SLC12A3 T392I [plasma membrane]

Stable Identifier
R-HSA-5623689
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Solute carrier family 12 member 3, S12A3_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P55017 SLC12A3
Gene Names
SLC12A3, NCC, TSC
Chain
chain:1-1021
Reference Genes
BioGPS Gene:6559 SLC12A3
COSMIC (genes):SLC12A3 SLC12A3
CTD Gene:6559 SLC12A3
dbSNP Gene:6559 SLC12A3
ENSEMBL:ENSG00000070915 SLC12A3
ENSEMBL_homo_sapiens_GENE:ENSG00000070915.10 SLC12A3
HGNC:10912 SLC12A3
KEGG Gene (Homo sapiens):6559 SLC12A3
Monarch:6559 SLC12A3
NCBI Gene:6559 SLC12A3
OMIM:600968 SLC12A3
UCSC:P55017 SLC12A3
Reference Transcript
Other Identifiers
11725269_at
11725270_at
16819297
208354_PM_s_at
208354_s_at
215274_PM_at
215274_at
231634_PM_at
231634_at
36362_at
3662337
3662338
3662339
3662341
3662343
3662344
3662345
3662346
3662347
3662348
3662349
3662350
3662351
3662352
3662353
3662354
3662355
3662356
3662357
3662358
3662359
3662361
3662362
3662365
3662366
3662367
3662369
3662370
3662378
3662379
3662383
3662384
6559
77518_at
7995868
A_14_P111737
A_23_P77653
A_24_P309912
A_32_P108066
GE60138
GO:0000166
GO:0002021
GO:0003014
GO:0005215
GO:0005515
GO:0005524
GO:0005576
GO:0005615
GO:0005829
GO:0005886
GO:0006811
GO:0006814
GO:0006884
GO:0007165
GO:0008511
GO:0015081
GO:0015293
GO:0015377
GO:0015378
GO:0016020
GO:0016324
GO:0022857
GO:0023052
GO:0035725
GO:0043226
GO:0046873
GO:0055064
GO:0055065
GO:0055075
GO:0055078
GO:0055085
GO:0070062
GO:0070294
GO:0071241
GO:1901702
GO:1902476
GO:1904044
GO:1990573
HMNXSV003031024
Hs.158462.1.S1_3p_at
Hs.170789.0.A1_3p_at
ILMN_1679011
PH_hs_0009611
PH_hs_0010216
TC16000479.hg
X91220_at
g4506976_3p_a_at
Participates
as a member of
Other forms of this molecule
SLC12A3 T60M [plasma membrane]
SLC12A3 L850P [plasma membrane]
SLC12A3 E121D [plasma membrane]
SLC12A3 [plasma membrane]
SLC12A3 L272P [plasma membrane]
SLC12A3 G741R [plasma membrane]
Modified Residues
Name
L-threonine 392 replaced with L-isoleucine
Coordinate
392
PsiMod
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name Identifier Synonyms
Gitelman syndrome DOID:0050450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Cross References
RefSeq
Guide to Pharmacology - Targets
970
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
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