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ABCB11 R1057* [plasma membrane]
Stable Identifier
R-HSA-5678521
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Bile salt export pump, ATP-binding cassette sub-family B member 11
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCB11 causes PFIC2 and BRIC2 (Homo sapiens)
Defective ABCB11 does not transport bile salts from cytosol to extracellular region (Homo sapiens)
ABCB11 mutants [plasma membrane] (Homo sapiens)
ABCB11 R1057* [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O95342 ABCB11
Gene Names
ABCB11, BSEP
Chain
chain:1-1321
Reference Genes
BioGPS Gene:8647 ABCB11
COSMIC (genes):ABCB11 ABCB11
CTD Gene:8647 ABCB11
dbSNP Gene:8647 ABCB11
ENSEMBL:ENSG00000073734 ABCB11
HGNC:42 ABCB11
Monarch:8647 ABCB11
NCBI Gene:8647 ABCB11
OMIM:603201 ABCB11
UCSC:O95342 ABCB11
Reference Transcript
RefSeq:NM_003742.2 ABCB11
Other Identifiers
11752143_a_at
16904793
208288_PM_at
208288_at
211224_PM_s_at
211224_s_at
2585963
2585967
2585969
2585970
2585971
2585973
2585974
2585975
2585976
2585977
2585978
2585979
2585980
2585981
2585982
2585984
2585985
2585987
2585988
2585989
2585990
2585991
2585992
2585994
2585995
2585996
2585997
2585998
2585999
2586000
2586002
2586003
2586004
2586006
2586007
2586009
2586010
2586015
31398_at
57426_at
75945_at
76418_at
8056583
8647
A_23_P39703
GE54770
GE905236
GO:0000139
GO:0003824
GO:0005215
GO:0005515
GO:0005524
GO:0005768
GO:0005886
GO:0006629
GO:0006631
GO:0006699
GO:0006805
GO:0006855
GO:0006869
GO:0006979
GO:0008206
GO:0008559
GO:0009410
GO:0009986
GO:0014070
GO:0015125
GO:0015126
GO:0015144
GO:0015432
GO:0015721
GO:0015722
GO:0016020
GO:0016324
GO:0016567
GO:0016787
GO:0016887
GO:0031410
GO:0031998
GO:0034219
GO:0042632
GO:0043226
GO:0043627
GO:0045177
GO:0045471
GO:0046581
GO:0046618
GO:0046691
GO:0055037
GO:0055038
GO:0055085
GO:0055088
GO:0055091
GO:0070062
GO:0071466
GO:0120189
GO:0140359
GO:0140657
GO:1904251
HMNXSV003045408
HMNXSV003049460
ILMN_2232066
PH_hs_0009589
TC02002508.hg
g4502456_3p_at
g4704819_3p_a_at
Participates
as a member of
ABCB11 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
ABCB11 R575* [plasma membrane]
ABCB11 R432T [plasma membrane]
ABCB11 E297G [plasma membrane]
ABCB11 [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 1057
Coordinate
1057
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
intrahepatic cholestasis
DOID:1852
intrahepatic cholestasis of pregnancy
Cross References
ZINC - World Drugs
ABCBB_HUMAN
Guide to Pharmacology - Targets
778
ENSEMBL
ENST00000650372
,
ENSP00000497931
OpenTargets
ENSG00000073734
ZINC - FDA approved
ABCBB_HUMAN
ZINC - Substances
ABCBB_HUMAN
ZINC - Biogenic
ABCBB_HUMAN
ZINC target
O95342
PRO
O95342
GlyGen
O95342
PDB
8PM6
,
8PMD
,
7DV5
,
7E1A
,
8PMJ
,
6LR0
ZINC - Metabolites
ABCBB_HUMAN
HPA
ENSG00000073734-ABCB11
Pharos - Targets
O95342
Orphanet
ABCB11
ZINC - Predictions - Purchasable
ABCBB_HUMAN
HMDB Protein
HMDBP02052
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q96D03 DDT4L
0.556
3
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