| 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.