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UGT1A4 S376F [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5605025
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 UGT1A4 causes hyperbilirubinemia (Homo sapiens)
Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL (Homo sapiens)
UGT1A4 S376F [endoplasmic reticulum membrane] (Homo sapiens)
Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BMG (Homo sapiens)
UGT1A4 S376F [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P22310 UGT1A4
Gene Names
UGT1A4, GNT1, UGT1
Chain
signal peptide:1-28, chain:29-534
Reference Genes
BioGPS Gene:54657 UGT1A4
COSMIC (genes):UGT1A4 UGT1A4
CTD Gene:54657 UGT1A4
dbSNP Gene:54657 UGT1A4
ENSEMBL:ENSG00000244474 UGT1A4
ENSEMBL_homo_sapiens_GENE:ENSG00000244474.6 UGT1A4
HGNC:12536 UGT1A4
KEGG Gene (Homo sapiens):54657 UGT1A4
Monarch:54657 UGT1A4
NCBI Gene:54657 UGT1A4
OMIM:606429 UGT1A4
UCSC:P22310 UGT1A4
Reference Transcript
RefSeq:NM_007120.2 UGT1A4
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
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
2533089
2533090
2533094
2533095
2533096
2533097
2533098
2533103
2533104
2533110
2533112
2533123
2533124
2533125
2533126
2533127
2533130
2533131
2533132
32392_s_at
54657
A_14_P126070
A_24_P222872
A_33_P3302075
GE57499
GO:0003824
GO:0005783
GO:0005789
GO:0005975
GO:0006629
GO:0006766
GO:0006789
GO:0008194
GO:0015020
GO:0016020
GO:0016740
GO:0016757
GO:0019899
GO:0042167
GO:0042803
GO:0043226
GO:0045922
GO:0046982
GO:0052695
GO:0070640
GO:1904224
GO:2001030
HMNXSV003022273
Hs.2056.1.S1_3p_s_at
ILMN_1697967
J04093_s_at
PH_hs_0031610
TC02003895.hg
g13487899_3p_s_at
Other forms of this molecule
UGT1A4 [endoplasmic reticulum membrane]
Modified Residues
Name
L-serine 376 replaced with L-phenylalanine
Coordinate
376
PsiMod
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
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_009051.1
ZINC - World Drugs
UD14_HUMAN
OpenTargets
ENSG00000244474
ZINC - FDA approved
UD14_HUMAN
ZINC - Substances
UD14_HUMAN
ZINC target
P22310
PRO
P22310
IntEnz
2.4.1.17
HPA
ENSG00000244474-UGT1A4
GeneCards
P22310
Ensembl
ENSG00000244474
,
ENST00000450233
,
ENSP00000408608
,
ENSP00000362508
,
ENST00000373409
Pharos - Targets
P22310
ZINC - Predictions - Purchasable
UD14_HUMAN
HMDB Protein
HMDBP00478
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P22310 UGT1A4
2
UGT1A4 S376F [endoplasmic reticulum membrane]
(R-HSA-5605025)
UGT1A4 [endoplasmic reticulum membrane]
(R-HSA-159157)
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
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