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
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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
BioGPS Gene:54658 UGT1A1
COSMIC (genes):UGT1A1 UGT1A1
CTD Gene:54658 UGT1A1
dbSNP Gene:54658 UGT1A1
ENSEMBL:ENSG00000241635 UGT1A1
ENSEMBL_homo_sapiens_GENE:ENSG00000241635.8 UGT1A1
HGNC:12530 UGT1A1
KEGG Gene (Homo sapiens):54658 UGT1A1
Monarch:54658 UGT1A1
NCBI Gene:54658 UGT1A1
OMIM:191740 UGT1A1
Reference Transcript
Other Identifiers
11718163_a_at
11724282_a_at
11732106_a_at
11741369_a_at
11747457_x_at
11748219_a_at
11750410_a_at
11752269_a_at
11760469_at
204532_PM_x_at
204532_x_at
206094_PM_x_at
206094_x_at
207126_PM_x_at
207126_x_at
208596_PM_s_at
208596_s_at
215125_PM_s_at
215125_s_at
2533119
2533120
2533123
2533124
2533125
2533126
2533127
2533128
2533129
2533130
2533131
2533132
32392_s_at
42708_at
54658
8049349
A_14_P126070
A_24_P222872
A_33_P3302075
GE57499
GO:0001889
GO:0001972
GO:0003824
GO:0004857
GO:0005496
GO:0005737
GO:0005783
GO:0005789
GO:0005886
GO:0005975
GO:0006629
GO:0006789
GO:0006805
GO:0006953
GO:0006954
GO:0007584
GO:0008194
GO:0008202
GO:0008210
GO:0008289
GO:0009410
GO:0010033
GO:0014070
GO:0015020
GO:0016020
GO:0016740
GO:0016757
GO:0019899
GO:0031100
GO:0032496
GO:0032870
GO:0034663
GO:0042573
GO:0042594
GO:0042803
GO:0043226
GO:0045471
GO:0045922
GO:0045939
GO:0046483
GO:0046982
GO:0048471
GO:0048545
GO:0048856
GO:0051384
GO:0051552
GO:0052695
GO:0052696
GO:0052697
GO:0070069
GO:0070980
GO:0071361
GO:0071385
GO:0071392
GO:0071466
GO:0098772
GO:1904224
GO:2001030
HMNXSV003022273
Hs.2056.1.S1_3p_s_at
ILMN_1744817
J04093_s_at
PH_hs_0031610
TC02003895.hg
g13487899_3p_s_at
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 R341* [endoplasmic reticulum membrane]
UGT1A1 L15R [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
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
ZINC - Investigational
ZINC - Metabolites
HPA
GeneCards
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (8)
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