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UGT1A1 Q331* [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5605030
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 Q331* [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 Q331* [endoplasmic reticulum membrane] (Homo sapiens)
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
RefSeq:NM_000463.2 UGT1A1
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
UGT1A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
UGT1A1 [endoplasmic reticulum membrane]
UGT1A1 S376F [endoplasmic reticulum membrane]
UGT1A1 G309E [endoplasmic reticulum membrane]
UGT1A1 R341* [endoplasmic reticulum membrane]
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
UGT1A1 L15R [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-glutamine 331
Coordinate
331
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
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
NP_000454.1
ZINC - World Drugs
UD11_HUMAN
Guide to Pharmacology - Targets
2990
OpenTargets
ENSG00000241635
ZINC - FDA approved
UD11_HUMAN
ZINC - Substances
UD11_HUMAN
ZINC target
P22309
ZINC - Biogenic
UD11_HUMAN
PRO
P22309
ZINC - Investigational
UD11_HUMAN
ZINC - Metabolites
UD11_HUMAN
GeneCards
P22309
HPA
ENSG00000241635-UGT1A1
Ensembl
ENST00000360418
,
ENSP00000304845
,
ENSP00000353593
,
ENSG00000241635
,
ENST00000305208
Pharos - Targets
P22309
Orphanet
15683
ZINC - Predictions - Purchasable
UD11_HUMAN
HMDB Protein
HMDBP00483
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:P22309 UGT1A1
7
UGT1A1 [endoplasmic reticulum membrane]
(R-HSA-159156)
UGT1A1 S376F [endoplasmic reticulum membrane]
(R-HSA-5604983)
UGT1A1 Q331* [endoplasmic reticulum membrane]
(R-HSA-5605030)
UGT1A1 G309E [endoplasmic reticulum membrane]
(R-HSA-5604963)
UGT1A1 R341* [endoplasmic reticulum membrane]
(R-HSA-5604994)
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
(R-HSA-5604959)
UGT1A1 L15R [endoplasmic reticulum membrane]
(R-HSA-5604984)
0.471
2
UniProt:O60656 UGT1A9
1
UGT1A9 [endoplasmic reticulum membrane]
(R-HSA-400210)
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:P35503 UGT1A3
1
UGT1A3 [endoplasmic reticulum membrane]
(R-HSA-174928)
0.471
2
UniProt:P19224 UGT1A6
1
UGT1A6 [endoplasmic reticulum membrane]
(R-HSA-158597)
0.471
2
UniProt:Q9HAW8 UGT1A10
1
UGT1A10 [endoplasmic reticulum membrane]
(R-HSA-8933307)
0.471
2
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