Human Gene RFNG (uc002kdj.3)
  Description: Homo sapiens RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (RFNG), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr17:80,005,778-80,009,650 Size: 3,873 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr17:80,006,602-80,009,642 Size: 3,041 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:80,005,778-80,009,650)mRNA (may differ from genome)Protein (331 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RFNG_HUMAN
DESCRIPTION: RecName: Full=Beta-1,3-N-acetylglucosaminyltransferase radical fringe; EC=2.4.1.222; AltName: Full=O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase;
FUNCTION: Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. May be involved in limb formation and in neurogenesis (By similarity).
CATALYTIC ACTIVITY: Transfers a beta-D-GlcNAc residue from UDP-D- GlcNAc to the fucose residue of a fucosylated protein acceptor.
COFACTOR: Manganese (By similarity).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Potential).
SIMILARITY: Belongs to the glycosyltransferase 31 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  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: RFNG
Diseases sorted by gene-association score: renal cell carcinoma, papillary (1)

-  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: 51.11 RPKM in Ovary
Total median expression: 1552.04 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
3' UTR -389.00824-0.472 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
IPR017374 - Fringe
IPR003378 - Fringe-like

Pfam Domains:
PF02434 - Fringe-like

ModBase Predicted Comparative 3D Structure on Q9Y644
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0007275 multicellular organism development
GO:0007389 pattern specification process
GO:0007399 nervous system development
GO:0008593 regulation of Notch signaling pathway
GO:0009887 animal organ morphogenesis
GO:0030154 cell differentiation
GO:0032092 positive regulation of protein binding
GO:0036066 protein O-linked fucosylation
GO:0045747 positive regulation of Notch signaling pathway

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane


-  Descriptions from all associated GenBank mRNAs
  BC069034 - Homo sapiens radical fringe homolog (Drosophila), mRNA (cDNA clone IMAGE:6295914).
AF038196 - Homo sapiens clone 23701 mRNA sequence.
BC035781 - Homo sapiens RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, mRNA (cDNA clone IMAGE:5590200), with apparent retained intron.
BC050399 - Homo sapiens radical fringe homolog (Drosophila), mRNA (cDNA clone IMAGE:5588638), partial cds.
BC146805 - Homo sapiens RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, mRNA (cDNA clone MGC:167010 IMAGE:8860343), complete cds.
AK094016 - Homo sapiens cDNA FLJ36697 fis, clone UTERU2008962, moderately similar to Homo sapiens radical fringe (RFNG) gene.
AX748413 - Sequence 1938 from Patent EP1308459.
BC080181 - Homo sapiens cDNA clone IMAGE:6075051.
BC014495 - Homo sapiens, clone IMAGE:4850415, mRNA.
JD273865 - Sequence 254889 from Patent EP1572962.
JD525493 - Sequence 506517 from Patent EP1572962.
JD143090 - Sequence 124114 from Patent EP1572962.
JD484766 - Sequence 465790 from Patent EP1572962.
JD230723 - Sequence 211747 from Patent EP1572962.
JD216547 - Sequence 197571 from Patent EP1572962.
JD278041 - Sequence 259065 from Patent EP1572962.
JD255109 - Sequence 236133 from Patent EP1572962.
JD098875 - Sequence 79899 from Patent EP1572962.
JD342064 - Sequence 323088 from Patent EP1572962.
JD173430 - Sequence 154454 from Patent EP1572962.
JD544253 - Sequence 525277 from Patent EP1572962.
AK302068 - Homo sapiens cDNA FLJ50909 complete cds, highly similar to Beta-1,3-N-acetylglucosaminyltransferase radical fringe (EC 2.4.1.222).
JD076860 - Sequence 57884 from Patent EP1572962.
JD100731 - Sequence 81755 from Patent EP1572962.
JD255515 - Sequence 236539 from Patent EP1572962.
JD543851 - Sequence 524875 from Patent EP1572962.
JD530471 - Sequence 511495 from Patent EP1572962.
JD537830 - Sequence 518854 from Patent EP1572962.
JD252151 - Sequence 233175 from Patent EP1572962.
JD335614 - Sequence 316638 from Patent EP1572962.
JD387380 - Sequence 368404 from Patent EP1572962.
AK293568 - Homo sapiens cDNA FLJ56340 complete cds, highly similar to Beta-1,3-N-acetylglucosaminyltransferase radical fringe (EC 2.4.1.222).
JD390521 - Sequence 371545 from Patent EP1572962.
JD104138 - Sequence 85162 from Patent EP1572962.
JD455469 - Sequence 436493 from Patent EP1572962.
JD233858 - Sequence 214882 from Patent EP1572962.
JD415542 - Sequence 396566 from Patent EP1572962.
U94353 - Human radical fringe mRNA, partial cds.
JD040873 - Sequence 21897 from Patent EP1572962.
JD384258 - Sequence 365282 from Patent EP1572962.
JD380130 - Sequence 361154 from Patent EP1572962.
JD210889 - Sequence 191913 from Patent EP1572962.
JD483846 - Sequence 464870 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04330 - Notch signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9Y644 (Reactome details) participates in the following event(s):

R-HSA-1912355 Glycosylation of Pre-NOTCH by FRINGE
R-HSA-1912420 Pre-NOTCH Processing in Golgi
R-HSA-1912422 Pre-NOTCH Expression and Processing
R-HSA-157118 Signaling by NOTCH
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: NM_002917, NP_002908, O00588, Q9Y644, RFNG_HUMAN
UCSC ID: uc002kdj.3
RefSeq Accession: NM_002917
Protein: Q9Y644 (aka RFNG_HUMAN)
CCDS: CCDS32773.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002917.1
exon count: 8CDS single in 3' UTR: no RNA size: 1828
ORF size: 996CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2065.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.