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Aliases for SLC12A1 Gene

Aliases for SLC12A1 Gene

  • Solute Carrier Family 12 Member 1 2 3
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 1 2 3 5
  • Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 2 3 4
  • Kidney-Specific Na-K-Cl Symporter 3 4
  • NKCC2 3 4
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 1 3
  • Na-K-2Cl Cotransporter 3
  • NKCC2A Variant A 3
  • BSC1 3

External Ids for SLC12A1 Gene

Previous GeneCards Identifiers for SLC12A1 Gene

  • GC15P044057
  • GC15P041545
  • GC15P046078
  • GC15P046214
  • GC15P046215
  • GC15P046287
  • GC15P048498
  • GC15P025334

Summaries for SLC12A1 Gene

Entrez Gene Summary for SLC12A1 Gene

  • 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]

GeneCards Summary for SLC12A1 Gene

SLC12A1 (Solute Carrier Family 12 Member 1) is a Protein Coding gene. Diseases associated with SLC12A1 include bartter syndrome, type 1 and antenatal bartter syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include transporter activity and sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A2.

UniProtKB/Swiss-Prot for SLC12A1 Gene

  • Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.

Tocris Summary for SLC12A1 Gene

  • Na+/K+/Cl- Symporters (NKCC) are membrane-bound channels that play a major role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation and possibly in cell cycle regulation. There are two NKCC isoforms: NKCC1 and NKCC2.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A1 Gene

Genomics for SLC12A1 Gene

Regulatory Elements for SLC12A1 Gene

Promoters for SLC12A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC12A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC12A1 Gene

Chromosome:
15
Start:
48,191,664 bp from pter
End:
48,304,078 bp from pter
Size:
112,415 bases
Orientation:
Plus strand

Genomic View for SLC12A1 Gene

Genes around SLC12A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC12A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A1 Gene

Proteins for SLC12A1 Gene

  • Protein details for SLC12A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13621-S12A1_HUMAN
    Recommended name:
    Solute carrier family 12 member 1
    Protein Accession:
    Q13621
    Secondary Accessions:
    • A8JYA2
    • E9PDW4

    Protein attributes for SLC12A1 Gene

    Size:
    1099 amino acids
    Molecular mass:
    121450 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC12A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A1 Gene

Proteomics data for SLC12A1 Gene at MOPED

Post-translational modifications for SLC12A1 Gene

  • Glycosylation at Asn 446 and Asn 456
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC12A1 Gene

Domains & Families for SLC12A1 Gene

Gene Families for SLC12A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13621

UniProtKB/Swiss-Prot:

S12A1_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A1: view

Function for SLC12A1 Gene

Molecular function for SLC12A1 Gene

GENATLAS Biochemistry:
solute carrier family 12 (sodium/potassium/chloride transfer 1,primary mediator of sodium and chloride reabsorption in the apical membrane thick ascending limb of the loop of Henle
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK3.
UniProtKB/Swiss-Prot Function:
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
genes like me logo Genes that share phenotypes with SLC12A1: view

Human Phenotype Ontology for SLC12A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC12A1 Gene

MGI Knock Outs for SLC12A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SLC12A1 Gene

Localization for SLC12A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC12A1 Gene COMPARTMENTS Subcellular localization image for SLC12A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
nucleus 2
cytoskeleton 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SLC12A1 Gene

Pathways & Interactions for SLC12A1 Gene

genes like me logo Genes that share pathways with SLC12A1: view

Gene Ontology (GO) - Biological Process for SLC12A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 8640224
GO:0006813 potassium ion transport IEA --
GO:0032978 protein insertion into membrane from inner side IEA --
GO:0034220 ion transmembrane transport ISS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC12A1: view

No data available for SIGNOR curated interactions for SLC12A1 Gene

Drugs & Compounds for SLC12A1 Gene

(20) Drugs for SLC12A1 Gene - From: Novoseek, DrugBank, IUPHAR, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bumetanide Approved Pharma Agonist, blocker, Target, inhibitor NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 15
Furosemide Approved Pharma Agonist, blocker, Target, inhibitor GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 171
Chlormerodrin Approved, Withdrawn Pharma inhibitor, Target, inducer 0
Chlorthalidone Approved Pharma blocker, Target, inhibitor 57
Ethacrynic acid Approved Pharma blocker, Target, inhibitor 2

