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SLCO1B1 R253* [plasma membrane]
Stable Identifier
R-HSA-5661200
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
OATP-C, Solute carrier organic anion transporter family member 1B1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) (Homo sapiens)
Defective SLCO1B1 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte) (Homo sapiens)
SLCO1B1 mutants [plasma membrane] (Homo sapiens)
SLCO1B1 R253* [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9Y6L6 SLCO1B1
Gene Names
SLCO1B1, LST1, OATP1B1, OATP2, OATPC, SLC21A6
Chain
chain:1-691
Reference Genes
BioGPS Gene:10599 SLCO1B1
COSMIC (genes):SLCO1B1 SLCO1B1
CTD Gene:10599 SLCO1B1
dbSNP Gene:10599 SLCO1B1
ENSEMBL:ENSG00000134538 SLCO1B1
ENSEMBL_homo_sapiens_GENE:ENSG00000134538.3 SLCO1B1
HGNC:10959 SLCO1B1
KEGG Gene (Homo sapiens):10599 SLCO1B1
Monarch:10599 SLCO1B1
NCBI Gene:10599 SLCO1B1
OMIM:604843 SLCO1B1
UCSC:Q9Y6L6 SLCO1B1
Reference Transcript
RefSeq:NM_006446.4 SLCO1B1
Other Identifiers
10599
11739848_at
16749077
210366_PM_at
210366_at
3407646
3407685
3407708
3407710
3407711
3407713
3407715
3407716
3407717
3407718
3407719
3407720
3407723
3407724
3407725
3407726
3407729
3407732
3407733
3407734
3407735
3407739
3407740
3407741
3407745
35570_at
7954356
A_14_P114848
A_23_P128254
GE55225
GO:0005215
GO:0005515
GO:0005886
GO:0006805
GO:0006811
GO:0006869
GO:0008514
GO:0009925
GO:0015125
GO:0015132
GO:0015347
GO:0015349
GO:0015711
GO:0015721
GO:0015732
GO:0016020
GO:0016323
GO:0022857
GO:0042167
GO:0043252
GO:0055085
GO:0070327
HMNXSV003014356
ILMN_1771118
ILMN_2084745
PH_hs_0038723
TC12002283.hg
TC12003240.hg
g5006264_3p_at
Participates
as a member of
SLCO1B1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLCO1B1 R580* [plasma membrane]
SLCO1B1 [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 253
Coordinate
253
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
bilirubin metabolic disorder
DOID:2741
hyperbilirubinemia, hereditary hyperbilirubinemia
Cross References
RefSeq
NP_006437.3
ZINC - World Drugs
SO1B1_HUMAN
Guide to Pharmacology - Targets
1220
OpenTargets
ENSG00000134538
ZINC - FDA approved
SO1B1_HUMAN
ZINC - Substances
SO1B1_HUMAN
ZINC target
Q9Y6L6
ZINC - Biogenic
SO1B1_HUMAN
PRO
Q9Y6L6
PDB
8HND
,
8HNB
,
8PHW
,
8HNC
,
8HNH
,
8K6L
ZINC - Investigational
SO1B1_HUMAN
ZINC - Metabolites
SO1B1_HUMAN
HPA
ENSG00000134538-SLCO1B1
GeneCards
Q9Y6L6
Ensembl
ENSP00000256958
,
ENSG00000134538
,
ENST00000256958
Pharos - Targets
Q9Y6L6
Orphanet
19458
ZINC - Predictions - Purchasable
SO1B1_HUMAN
HMDB Protein
HMDBP00454
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