ABCB4 A546D [plasma membrane]

Stable Identifier
R-HSA-5678948
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Multidrug resistance protein 3, MDR3_HUMAN
Icon
ABCB4 A546D [plasma membrane] icon
ABCB4 A546D [plasma membrane] icon
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P21439 ABCB4
Gene Names
ABCB4, MDR3, PGY3
Chain
chain:1-1286
Reference Genes
BioGPS Gene:5244 ABCB4
COSMIC (genes):ABCB4 ABCB4
CTD Gene:5244 ABCB4
dbSNP Gene:5244 ABCB4
ENSEMBL:ENSG00000005471 ABCB4
ENSEMBL_homo_sapiens_GENE:ENSG00000005471.19 ABCB4
HGNC:45 ABCB4
KEGG Gene (Homo sapiens):5244 ABCB4
Monarch:5244 ABCB4
NCBI Gene:5244 ABCB4
OMIM:171060 ABCB4
UCSC:P21439 ABCB4
Reference Transcript
Other Identifiers
11732819_a_at
1576_g_at
17059451
207819_PM_s_at
207819_s_at
209994_PM_s_at
209994_s_at
3060118
3060119
3060120
3060121
3060124
3060125
3060127
3060128
3060130
3060131
3060132
3060134
3060135
3060136
3060137
3060138
3060139
3060140
3060141
3060144
3060145
3060146
3060147
3060148
3060149
3060150
3060152
3060153
3060154
3060155
3060157
3060160
3060161
3060162
3060189
33978_at
5244
8140752
A_23_P123112
A_33_P3336760
GE82449
GO:0000166
GO:0003824
GO:0005215
GO:0005515
GO:0005524
GO:0005548
GO:0005576
GO:0005615
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0005925
GO:0006629
GO:0006869
GO:0016020
GO:0016324
GO:0016787
GO:0016887
GO:0030136
GO:0031410
GO:0032376
GO:0032782
GO:0042626
GO:0043226
GO:0045121
GO:0045332
GO:0046581
GO:0055085
GO:0055088
GO:0061024
GO:0061092
GO:0070062
GO:0090554
GO:0140326
GO:0140359
GO:0140657
GO:1901557
GO:1903413
GO:2001140
HMNXSV003034000
ILMN_1767349
M23234_s_at
PH_hs_0004217
TC07001578.hg
g9961253_3p_a_at
g9961253_3p_s_at
Participates
as a member of
Other forms of this molecule
ABCB4 P1161S [plasma membrane]
ABCB4 R590Q [plasma membrane]
ABCB4 Y403H [plasma membrane]
ABCB4 R957* [plasma membrane]
ABCB4 V571Dfs*16 [plasma membrane]
ABCB4 T175V [plasma membrane]
ABCB4 R545G [plasma membrane]
ABCB4 [plasma membrane]
ABCB4 R144* [plasma membrane]
Modified Residues
Name
L-alanine 546 replaced with L-aspartic acid
Coordinate
546
PsiMod
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Disease
Name Identifier Synonyms
intrahepatic cholestasis DOID:1852 intrahepatic cholestasis of pregnancy
Cross References
RefSeq
Guide to Pharmacology - Targets
771
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
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