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SLC22A12 G361V [plasma membrane]
Stable Identifier
R-HSA-5625202
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
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) (Homo sapiens)
Defective SLC22A12 does not exchange extracellular urate for cytosolic LACT (Homo sapiens)
SLC22A12 mutants [plasma membrane] (Homo sapiens)
SLC22A12 G361V [plasma membrane] (Homo sapiens)
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
ENSEMBL_homo_sapiens_GENE:ENSG00000197891.12 SLC22A12
HGNC:17989 SLC22A12
KEGG Gene (Homo sapiens):116085 SLC22A12
Monarch:116085 SLC22A12
NCBI Gene:116085 SLC22A12
OMIM:607096 SLC22A12
UCSC:Q96S37 SLC22A12
Reference Transcript
RefSeq:NM_001276327.1 SLC22A12
RefSeq:NM_001276326.1 SLC22A12
RefSeq:NM_153378.2 SLC22A12
RefSeq:NM_144585.3 SLC22A12
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:0005576
GO:0005615
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
GO:0098590
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 W258* [plasma membrane]
SLC22A12 E298D [plasma membrane]
SLC22A12 R90H [plasma membrane]
SLC22A12 L418R [plasma membrane]
SLC22A12 [plasma membrane]
Modified Residues
Name
glycine 361 replaced with L-valine
Coordinate
361
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
acquired metabolic disease
DOID:0060158
Cross References
RefSeq
NP_700357.1
,
NP_001263255.1
,
NP_001263256.1
,
NP_653186.2
ZINC - World Drugs
S22AC_HUMAN
Guide to Pharmacology - Targets
1031
OpenTargets
ENSG00000197891
ZINC - Substances
S22AC_HUMAN
ZINC target
Q96S37
ZINC - Biogenic
S22AC_HUMAN
PRO
Q96S37
ZINC - Metabolites
S22AC_HUMAN
GeneCards
Q96S37
HPA
ENSG00000197891-SLC22A12
Ensembl
ENSP00000366797
,
ENST00000377574
,
ENST00000473690
,
ENSP00000366795
,
ENSP00000336836
,
ENSP00000366790
,
ENSG00000197891
,
ENSP00000438437
,
ENST00000377572
,
ENST00000336464
,
ENST00000377567
Pharos - Targets
Q96S37
Orphanet
17674
ZINC - Predictions - Purchasable
S22AC_HUMAN
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