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Protein

Beta-1,3-N-acetylglucosaminyltransferase radical fringe

Gene

RFNG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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. May be involved in limb formation and in neurogenesis (By similarity).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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei74 – 741SubstrateBy similarity
Binding sitei147 – 1471SubstrateBy similarity
Metal bindingi148 – 1481ManganeseBy similarity
Active sitei237 – 2371By similarity
Metal bindingi261 – 2611ManganeseBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Glycosyltransferase, Transferase

Keywords - Biological processi

Differentiation, Neurogenesis

Keywords - Ligandi

Manganese, 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

HGNCiHGNC:9974. RFNG.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence analysis
Transmembranei7 – 2923Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini30 – 331302LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • integral component of Golgi membrane Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34343.

Polymorphism and mutation databases

BioMutaiRFNG.
DMDMi296452991.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 331331Beta-1,3-N-acetylglucosaminyltransferase radical fringePRO_0000219185Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi113 – 1131N-linked (GlcNAc...)Sequence analysis
Disulfide bondi114 ↔ 125By similarity
Disulfide bondi143 ↔ 207By similarity
Disulfide bondi311 ↔ 320By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9Y644.
MaxQBiQ9Y644.
PaxDbiQ9Y644.
PeptideAtlasiQ9Y644.
PRIDEiQ9Y644.

PTM databases

iPTMnetiQ9Y644.
PhosphoSiteiQ9Y644.

Expressioni

Gene expression databases

BgeeiENSG00000169733.
CleanExiHS_RFNG.
ExpressionAtlasiQ9Y644. baseline and differential.
GenevisibleiQ9Y644. HS.

Organism-specific databases

HPAiHPA011564.
HPA031673.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000307971.

Structurei

3D structure databases

ProteinModelPortaliQ9Y644.
SMRiQ9Y644. Positions 54-322.
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

InterProiIPR017374. Fringe.
IPR003378. Fringe-like.
[Graphical view]
PfamiPF02434. Fringe. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti288 – 2881H → Q in AAC51359 (PubMed:9187150).Curated

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9Y644.
SMRiQ9Y644. Positions 54-322.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000307971.

Protein family/group databases

CAZyiGT31. Glycosyltransferase Family 31.

PTM databases

iPTMnetiQ9Y644.
PhosphoSiteiQ9Y644.

Polymorphism and mutation databases

BioMutaiRFNG.
DMDMi296452991.

Proteomic databases

EPDiQ9Y644.
MaxQBiQ9Y644.
PaxDbiQ9Y644.
PeptideAtlasiQ9Y644.
PRIDEiQ9Y644.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5986.
GeneCardsiRFNG.
H-InvDBHIX0020652.
HGNCiHGNC:9974. RFNG.
HPAiHPA011564.
HPA031673.
MIMi602578. gene.
neXtProtiNX_Q9Y644.
PharmGKBiPA34343.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiRFNG. human.
GenomeRNAii5986.
PROiQ9Y644.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169733.
CleanExiHS_RFNG.
ExpressionAtlasiQ9Y644. baseline and differential.
GenevisibleiQ9Y644. HS.

Family and domain databases

InterProiIPR017374. Fringe.
IPR003378. Fringe-like.
[Graphical view]
PfamiPF02434. Fringe. 1 hit.
[Graphical view]
PIRSFiPIRSF038073. B-acetylgalactosaminyltfrase. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRFNG_HUMAN
AccessioniPrimary (citable) accession number: Q9Y644
Secondary accession number(s): O00588
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: May 18, 2010
Last modified: September 7, 2016
This is version 120 of the entry and version 3 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.