Human Gene FBXO6 (ENST00000376753.9_4) from GENCODE V47lift37
  Description: F-box protein 6 (from RefSeq NM_018438.6)
Gencode Transcript: ENST00000376753.9_4
Gencode Gene: ENSG00000116663.11_7
Transcript (Including UTRs)
   Position: hg19 chr1:11,724,257-11,734,411 Size: 10,155 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr1:11,728,716-11,733,908 Size: 5,193 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:11,724,257-11,734,411)mRNA (may differ from genome)Protein (293 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBX6_HUMAN
DESCRIPTION: RecName: Full=F-box only protein 6; AltName: Full=F-box protein that recognizes sugar chains 2; AltName: Full=F-box/G-domain protein 2;
FUNCTION: Substrate-recognition component of some SCF (SKP1-CUL1- F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranlocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high-mannose but also complex- type oligosaccharides. Also recognizes sulfated glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on 'Ser-345'), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to insure that activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter transient impediments during normal DNA replication.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with VCP (By similarity). Part of a SCF (SKP1- cullin-F-box) protein ligase complex. Interacts with CHEK1 and CUL1.
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Contains 1 F-box domain.
SIMILARITY: Contains 1 FBA (F-box associated) domain.
SEQUENCE CAUTION: Sequence=AAF04470.1; Type=Erroneous initiation; Sequence=CAI20215.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=hFBG2; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_other_821";

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 17.82 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 328.52 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.7059-0.368 Picture PostScript Text
3' UTR -181.70503-0.361 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
IPR007397 - F-box-assoc_dom
IPR001810 - F-box_dom_cyclin-like
IPR008979 - Galactose-bd-like

Pfam Domains:
PF00646 - F-box domain
PF04300 - F-box associated region
PF12937 - F-box-like

SCOP Domains:
81383 - F-box domain
49785 - Galactose-binding domain-like

ModBase Predicted Comparative 3D Structure on Q9NRD1
FrontTopSide
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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0030246 carbohydrate binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0000077 DNA damage checkpoint
GO:0000209 protein polyubiquitination
GO:0006281 DNA repair
GO:0006508 proteolysis
GO:0006516 glycoprotein catabolic process
GO:0006974 cellular response to DNA damage stimulus
GO:0006986 response to unfolded protein
GO:0016567 protein ubiquitination
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0019005 SCF ubiquitin ligase complex
GO:0044322 endoplasmic reticulum quality control compartment


-  Descriptions from all associated GenBank mRNAs
  AK314989 - Homo sapiens cDNA, FLJ95911, Homo sapiens F-box only protein 6 (FBXO6), mRNA.
LF383927 - JP 2014500723-A/191430: Polycomb-Associated Non-Coding RNAs.
AF129536 - Homo sapiens F-box protein Fbx6 (FBX6) mRNA, partial cds.
BC020880 - Homo sapiens F-box protein 6, mRNA (cDNA clone MGC:24107 IMAGE:4614957), complete cds.
AF233223 - Homo sapiens F-box protein FBG2 (FBG2) mRNA, complete cds.
CU676766 - Synthetic construct Homo sapiens gateway clone IMAGE:100022193 5' read FBXO6 mRNA.
HQ447671 - Synthetic construct Homo sapiens clone IMAGE:100071017; CCSB012961_01 F-box protein 6 (FBXO6) gene, encodes complete protein.
KJ893552 - Synthetic construct Homo sapiens clone ccsbBroadEn_02946 FBXO6 gene, encodes complete protein.
LF357361 - JP 2014500723-A/164864: Polycomb-Associated Non-Coding RNAs.
LF357360 - JP 2014500723-A/164863: Polycomb-Associated Non-Coding RNAs.
LF206722 - JP 2014500723-A/14225: Polycomb-Associated Non-Coding RNAs.
JD290705 - Sequence 271729 from Patent EP1572962.
JD219476 - Sequence 200500 from Patent EP1572962.
JD518443 - Sequence 499467 from Patent EP1572962.
JD177354 - Sequence 158378 from Patent EP1572962.
LF357359 - JP 2014500723-A/164862: Polycomb-Associated Non-Coding RNAs.
JD142668 - Sequence 123692 from Patent EP1572962.
LF357358 - JP 2014500723-A/164861: Polycomb-Associated Non-Coding RNAs.
JD348908 - Sequence 329932 from Patent EP1572962.
JD507307 - Sequence 488331 from Patent EP1572962.
JD079564 - Sequence 60588 from Patent EP1572962.
JD337213 - Sequence 318237 from Patent EP1572962.
JD155232 - Sequence 136256 from Patent EP1572962.
MA619504 - JP 2018138019-A/191430: Polycomb-Associated Non-Coding RNAs.
MA592938 - JP 2018138019-A/164864: Polycomb-Associated Non-Coding RNAs.
MA592937 - JP 2018138019-A/164863: Polycomb-Associated Non-Coding RNAs.
MA442299 - JP 2018138019-A/14225: Polycomb-Associated Non-Coding RNAs.
MA592936 - JP 2018138019-A/164862: Polycomb-Associated Non-Coding RNAs.
MA592935 - JP 2018138019-A/164861: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9NRD1 (Reactome details) participates in the following event(s):

R-HSA-390470 Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone)
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-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-391251 Protein folding
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B1AK42, B2RC88, ENST00000376753.1, ENST00000376753.2, ENST00000376753.3, ENST00000376753.4, ENST00000376753.5, ENST00000376753.6, ENST00000376753.7, ENST00000376753.8, FBG2, FBS2, FBX6, FBX6_HUMAN, NM_018438, Q9NRD1, Q9UKT3, uc318ndx.1, uc318ndx.2
UCSC ID: ENST00000376753.9_4
RefSeq Accession: NM_018438.6
Protein: Q9NRD1 (aka FBX6_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.