Reactome | SLC22A18 R286H [plasma membrane]

SLC22A18 R286H [plasma membrane]

Stable Identifier

R-HSA-5625583

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

ORCTL2, Organic cation transporter-like protein 2, Solute carrier family 22 member 18, S22AI_HUMAN

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q96BI1 SLC22A18

Gene Names

SLC22A18, BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5

Chain

chain:1-424

Reference Genes

BioGPS Gene:5002 SLC22A18

COSMIC (genes):SLC22A18 SLC22A18

CTD Gene:5002 SLC22A18

dbSNP Gene:5002 SLC22A18

ENSEMBL:ENSG00000110628 SLC22A18

HGNC:10964 SLC22A18

KEGG:hsa:5002 SLC22A18

Monarch:5002 SLC22A18

NCBI Gene:5002 SLC22A18

OMIM:602631 SLC22A18

UCSC:Q96BI1 SLC22A18

Reference Transcript

Other Identifiers

11756459_a_at

16720959

204981_PM_at

204981_at

3317521

3317522

3317523

3317524

3317525

3317526

3317527

3317528

3317529

3317530

3317531

3317532

3317533

3317534

3317536

3317537

3317538

3317539

3317540

3317541

3317542

3317543

3317544

3317545

3317546

3317547

3317548

3317549

3317550

39992_at

5002

7937852

A_14_P106963

A_14_P200283

A_23_P127868

A_23_P139260

GE54233

GO:0005215

GO:0005515

GO:0005635

GO:0005737

GO:0005886

GO:0006811

GO:0015293

GO:0015695

GO:0016020

GO:0016324

GO:0022857

GO:0031625

GO:0042908

GO:0042910

GO:0055085

GO:1990961

HMNXSV003035989

ILMN_1693509

ILMN_1724902

ILMN_2382505

PH_hs_0003513

TC11000069.hg

g4505526_3p_at

Participates

as a member of

SLC22A18 mutants [plasma membrane] (Homo sapiens)

Other forms of this molecule

SLC22A18 S233F [plasma membrane]

SLC22A18 [plasma membrane]

Modified Residues

Name

L-arginine 286 replaced with L-histidine

Coordinate

286

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

L-histidine residue [MOD:00018]

A protein modification that effectively converts a source amino acid residue to an L-histidine.

Disease

Name	Identifier	Synonyms
rhabdomyosarcoma	DOID:3247	Rhabdomyosarcoma NOS (morphologic abnormality), rhabdomyosarcoma, Rhabdomyosarcoma, no subtype (morphologic abnormality), rhabdomyoblastoma, Rhabdomyosarcoma (disorder)

Cross References

Guide to Pharmacology - Targets

1036

ENSEMBL

ENST00000649076, ENST00000380574, ENSP00000369948, ENSP00000497561, ENSP00000307859, ENST00000347936

OpenTargets

ENSG00000110628

HPA

ENSG00000110628-SLC22A18

PRO

Q96BI1

Pharos - Targets

Q96BI1

Orphanet

SLC22A18

Interactors (9)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q96MV1 TLCD4			0.556	3
UniProt:Q99801 NKX31			0.556	3
UniProt:Q9Y320 TMX2			0.556	3
UniProt:Q8NBQ5 HSD17B11	1	HSD17B11 [cytosol] (R-HSA-5693370)	0.556	3
UniProt:Q96G30 MRAP2			0.527	2
UniProt:P20036 HLA-DPA1	9	HLA class II histocompatibility antigen, DP alpha chain precursor [plasma membrane] (R-HSA-197586) HLA class II histocompatibility antigen, DP alpha chain precursor [lysosomal membrane] (R-HSA-2130639) HLA class II histocompatibility antigen, DP alpha chain precursor [endocytic vesicle membrane] (R-HSA-2130435) HLA class II histocompatibility antigen, DP alpha chain precursor [clathrin-coated endocytic vesicle membrane] (R-HSA-2130485) HLA class II histocompatibility antigen, DP alpha chain precursor [transport vesicle membrane] (R-HSA-2130648) HLA class II histocompatibility antigen, DP alpha chain precursor [trans-Golgi network membrane] (R-HSA-2130337) HLA class II histocompatibility antigen, DP alpha chain precursor [Golgi membrane] (R-HSA-2214387) HLA class II histocompatibility antigen, DP alpha chain precursor [ER to Golgi transport vesicle membrane] (R-HSA-2130739) HLA class II histocompatibility antigen, DP alpha chain precursor [lumenal side of endoplasmic reticulum membrane] (R-HSA-2130667)	0.527	2
UniProt:Q9ULX7 CA14	1	CA14 [plasma membrane] (R-HSA-1237018)	0.527	3
UniProt:P02724 GYPA	1	GYPA [plasma membrane] (R-HSA-8867204)	0.527	2
UniProt:Q8TDQ0 HAVCR2	1	HAVCR2 [plasma membrane] (R-HSA-5340408)	0.527	2