POFUT1
entrez
23509
canonical
uniprot
Q9H488
canonical
ensembl
ENSG00000101346
resolver
ensp
ENSP00000364882
resolver
ensp
ENSP00000364902
resolver
genesymbol
POFUT1
resolver
genesymbol_syn
FUT12
resolver
genesymbol_syn
KIAA0180
resolver
hgnc
HGNC:14988
resolver
uniprot
A8K4R8
resolver
uniprot
E1P5M4
resolver
uniprot
Q14685
resolver
uniprot
Q5W185
resolver
uniprot
Q9BW76
resolver
uniprot_entry
OFUT1_HUMAN
resolver
uniprot_sec
A8K4R8
resolver
uniprot_sec
E1P5M4
resolver
uniprot_sec
Q14685
resolver
uniprot_sec
Q5W185
resolver
uniprot_sec
Q9BW76
resolver
amino_acid_sequence
MGAAAWARPLSVSFLLLLLPLPGMPAGSWDPAGYLLYCPCMGRFGNQADHFLGSLAFAKLLNRTLAVPPWIEYQHHKPPFTNLHVSYQKYFKLEPLQAYHRVISLEDFMEKLAPTHWPPEKRVAYCFEVAAQRSPDKKTCPMKEGNPFGPFWDQFHVSFNKSELFTGISFSASYREQWSQRFSPKEHPVLALPGAPAQFPVLEEHRPLQKYMVWSDEMVKTGEAQIHAHLVRPYVGIHLRIGSDWKNACAMLKDGTAGSHFMASPQCVGYSRSTAAPLTMTMCLPDLKEIQRAVKLWVRSLDAQSVYVATDSESYVPELQQLFKGKVKVVSLKPEVAQVDLYILGQADHFIGNCVSSFTAFVKRERDLQGRPSSFFGMDRPPKLRDEF
uniprot
proteins
disease_involvement
DISEASE: Dowling-Degos disease 2 (DDD2) [MIM:615327]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269|PubMed:23684010}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.221
uniprot
proteins
function
FUNCTION: Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs). {ECO:0000269|PubMed:11524432, ECO:0000269|PubMed:28334865, ECO:0000269|PubMed:8358148}.
uniprot
proteins
mass_dalton
43956
uniprot
proteins
mutagenesis
MUTAGEN 240; /note="R->A,C: Strongly impaired ability to activate NOTCH signaling."; /evidence="ECO:0000269|PubMed:28334865"; MUTAGEN 262; /note="M->T: No effect on ability to activate NOTCH signaling."; /evidence="ECO:0000269|PubMed:28334865"; MUTAGEN 356; /note="S->F: Abolishes ability to activate NOTCH signaling."; /evidence="ECO:0000269|PubMed:28334865"; MUTAGEN 366; /note="R->W: Strongly impaired ability to activate NOTCH signaling."; /evidence="ECO:0000269|PubMed:28334865
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:11524432}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
Glycosyltransferase 65 family
uniprot
proteins
pubmed
11524432
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23684010
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28334865
uniprot
proteins
pubmed
8358148
uniprot
proteins
pubmed
8724849
uniprot
proteins
sequence_length
388
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:Q6EV70}.
uniprot
proteins