UGT1A1 R341* [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5604994
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P22309 UGT1A1
Gene Names
UGT1A1, GNT1, UGT1
Chain
signal peptide:1-25, chain:26-533
Reference Genes
BioGPS Gene:54658 UGT1A1
COSMIC (genes):UGT1A1 UGT1A1
CTD Gene:54658 UGT1A1
dbSNP Gene:54658 UGT1A1
ENSEMBL:ENSG00000241635 UGT1A1
HGNC:12530 UGT1A1
KEGG:hsa:54658 UGT1A1
Monarch:54658 UGT1A1
NCBI Gene:54658 UGT1A1
OMIM:191740 UGT1A6
UCSC:P22309 UGT1A1
Reference Transcript
Participates
as a member of
Other forms of this molecule
UGT1A1 [endoplasmic reticulum membrane]
UGT1A1 S376F [endoplasmic reticulum membrane]
UGT1A1 Q331* [endoplasmic reticulum membrane]
UGT1A1 G309E [endoplasmic reticulum membrane]
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
UGT1A1 L15R [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 341
Coordinate
341
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
Crigler-Najjar syndrome DOID:3803 Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome (disorder), Crigler-Najjar syndrome, Crigler-Najjar syndrome, type I (disorder)
Cross References
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
ZINC - Investigational
ZINC - Metabolites
HPA
GeneCards
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (9)
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