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UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5604959
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective UGT1A1 causes hyperbilirubinemia (Homo sapiens)
Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL (Homo sapiens)
UGT1A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane] (Homo sapiens)
Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG (Homo sapiens)
UGT1A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
1634606
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient
Owens, IS
,
Ritter, JK
,
Ferreira, P
,
Yeatman, MT
J. Clin. Invest.
1992
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
UGT1A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
UGT1A1 L15R [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
Replacement of residues 293 to 360 by MENMELWFSLWDQWSQKFQRRKLWQLLMLWAKSLRQSCGGTLEPDHRILRTTRYLLSGYPKTICLVTR
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
ClinGen
CA122006
Interactors (9)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9BSJ8 ESYT1
2
ESYT1 [plasma membrane]
(R-HSA-9715081)
ESYT1 [endoplasmic reticulum membrane]
(R-HSA-8857672)
0.499
2
UniProt:Q9HAW7 UGT1A7
1
UGT1A7 [endoplasmic reticulum membrane]
(R-HSA-174927)
0.471
2
UniProt:Q9HAW9 UGT1A8
1
UGT1A8 [endoplasmic reticulum membrane]
(R-HSA-174925)
0.471
2
UniProt:P35503 UGT1A3
1
UGT1A3 [endoplasmic reticulum membrane]
(R-HSA-174928)
0.471
2
UniProt:P22309 UGT1A1
7
UGT1A1 L15R [endoplasmic reticulum membrane]
(R-HSA-5604984)
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
(R-HSA-5604959)
UGT1A1 R341* [endoplasmic reticulum membrane]
(R-HSA-5604994)
UGT1A1 G309E [endoplasmic reticulum membrane]
(R-HSA-5604963)
UGT1A1 Q331* [endoplasmic reticulum membrane]
(R-HSA-5605030)
UGT1A1 S376F [endoplasmic reticulum membrane]
(R-HSA-5604983)
UGT1A1 [endoplasmic reticulum membrane]
(R-HSA-159156)
0.471
2
UniProt:Q9HAW8 UGT1A10
1
UGT1A10 [endoplasmic reticulum membrane]
(R-HSA-8933307)
0.471
2
UniProt:P22310 UGT1A4
2
UGT1A4 S376F [endoplasmic reticulum membrane]
(R-HSA-5605025)
UGT1A4 [endoplasmic reticulum membrane]
(R-HSA-159157)
0.471
2
UniProt:O60656 UGT1A9
1
UGT1A9 [endoplasmic reticulum membrane]
(R-HSA-400210)
0.471
2
UniProt:P19224 UGT1A6
1
UGT1A6 [endoplasmic reticulum membrane]
(R-HSA-158597)
0.471
2
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