| Tag | Content |
|---|---|
| Uniprot ID | O09009; B1ATU3; |
| Entrez ID | 19719 |
| Genbank protein ID | AAH66023.1; AAB71670.1; AAC53261.1; |
| Genbank nucleotide ID | NM_009053.2 |
| Ensembl protein ID | ENSMUSP00000026156 |
| Ensembl nucleotide ID | ENSMUSG00000025158 |
| Gene name | Beta-1,3-N-acetylglucosaminyltransferase radical fringe |
| Gene symbol | Rfng |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 10391239 |
| 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 (PubMed:28089369). May be involved in limb formation and in neurogenesis (By similarity). |
| Sequence | MSRARRVLCR ACLALAAVLA VLLLLPLPLP LPLPRAPAPD PDRVPTRSLT LEGDRLQPDD 60 VFIAVKTTRK NHGPRLRLLL RTWISRAPRQ TFIFTDGDDP ELQMLAGGRM INTNCSAVRT 120 RQALCCKMSV EYDKFLESGR KWFCHVDDDN YVNPKSLLHL LSTFSSNQDI YLGRPSLDHP 180 IEATERVQGG GTSNTVKFWF ATGGAGFCLS RGLALKMSPW ASLGSFMSTA ERVRLPDDCT 240 VGYIVEGLLG ARLLHSPLFH SHLENLQRLP SGAILQQVTL SYGGPENPHN VVNVAGSFNI 300 QQDPTRFQSV HCLLYPDTHW CPMKNRVEGA FQ 332 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | RFNG | 102178013 | A0A452G5I0 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | RFNG | 5986 | Q9Y644 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Rfng | 19719 | O09009 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | RFNG | 747153 | A0A2I3RLY5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | RFNG | A0A286ZQY8 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Rfng | 60433 | Q6P6T7 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | rfng | 414848 | F1QXC7 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0008375 | acetylglucosaminyltransferase activity | IBA |
| GO:0033829 | O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity | IBA |
| GO:0046872 | metal ion binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0007389 | pattern specification process | IEA |
| GO:0007399 | nervous system development | IEA |
| GO:0008593 | regulation of Notch signaling pathway | IBA |
| GO:0008593 | regulation of Notch signaling pathway | IMP |
| GO:0030154 | cell differentiation | IEA |
| GO:0032092 | positive regulation of protein binding | IDA |
| GO:0036066 | protein O-linked fucosylation | IBA |
| GO:0036066 | protein O-linked fucosylation | IMP |
| GO:0045746 | negative regulation of Notch signaling pathway | ISO |
| GO:0045747 | positive regulation of Notch signaling pathway | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0030173 | integral component of Golgi membrane | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|
| 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 |
| Pfam ID | Pfam Term |
|---|---|
| PF02434 | Fringe |