Reactome | SLCO1B1 R253* [plasma membrane]

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

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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):LST1 SLCO1B1

COSMIC (genes):SLCO1B1 SLCO1B1

CTD Gene:10599 SLCO1B1

dbSNP Gene:10599 SLCO1B1

ENSEMBL:ENSG00000134538 SLCO1B1

HGNC:10959 SLCO1B1

KEGG:hsa: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 [plasma membrane]

SLCO1B1 R580* [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

ENSEMBL

ENSG00000134538, ENST00000256958, ENSP00000256958

ZINC - FDA approved

SO1B1_HUMAN

ZINC - Substances

SO1B1_HUMAN

ZINC - Biogenic

SO1B1_HUMAN

ZINC target

Q9Y6L6

PRO

Q9Y6L6

GlyGen

Q9Y6L6

PDB

8HNC, 8K6L, 8HNH, 8PHW, 8HNB, 8HND

ZINC - Investigational

SO1B1_HUMAN

ZINC - Metabolites

SO1B1_HUMAN

HPA

ENSG00000134538-SLCO1B1

GeneCards

SLCO1B1

Pharos - Targets

Q9Y6L6

Orphanet

SLCO1B1

ZINC - Predictions - Purchasable

SO1B1_HUMAN

HMDB Protein

HMDBP00454

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O43760 SNG2			0.527	2
UniProt:O60763 USO1	5	USO1 [transport vesicle] (R-HSA-6808817) USO1 [ER to Golgi transport vesicle membrane] (R-HSA-2311338) USO1 [Golgi membrane] (R-HSA-2167936) USO1 [microtubule organizing center] (R-HSA-9646385) USO1 [cytosol] (R-HSA-5685737)	0.527	2
UniProt:Q6NZ67 MZT2B	1	MZT2B [cytosol] (R-HSA-8955057)	0.527	2
UniProt:Q9NPD5 SLCO1B3	2	SLCO1B3 I562* [plasma membrane] (R-HSA-5661201) SLCO1B3 [plasma membrane] (R-HSA-194075)	0.527	3
UniProt:Q53FV1 ORMDL2	1	ORMDL2 [endoplasmic reticulum membrane] (R-HSA-8865591)	0.527	2
UniProt:Q15836 VAMP3	6	VAMP3 [recycling endosome membrane] (R-HSA-2029063) VAMP3 [phagocytic vesicle membrane] (R-HSA-2029013) VAMP3 [plasma membrane] (R-HSA-8867599) VAMP3 [trans-Golgi network membrane] (R-HSA-6814624) VAMP3 [transport vesicle] (R-HSA-6814625) VAMP3 [clathrin-coated endocytic vesicle membrane] (R-HSA-8869130)	0.527	2