LFNG
entrez
3955
canonical
uniprot
Q8NES3
canonical
ensembl
ENSG00000106003
resolver
ensp
ENSP00000222725
resolver
ensp
ENSP00000352579
resolver
ensp
ENSP00000384786
resolver
ensp
ENSP00000385764
resolver
genesymbol
LFNG
resolver
hgnc
HGNC:6560
resolver
uniprot
B3KTY6
resolver
uniprot
B5MCR5
resolver
uniprot
O00589
resolver
uniprot
Q96C39
resolver
uniprot
Q9UJW5
resolver
uniprot_entry
LFNG_HUMAN
resolver
uniprot_sec
B3KTY6
resolver
uniprot_sec
B5MCR5
resolver
uniprot_sec
O00589
resolver
uniprot_sec
Q96C39
resolver
uniprot_sec
Q9UJW5
resolver
amino_acid_sequence
MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHTGNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF
uniprot
proteins
disease_involvement
DISEASE: Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269|PubMed:16385447, ECO:0000269|PubMed:30531807}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.222
uniprot
proteins
function
FUNCTION: 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 inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity). {ECO:0000250|UniProtKB:O09010, ECO:0000269|PubMed:11346656}.
uniprot
proteins
mass_dalton
41773
uniprot
proteins
post_translational_modification
PTM: A soluble form may be derived from the membrane form by proteolytic processing. {ECO:0000305}.
uniprot
proteins
protein_family
Glycosyltransferase 31 family
uniprot
proteins
pubmed
11346656
uniprot
proteins
pubmed
12110169
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16385447
uniprot
proteins
pubmed
18485326
uniprot
proteins
pubmed
30531807
uniprot
proteins
pubmed
9187150
uniprot
proteins
sequence_length
379
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:O09010}. Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 9..29; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins