SLC12A3 E121D

Stable Identifier
R-HSA-5623713
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Solute carrier family 12 member 3, S12A3_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC12A3, NCC, TSC
Chain
chain:1-1021
Other Identifiers
0004810025
11725269_at
11725270_at
16819297
208354_s_at
215274_at
231634_at
28748
36362_at
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
6559
77518_at
7995868
A_14_P111737
A_23_P77653
A_24_P309912
A_32_P108066
AAC50355
AC012181
AK315298
CAA62613
CCDS10770
CCDS45491
CCDS58464
ENSG00000070915
ENSP00000402152
ENSP00000456149
ENSP00000457552
ENST00000438926
ENST00000563236
ENST00000566786
EntrezGene:6559
g4506976_3p_a_at
GE60138
GO:0003674
GO:0005215
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006814
GO:0008150
GO:0015293
GO:0015377
GO:0015378
GO:0016020
GO:0016021
GO:0016324
GO:0022857
GO:0035725
GO:0043226
GO:0055085
GO:0070062
GO:1902476
HGNC:10912
HPA028748
Hs.158462.1.S1_3p_at
Hs.170789.0.A1_3p_at
ILMN_1679011
IPR002948
IPR004841
IPR004842
IPR013612
IPR018491
MIM:263800
MIM:600968
NM_000339
NM_001126107
NM_001126108
NP_000330
NP_001119579
NP_001119580
PF00324
PF03522
PF08403
PH_hs_0009611
PH_hs_0010216
PR01230
SLC12A3
SLC12A3-202
SLC12A3-203
SLC12A3-205
TC16000479.hg
U44128
uc002ekd.4
uc010ccm.4
uc010ccn.4
UPI00001FF243
UPI00005782C2
UPI0001AE6793
X91220
X91220_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamic acid 121 replaced with L-aspartic acid
Coordinate
121
PsiMod HEY
A protein modification that effectively removes or replaces an L-glutamic acid.
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
Gitelman syndrome 0050450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Cross References
GeneCards
PRO
Orphanet
HMDB Protein