SLC12A1 R302Q [plasma membrane]

Stable Identifier
R-HSA-5623568
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Solute carrier family 12 member 1, S12A1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC12A1, NKCC2
Chain
chain:1-1099
Other Identifiers
0003140167
11728243_a_at
11728244_s_at
11750832_a_at
11752597_a_at
16800785
220281_at
34516_at
3593057
3593066
3593067
3593068
3593072
3593073
3593078
3593079
3593083
3593086
3593087
3593088
3593089
3593090
3593096
3593099
3593102
3593105
3593108
3593110
3593111
3593112
3593116
3593117
3593118
3593119
3593121
3593126
3593128
3593129
3593132
3593133
3593135
3593136
3593137
3593139
6557
7983564
90622_at
A_14_P139871
A_14_P139923
A_23_P99879
A_24_P136029
A_33_P3282454
GE59257
GO:0003674
GO:0005575
GO:0005576
GO:0005615
GO:0005886
GO:0006810
GO:0006811
GO:0006813
GO:0006814
GO:0006884
GO:0008150
GO:0008511
GO:0015081
GO:0015293
GO:0015377
GO:0015378
GO:0015379
GO:0016020
GO:0016021
GO:0016324
GO:0022857
GO:0034220
GO:0035725
GO:0042592
GO:0043226
GO:0055064
GO:0055075
GO:0055078
GO:0055085
GO:0070062
GO:1902476
GO:1990573
Hs.123116.0.S2_3p_at
Hs2.123116.2.A1_3p_s_at
ILMN_1688162
PH_hs_0006904
TC15002797.hg
U58130_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 302 replaced with L-glutamine
Coordinate
302
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
Bartter disease 445 Aldosteronism with hyperplasia of the adrenal cortex, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome
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