Gene: RFNG

Basic information

Tag Content
Uniprot ID Q9Y644; O00588;
Entrez ID 5986
Genbank protein ID AAD34321.1; AAC51359.1;
Genbank nucleotide ID NM_002917.1
Ensembl protein ID ENSP00000307971
Ensembl nucleotide ID ENSG00000169733
Gene name Beta-1,3-N-acetylglucosaminyltransferase radical fringe
Gene symbol RFNG
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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.
Sequence
MSRARGALCR ACLALAAALA ALLLLPLPLP RAPAPARTPA PAPRAPPSRP AAPSLRPDDV 60
FIAVKTTRKN HGPRLRLLLR TWISRARQQT FIFTDGDDPE LELQGGDRVI NTNCSAVRTR 120
QALCCKMSVE YDKFIESGRK WFCHVDDDNY VNARSLLHLL SSFSPSQDVY LGRPSLDHPI 180
EATERVQGGR TVTTVKFWFA TGGAGFCLSR GLALKMSPWA SLGSFMSTAE QVRLPDDCTV 240
GYIVEGLLGA RLLHSPLFHS HLENLQRLPP DTLLQQVTLS HGGPENPHNV VNVAGGFSLH 300
QDPTRFKSIH CLLYPDTDWC PRQKQGAPTS R 331

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRFNG102178013A0A452G5I0Capra hircusPredictionMore>>
1:1 orthologRFNG5986Q9Y644Homo sapiensPredictionMore>>
1:1 orthologRfng19719O09009CPOMus musculusPublicationMore>>
1:1 orthologRFNG747153A0A2I3RLY5Pan troglodytesPredictionMore>>
1:1 orthologRFNGA0A286ZQY8Sus scrofaPredictionMore>>
1:1 orthologRfng60433Q6P6T7Rattus norvegicusPredictionMore>>
1:1 orthologrfng414848F1QXC7Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND
GO:0008375 acetylglucosaminyltransferase activityIBA
GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activityIBA
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0007389 pattern specification processIEA
GO:0007399 nervous system developmentIEA
GO:0008593 regulation of Notch signaling pathwayISS
GO:0008593 regulation of Notch signaling pathwayIBA
GO:0009887 animal organ morphogenesisNAS
GO:0030154 cell differentiationIEA
GO:0032092 positive regulation of protein bindingIEA
GO:0036066 protein O-linked fucosylationISS
GO:0036066 protein O-linked fucosylationIBA
GO:0045747 positive regulation of Notch signaling pathwayIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionNAS
GO:0030173 integral component of Golgi membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-157118 Signaling by NOTCHIEA
R-HSA-162582 Signal TransductionIEA
R-HSA-1912420 Pre-NOTCH Processing in GolgiIEA
R-HSA-1912422 Pre-NOTCH Expression and ProcessingIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0217 Developmental protein
KW-0221 Differentiation
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0328 Glycosyltransferase
KW-0333 Golgi apparatus
KW-0464 Manganese
KW-0472 Membrane
KW-0479 Metal-binding
KW-0524 Neurogenesis
KW-1185 Reference proteome
KW-0735 Signal-anchor
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR017374 Fringe
IPR003378 Fringe-like

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF02434 Fringe