Human Gene FBH1 (ENST00000362091.9_7) from GENCODE V47lift37
  Description: F-box DNA helicase 1, transcript variant 2 (from RefSeq NM_178150.3)
Gencode Transcript: ENST00000362091.9_7
Gencode Gene: ENSG00000134452.20_10
Transcript (Including UTRs)
   Position: hg19 chr10:5,932,206-5,979,556 Size: 47,351 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr10:5,932,309-5,979,243 Size: 46,935 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:5,932,206-5,979,556)mRNA (may differ from genome)Protein (1043 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBX18_HUMAN
DESCRIPTION: RecName: Full=F-box only protein 18; EC=3.6.4.12; AltName: Full=F-box DNA helicase 1;
FUNCTION: DNA-dependent ATPase. Unwinds double-stranded DNA in a 3' to 5' direction.
FUNCTION: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Part of a SCF E3 ubiquitin ligase complex consisting of SKP1, CUL1, RBX1 and FBXO18. Interacts with SKP1.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the helicase family. UvrD subfamily.
SIMILARITY: Contains 1 F-box domain.
SEQUENCE CAUTION: Sequence=AAM73631.1; Type=Erroneous initiation; Sequence=BAB55073.1; Type=Erroneous initiation; Sequence=BAB55154.1; 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


+  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: 20.07 RPKM in Fallopian Tube
Total median expression: 654.43 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 -61.70103-0.599 Picture PostScript Text
3' UTR -94.30313-0.301 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
IPR014017 - DNA_helicase_UvrD-like_C
IPR000212 - DNA_helicase_UvrD/REP
IPR001810 - F-box_dom_cyclin-like
IPR014016 - UvrD-like_ATP-bd

Pfam Domains:
PF00580 - UvrD/REP helicase N-terminal domain
PF00646 - F-box domain
PF12937 - F-box-like
PF13245 - AAA domain
PF13361 - UvrD-like helicase C-terminal domain

SCOP Domains:
81383 - F-box domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8NFZ0
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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015616 DNA translocase activity
GO:0016787 hydrolase activity
GO:0043138 3'-5' DNA helicase activity

Biological Process:
GO:0000724 double-strand break repair via homologous recombination
GO:0000737 DNA catabolic process, endonucleolytic
GO:0001934 positive regulation of protein phosphorylation
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0008219 cell death
GO:0016567 protein ubiquitination
GO:0031297 replication fork processing
GO:0032508 DNA duplex unwinding
GO:0035562 negative regulation of chromatin binding
GO:0048478 replication fork protection
GO:0072429 response to intra-S DNA damage checkpoint signaling
GO:1902231 positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage
GO:2000042 negative regulation of double-strand break repair via homologous recombination

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005694 chromosome
GO:0019005 SCF ubiquitin ligase complex


-  Descriptions from all associated GenBank mRNAs
  KJ906377 - Synthetic construct Homo sapiens clone ccsbBroadEn_16047 FBXO18 gene, encodes complete protein.
AK122753 - Homo sapiens cDNA FLJ16282 fis, clone NT2RI3005416, highly similar to F-box only protein 18 (EC 3.6.1.-).
AK095343 - Homo sapiens cDNA FLJ38024 fis, clone CTONG2012996, highly similar to Mus musculus F-box protein FBX18 mRNA.
AF456237 - Homo sapiens testis protein mRNA, complete cds.
BC113375 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone MGC:141935 IMAGE:8322427), complete cds.
BC113377 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone MGC:141937 IMAGE:8322429), complete cds.
AF454502 - Homo sapiens hypothetical protein mRNA, complete cds.
JD536328 - Sequence 517352 from Patent EP1572962.
JD459144 - Sequence 440168 from Patent EP1572962.
BC110884 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone MGC:131916 IMAGE:6147373), complete cds.
AF380349 - Homo sapiens F-box DNA helicase 1 (FBH1) mRNA, complete cds.
AK226128 - Homo sapiens mRNA for F-box only protein, helicase, 18 isoform 1 variant, clone: fj20320.
AK309053 - Homo sapiens cDNA, FLJ99094.
JD038231 - Sequence 19255 from Patent EP1572962.
AK315173 - Homo sapiens cDNA, FLJ96150, Homo sapiens likely ortholog of mouse f-box only protein 18 (FBXO18), mRNA.
BC006430 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone IMAGE:3546002), partial cds.
BC080629 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone IMAGE:6341718), partial cds.
AB384893 - Synthetic construct DNA, clone: pF1KB4084, Homo sapiens FBXO18 gene for F-box only protein 18, complete cds, without stop codon, in Flexi system.
BC020266 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone IMAGE:4587832).
AL832251 - Homo sapiens mRNA; cDNA DKFZp667B1717 (from clone DKFZp667B1717).
BC032674 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone IMAGE:5575619), partial cds.
AK027496 - Homo sapiens cDNA FLJ14590 fis, clone NT2RM4001880, weakly similar to PUTATIVE DNA HELICASE II HOMOLOG (EC 3.6.1.-).
CU689476 - Synthetic construct Homo sapiens gateway clone IMAGE:100017815 5' read FBXO18 mRNA.
AK027381 - Homo sapiens cDNA FLJ14475 fis, clone MAMMA1001259, highly similar to Mus musculus F-box protein FBX18 mRNA.
BC012762 - Homo sapiens F-box protein, helicase, 18, mRNA (cDNA clone IMAGE:3641667), partial cds.
AL133069 - Homo sapiens mRNA; cDNA DKFZp434C1717 (from clone DKFZp434C1717); partial cds.
JD075802 - Sequence 56826 from Patent EP1572962.
JD322581 - Sequence 303605 from Patent EP1572962.
JD525152 - Sequence 506176 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000362091.1, ENST00000362091.2, ENST00000362091.3, ENST00000362091.4, ENST00000362091.5, ENST00000362091.6, ENST00000362091.7, ENST00000362091.8, FBH1 , FBH1_HUMAN, FBX18, FBXO18, NM_178150, Q5JVB0, Q5JVB1, Q7Z4Q6, Q7Z4R0, Q8N1P5, Q8N586, Q8NFZ0, Q96E82, Q96K67, Q96SW7, Q9UFB2, uc318cnf.1, uc318cnf.2
UCSC ID: ENST00000362091.9_7
RefSeq Accession: NM_178150.3
Protein: Q8NFZ0 (aka FBX18_HUMAN or FX18_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.