SLC12A1
Solute carrier family 12 member 1
Protein Classes
Protein Summary
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume. This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
- ENST00000380993
- ENSP00000370381
- ENSG00000074803
- ENST00000396577
- ENSP00000379822
- ENST00000558405
- ENSP00000453409
- ENST00000647232
- ENSP00000493875
- ENST00000647546
- ENSP00000495332
- NKCC2
- BSC1
- NKCC2
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
protein domain | 0.73 | ||
cell type or tissue | 0.67 | ||
drug | 0.65 | ||
biological term | 0.6 | ||
molecular function | 0.6 | ||
IDG Partner Tools
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 313.52 (req: < 5)
Gene RIFs: 36 (req: <= 3)
Antibodies: 230 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 313.52 (req: >= 5)
Gene RIFs: 36 (req: > 3)
Antibodies: 230 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drugs: 5
Approved Drugs (5)
1 – 5 of 5
GWAS Traits (3)
Items per page:
1 – 3 of 3
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
lymphocyte count | 2 | 2 | 2 | 71.4 | |||||
lymphocyte percentage of leukocytes | 1 | 1 | 1 | 23.7 | |||||
monocyte count | 1 | 1 | 1 | 19.2 | |||||
Items per page:
1 – 3 of 3
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
lymphocyte count | 2 | 71.4 | |||||
lymphocyte percentage of leukocytes | 1 | 23.7 | |||||
monocyte count | 1 | 19.2 | |||||
Pathways (8)
Reactome (8)
Click on a row in the table to change the structure displayed.
Items per page:
1 – 5 of 8
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Cation-coupled Chloride cotransporters | ||||
Reactome | Defective SLC12A1 causes Bartter syndrome 1 (BS1) | ||||
Reactome | Disease | ||||
Reactome | Disorders of transmembrane transporters | ||||
Reactome | SLC transporter disorders | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Cation-coupled Chloride cotransporters | ||||
Defective SLC12A1 causes Bartter syndrome 1 (BS1) | ||||
Disease | ||||
Disorders of transmembrane transporters | ||||
SLC transporter disorders | ||||
Gene Ontology Terms (17)
Functions (4)
Components (5)
Processes (8)
Items per page:
10
1 – 4 of 4
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Protein-Protein Interactions (84)
1 – 10 of 84
STK39
Family: Kinase
Novelty: 0.00548476
Score: 0.939
Data Source: STRINGDB
KCNJ1
Family: IC
Novelty: 0.0025066
Score: 0.906
Data Source: STRINGDB
WNK1
Family: Kinase
Novelty: 0.00270535
Score: 0.886
Data Source: STRINGDB
WNK4
Family: Kinase
Novelty: 0.00795905
Score: 0.856
Data Source: STRINGDB
CLCNKB
Family: IC
Novelty: 0.00982208
Score: 0.85
Data Source: STRINGDB
SLC9A3
Family: Transporter
Novelty: 0.00146466
Score: 0.845
Data Source: STRINGDB
AQP2
Novelty: 0.00088471
Score: 0.837
Data Source: STRINGDB
WNK3
Family: Kinase
Novelty: 0.03382701
Score: 0.835
Data Source: STRINGDB
SLC4A2
Family: Transporter
Novelty: 0.02448062
Score: 0.806
Data Source: STRINGDB
BSND
Novelty: 0.01638636
Score: 0.8
Data Source: STRINGDB
Publication Statistics
PubMed Score 313.52
PubMed score by year
PubTator Score 304.55
PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
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