full name
protein O-fucosyltransferase 1

synonyms
DDD2, FUT12, O-Fuc-T, O-FucT-1, O-FUT, OFUCT1, POFUT1, ENSG00000101346

HGNC
HGNC:14988

Entrez Gene
Gene:23509

ENSEMBL
ENSG00000101346

location
chr: 20
start: 30795625
stop: 30826467
strand: +

OMIM
OMIM:607491: POFUT1 (Autosomal dominant inheritance)
OMIM:615327: Dowling-Degos disease 2

transcripts
NM_015352.1
NM_172236.1

pathways
Other types of O-glycan biosynthesis [NCBI:82978] [KEGG:hsa00514] [PUBMED:19429925] [PUBMED:22669261]
Pre-NOTCH Expression and Processing [NCBI:1269531] [REACTOME:R-HSA-1912422] [PUBMED:21490058] [PUBMED:20805998] [PUBMED:21464368] [PUBMED:9187150] [PUBMED:11707585] [PUBMED:10669757] [PUBMED:9244302] [PUBMED:20080834] [PUBMED:18347015] [PUBMED:19773441] [PUBMED:9207795] [PUBMED:10935637] [PUBMED:19714243] [PUBMED:18243100] [PUBMED:19723635] [PUBMED:11524432] [PUBMED:9727485] [PUBMED:12486116] [PUBMED:20495621] [PUBMED:10935626] [PUBMED:20351093] [PUBMED:19701457] [PUBMED:21602795] [PUBMED:21551231] [PUBMED:9653148]
Pre-NOTCH Processing in the Endoplasmic Reticulum [NCBI:1269533] [REACTOME:R-HSA-1912399] [PUBMED:21490058] [PUBMED:21464368] [PUBMED:18347015] [PUBMED:11524432] [PUBMED:12486116] [PUBMED:18243100]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by NOTCH [NCBI:1269530] [REACTOME:R-HSA-157118]