UGT1A1 L15R [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5604984
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P22309 UGT1A1
Gene Names
UGT1A1, GNT1, UGT1
Chain
signal peptide:1-25, chain:26-533
Reference Genes
COSMIC (genes):UGT1A1 UGT1A1
dbSNP Gene:54658 UGT1A1
ENSEMBL:ENSG00000241635 UGT1A1
Participates
as a member of
Other forms of this molecule
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
UGT1A1 R341* [endoplasmic reticulum membrane]
UGT1A1 G309E [endoplasmic reticulum membrane]
UGT1A1 Q331* [endoplasmic reticulum membrane]
UGT1A1 S376F [endoplasmic reticulum membrane]
UGT1A1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-leucine 15 replaced with L-arginine
Coordinate
15
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to 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
Mondo
Interactors (9)
Cite Us!