Reactome | SLC22A12 R90H [plasma membrane]

SLC22A12 R90H [plasma membrane]

Stable Identifier

R-HSA-5625225

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

URAT1, Urate transporter 1, Solute carrier family 22 member 12, S22AC_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q96S37 SLC22A12

Gene Names

SLC22A12, OATL4, URAT1, UNQ6453/PRO34004

Chain

chain:1-553

Reference Genes

BioGPS Gene:116085 SLC22A12

COSMIC (genes):SLC22A12 SLC22A12

CTD Gene:116085 SLC22A12

dbSNP Gene:116085 SLC22A12

ENSEMBL:ENSG00000197891 SLC22A12

HGNC:17989 SLC22A12

KEGG:hsa:116085 SLC22A12

Monarch:116085 SLC22A12

NCBI Gene:116085 SLC22A12

OMIM:607096 SLC22A12

UCSC:Q96S37 SLC22A12

Reference Transcript

Other Identifiers

116085

11728625_a_at

16726549

237799_PM_at

237799_at

3334660

3334661

3334662

3334663

3334665

3334666

3334668

3334669

3334670

3334671

3334672

3334673

3334674

3334675

3334676

3334677

3334679

7941074

84833_at

A_14_P120448

A_23_P35809

A_33_P3316721

GE79878

GE860245

GO:0003014

GO:0005215

GO:0005886

GO:0006811

GO:0009410

GO:0015143

GO:0015711

GO:0015747

GO:0016020

GO:0016324

GO:0019725

GO:0022857

GO:0030165

GO:0031526

GO:0032869

GO:0043226

GO:0046415

GO:0055085

GO:0070062

GO:0097744

HMNXSV003003970

HMNXSV003015593

HMNXSV003017553

Hs.174424.0.A1_3p_at

ILMN_1662154

ILMN_1766083

ILMN_2408748

PH_hs_0010446

TC11000606.hg

Participates

as a member of

SLC22A12 mutants [plasma membrane] (Homo sapiens)

Other forms of this molecule

SLC22A12 [plasma membrane]

SLC22A12 L418R [plasma membrane]

SLC22A12 G361V [plasma membrane]

SLC22A12 E298D [plasma membrane]

SLC22A12 W258* [plasma membrane]

Modified Residues

Name

L-arginine 90 replaced with L-histidine

Coordinate

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
acquired metabolic disease	DOID:0060158

Cross References

ZINC - World Drugs

S22AC_HUMAN

Guide to Pharmacology - Targets

1031

OpenTargets

ENSG00000197891

ENSEMBL

ENST00000377572, ENST00000377574, ENST00000473690, ENSP00000366795, ENSP00000366797, ENSP00000438437, ENSP00000366790, ENST00000336464, ENSP00000336836, ENST00000377567

ZINC - Substances

S22AC_HUMAN

ZINC - Biogenic

S22AC_HUMAN

ZINC target

Q96S37

PRO

Q96S37

GlyGen

Q96S37

ZINC - Metabolites

S22AC_HUMAN

HPA

ENSG00000197891-SLC22A12

Pharos - Targets

Q96S37

ZINC - Predictions - Purchasable

S22AC_HUMAN

Orphanet

SLC22A12

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