SLC12A1 W625* [plasma membrane]

Stable Identifier
R-HSA-5623580
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Solute carrier family 12 member 1, S12A1_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q13621 SLC12A1
Gene Names
SLC12A1, NKCC2
Chain
chain:1-1099
Reference Genes
BioGPS Gene:6557 SLC12A1
COSMIC (genes):SLC12A1 SLC12A1
CTD Gene:6557 SLC12A1
dbSNP Gene:6557 SLC12A1
ENSEMBL:ENSG00000074803 SLC12A1
HGNC:10910 SLC12A1
KEGG:hsa:6557 SLC12A1
Monarch:6557 SLC12A1
NCBI Gene:6557 SLC12A1
OMIM:600839 SLC12A1
UCSC:Q13621 SLC12A1
Reference Transcript
Other Identifiers
11728243_a_at
11728244_s_at
11750832_a_at
11752597_a_at
1554842_3p_at
1554842_PM_at
1554842_at
16800785
220281_PM_at
220281_at
34516_at
3593057
3593066
3593067
3593068
3593072
3593073
3593074
3593075
3593076
3593077
3593078
3593079
3593080
3593081
3593082
3593083
3593084
3593085
3593086
3593087
3593088
3593089
3593090
3593091
3593092
3593093
3593094
3593095
3593096
3593099
3593102
3593105
3593108
3593110
3593111
3593112
3593116
3593117
3593118
3593119
3593121
3593122
3593126
3593128
3593129
3593132
3593133
3593135
3593136
3593137
3593139
6557
7983564
90622_at
A_14_P125913
A_14_P139871
A_14_P139923
A_23_P99879
A_24_P136029
A_24_P911132
A_33_P3282454
GE59257
GO:0005215
GO:0005886
GO:0006811
GO:0006813
GO:0006814
GO:0006884
GO:0008511
GO:0015079
GO:0015293
GO:0015377
GO:0016020
GO:0016324
GO:0022857
GO:0034220
GO:0035725
GO:0043226
GO:0046873
GO:0055064
GO:0055075
GO:0055078
GO:0055085
GO:0070062
GO:0071805
GO:1902476
GO:1990573
HMNXSV003023916
HMNXSV003025463
HMNXSV003036004
Hs.123116.0.S2_3p_at
Hs2.123116.2.A1_3p_at
Hs2.123116.2.A1_3p_s_at
ILMN_1688162
PH_hs_0006904
TC15002797.hg
U58130_at
Participates
as a member of
Other forms of this molecule
SLC12A1 D648N [plasma membrane]
SLC12A1 R302Q [plasma membrane]
SLC12A1 V278F [plasma membrane]
SLC12A1 Y998* [plasma membrane]
SLC12A1 G319R [plasma membrane]
SLC12A1 [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-tryptophan 625
Coordinate
625
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name Identifier Synonyms
Bartter disease DOID:445 Aldosteronism with hyperplasia of the adrenal cortex, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome
Cross References
Guide to Pharmacology - Targets
968
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
HMDB Protein
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