Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Beta-1,3-N-acetylglucosaminyltransferase radical fringe

Gene

RFNG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis.By similarity

Catalytic activityi

Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.

Cofactori

Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei74SubstrateBy similarity1
Binding sitei147SubstrateBy similarity1
Metal bindingi148ManganeseBy similarity1
Active sitei237By similarity1
Metal bindingi261ManganeseBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Glycosyltransferase, Transferase
Biological processDifferentiation, Neurogenesis
LigandManganese, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1912420 Pre-NOTCH Processing in Golgi
SIGNORiQ9Y644

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,3-N-acetylglucosaminyltransferase radical fringe (EC:2.4.1.222)
Alternative name(s):
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Gene namesi
Name:RFNG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000169733.11
HGNCiHGNC:9974 RFNG
MIMi602578 gene
neXtProtiNX_Q9Y644

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6CytoplasmicSequence analysis6
Transmembranei7 – 29Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini30 – 331LumenalSequence analysisAdd BLAST302

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi5986
OpenTargetsiENSG00000169733
PharmGKBiPA34343

Polymorphism and mutation databases

BioMutaiRFNG
DMDMi296452991

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002191851 – 331Beta-1,3-N-acetylglucosaminyltransferase radical fringeAdd BLAST331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi113N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi114 ↔ 125By similarity
Disulfide bondi143 ↔ 207By similarity
Disulfide bondi311 ↔ 320By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ9Y644
PaxDbiQ9Y644
PeptideAtlasiQ9Y644
PRIDEiQ9Y644

PTM databases

iPTMnetiQ9Y644
PhosphoSitePlusiQ9Y644

Expressioni

Gene expression databases

BgeeiENSG00000169733
CleanExiHS_RFNG
ExpressionAtlasiQ9Y644 baseline and differential
GenevisibleiQ9Y644 HS

Organism-specific databases

HPAiHPA011564
HPA031673

Interactioni

Protein-protein interaction databases

BioGridi111918, 1 interactor
STRINGi9606.ENSP00000307971

Structurei

3D structure databases

ProteinModelPortaliQ9Y644
SMRiQ9Y644
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II9W Eukaryota
ENOG410XS8Y LUCA
GeneTreeiENSGT00390000009913
HOGENOMiHOG000046678
HOVERGENiHBG007986
InParanoidiQ9Y644
KOiK05948
OMAiRQTFIFT
OrthoDBiEOG091G08XO
PhylomeDBiQ9Y644
TreeFamiTF324207

Family and domain databases

InterProiView protein in InterPro
IPR017374 Fringe
IPR003378 Fringe-like
PfamiView protein in Pfam
PF02434 Fringe, 1 hit
PIRSFiPIRSF038073 B-acetylgalactosaminyltfrase, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y644-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRARGALCR ACLALAAALA ALLLLPLPLP RAPAPARTPA PAPRAPPSRP
60 70 80 90 100
AAPSLRPDDV FIAVKTTRKN HGPRLRLLLR TWISRARQQT FIFTDGDDPE
110 120 130 140 150
LELQGGDRVI NTNCSAVRTR QALCCKMSVE YDKFIESGRK WFCHVDDDNY
160 170 180 190 200
VNARSLLHLL SSFSPSQDVY LGRPSLDHPI EATERVQGGR TVTTVKFWFA
210 220 230 240 250
TGGAGFCLSR GLALKMSPWA SLGSFMSTAE QVRLPDDCTV GYIVEGLLGA
260 270 280 290 300
RLLHSPLFHS HLENLQRLPP DTLLQQVTLS HGGPENPHNV VNVAGGFSLH
310 320 330
QDPTRFKSIH CLLYPDTDWC PRQKQGAPTS R
Length:331
Mass (Da):36,424
Last modified:May 18, 2010 - v3
Checksum:i986270FFA7C13573
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti288H → Q in AAC51359 (PubMed:9187150).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC135056 Genomic DNA No translation available.
AF108139 Genomic DNA Translation: AAD34321.1
U94353 mRNA Translation: AAC51359.1
CCDSiCCDS32773.1
RefSeqiNP_002908.1, NM_002917.1
UniGeneiHs.569700

Genome annotation databases

EnsembliENST00000310496; ENSP00000307971; ENSG00000169733
GeneIDi5986
KEGGihsa:5986
UCSCiuc002kdj.3 human

Similar proteinsi

Entry informationi

Entry nameiRFNG_HUMAN
AccessioniPrimary (citable) accession number: Q9Y644
Secondary accession number(s): O00588
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: May 18, 2010
Last modified: May 23, 2018
This is version 131 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health