protein: Q96ME1 (aka FXL18_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.