UGT1A1 S376F [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5604983
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
BioGPS Gene:54658 UGT1A1
COSMIC (genes):UGT1A1 UGT1A1
CTD Gene:54658 UGT1A1
dbSNP Gene:54658 UGT1A1
ENSEMBL:ENSG00000241635 UGT1A1
ENSEMBL_homo_sapiens_GENE:ENSG00000241635 UGT1A1
HGNC:12530 UGT1A1
KEGG Gene (Homo sapiens):54658 UGT1A1
Monarch:54658 UGT1A1
NCBI Gene:54658 UGT1A1
OMIM:191740 UGT1A1
Reference Transcript
Other Identifiers
0004850152
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_x_at
206094_x_at
207126_x_at
208596_s_at
215125_s_at
2533119
2533120
2533123
2533124
2533125
2533126
2533127
2533128
2533130
2533131
2533132
32392_s_at
42708_at
54658
A_14_P126070
A_24_P222872
A_33_P3302075
AAA61247
AAA61248
AAA63195
AAF03522
AAG30424
AAI28415
AAI28416
AAR95637
AAS99732
ABC88474
ABC96771
AC006985
AF297093
AFH35129
AFN10616
AK290834
AY435136
AY603772
BAA25600
BAF83523
BC128414
BC128415
CCDS2510
CH471063
D87674
DQ364247
DQ374395
EAW71053
ENSG00000241635
ENSP00000304845
ENSP00000353593
ENST00000305208
ENST00000305208.9
ENST00000360418
ENST00000360418.4
EntrezGene:54658
g13487899_3p_s_at
GE57499
GO:0001889
GO:0001972
GO:0003674
GO:0004857
GO:0005496
GO:0005575
GO:0005783
GO:0005789
GO:0005887
GO:0005975
GO:0006629
GO:0006789
GO:0006950
GO:0006953
GO:0007584
GO:0008150
GO:0008194
GO:0008202
GO:0008210
GO:0008289
GO:0009056
GO:0010033
GO:0014070
GO:0015020
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0016758
GO:0017144
GO:0019899
GO:0030234
GO:0031100
GO:0032496
GO:0032870
GO:0032991
GO:0034641
GO:0034663
GO:0042167
GO:0042493
GO:0042573
GO:0042594
GO:0042803
GO:0043086
GO:0043167
GO:0043226
GO:0043231
GO:0044281
GO:0045471
GO:0045939
GO:0046483
GO:0046982
GO:0048545
GO:0048856
GO:0051186
GO:0051384
GO:0051552
GO:0052695
GO:0052696
GO:0052697
GO:0070069
GO:0070980
GO:0071361
GO:0071385
GO:0071392
GO:0071466
HGNC:12530
Hs.2056.1.S1_3p_s_at
ILMN_1744817
IPR002213
IPR035595
J04093_s_at
JQ686667
JQ699640
LRG_733
M57899
M84122
M84123
M84124
M84125
MIM:143500
MIM:191740
MIM:218800
MIM:237900
MIM:601816
MIM:606785
NM_000463
NP_000454
PF00201
PH_hs_0031610
Q5DT03
UGT1A1
UGT1A1-201
UGT1A1-202
UPI00000000C2
UPI0001895B87
Participant Of
hasMember
Other forms of this molecule
UGT1A1 L15R [endoplasmic reticulum membrane]
UGT1A1 del294-297 [endoplasmic reticulum membrane]
UGT1A1 R341* [endoplasmic reticulum membrane]
UGT1A1 G309E [endoplasmic reticulum membrane]
UGT1A1 Q331* [endoplasmic reticulum membrane]
UGT1A1 [endoplasmic reticulum membrane]
Modified Residues
Name
L-serine 376 replaced with L-phenylalanine
Coordinate
376
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
Disease
Name Identifier Synonyms
Crigler-Najjar syndrome 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
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
ZINC - Metabolites
GeneCards
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein