|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
GNT1
UGT1
UGT1A1*28
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
Crigler-Najjar syndrome type I
Crigler-Najjar syndrome type II
Gilbert syndrome
|
|
gptkbp:drugMetabolism
|
gptkb:irinotecan
|
|
gptkbp:encodes
|
UDP-glucuronosyltransferase 1-1
|
|
gptkbp:Entrez_Gene_ID
|
54658
ENSG00000241635
|
|
gptkbp:enzymeCommissionNumber
|
2.4.1.17
|
|
gptkbp:expressedIn
|
liver
|
|
gptkbp:fullName
|
UDP glucuronosyltransferase family 1 member A1
|
|
gptkbp:function
|
glucuronidation of bilirubin
|
|
gptkbp:hasPolymorphism
|
UGT1A1*28
UGT1A1*6
|
|
gptkbp:HGNC_ID
|
12529
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
UGT1A1
|
|
gptkbp:involvedIn
|
bilirubin metabolism
|
|
gptkbp:length
|
533 amino acids
|
|
gptkbp:locatedOnChromosome
|
2q37
|
|
gptkbp:molecularWeight
|
60 kDa
|
|
gptkbp:mutationAssociatedWith
|
hyperbilirubinemia
|
|
gptkbp:OMIM
|
191740
|
|
gptkbp:orthologInMouse
|
Ugt1a1
|
|
gptkbp:proteinFamily
|
UDP-glucuronosyltransferase family
|
|
gptkbp:regulates
|
bilirubin clearance
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
|
|
gptkbp:UniProtID
|
P22309
|
|
gptkbp:bfsParent
|
gptkb:constitutive_androstane_receptor
|
|
gptkbp:bfsLayer
|
7
|