(8) Additional Compounds for SLC12A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(2) Tocris Compounds for SLC12A1 Gene

Compound Action Cas Number
Bumetanide Na+/2Cl-/K+ (NKCC) symporter inhibitor 28395-03-1
Furosemide Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 54-31-9

(2) ApexBio Compounds for SLC12A1 Gene

Compound Action Cas Number
Bumetanide NKCC cotransporter inhibitor 28395-03-1
Furosemide GABAA receptors antagonist 54-31-9
genes like me logo Genes that share compounds with SLC12A1: view

Transcripts for SLC12A1 Gene

Unigene Clusters for SLC12A1 Gene

Solute carrier family 12 (sodium/potassium/chloride transporters), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: -
SP2:
SP3: - - -

ExUns: 24 ^ 25 ^ 26
SP1:
SP2:
SP3:

Relevant External Links for SLC12A1 Gene

GeneLoc Exon Structure for
SLC12A1
ECgene alternative splicing isoforms for
SLC12A1

Expression for SLC12A1 Gene

mRNA expression in normal human tissues for SLC12A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC12A1 Gene

This gene is overexpressed in Kidney - Cortex (x47.8).

Protein differential expression in normal tissues from HIPED for SLC12A1 Gene

This gene is overexpressed in Urine (59.0) and Serum (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC12A1 Gene



SOURCE GeneReport for Unigene cluster for SLC12A1 Gene Hs.123116

mRNA Expression by UniProt/SwissProt for SLC12A1 Gene

Q13621-S12A1_HUMAN
Tissue specificity: Kidney specific.
genes like me logo Genes that share expression patterns with SLC12A1: view

Protein tissue co-expression partners for SLC12A1 Gene

Primer Products

In Situ Assay Products

Orthologs for SLC12A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC12A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC12A1 35
  • 92.02 (n)
  • 94.45 (a)
SLC12A1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A1 35
  • 92.24 (n)
  • 95.36 (a)
SLC12A1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a1 35
  • 88.77 (n)
  • 94.34 (a)
Slc12a1 16
Slc12a1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC12A1 35
  • 99.55 (n)
  • 99.45 (a)
SLC12A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a1 35
  • 87.88 (n)
  • 93.97 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC12A1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A1 35
  • 79.52 (n)
  • 83.64 (a)
SLC12A1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a1 35
  • 74.68 (n)
  • 78.45 (a)
Str.12192 35
zebrafish
(Danio rerio)
Actinopterygii slc12a1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4357 37
  • 47 (a)
EG:8D8.3 37
  • 32 (a)
CG31547 36
  • 41 (a)
ManyToMany
Ncc69 36
  • 42 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F10E7.9 37
  • 25 (a)
nkcc-1 35
  • 53.3 (n)
  • 48.19 (a)
B0303.11 36
  • 27 (a)
ManyToMany
nkcc-1 36
  • 39 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 21 (a)
OneToMany
Species with no ortholog for SLC12A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC12A1 Gene

ENSEMBL:
Gene Tree for SLC12A1 (if available)
TreeFam:
Gene Tree for SLC12A1 (if available)

Paralogs for SLC12A1 Gene

Paralogs for SLC12A1 Gene

genes like me logo Genes that share paralogs with SLC12A1: view

Variants for SLC12A1 Gene

Sequence variations from dbSNP and Humsavar for SLC12A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_010223 Bartter syndrome 1 (BS1)
VAR_010224 Bartter syndrome 1 (BS1)
rs1552311 - 48,288,516(+) AATTG(C/T)GTAAG downstream-variant-500B, reference, missense
rs1224427 -- 48,278,911(-) TTTGA(A/G)AAATA intron-variant
rs1224428 -- 48,278,201(-) agtgg(C/T)gcgat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A1 Gene

Variant ID Type Subtype PubMed ID
dgv746e1 CNV Complex 17122850
nsv526690 CNV Loss 19592680
nsv522923 CNV Loss 19592680
nsv904203 CNV Gain 21882294
esv2474615 CNV Deletion 19546169
esv2749657 CNV Deletion 23290073
esv2617587 CNV Deletion 19546169
esv7684 CNV Loss 19470904
esv2666859 CNV Deletion 23128226

Variation tolerance for SLC12A1 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC12A1 Gene

HapMap Linkage Disequilibrium report
SLC12A1
Human Gene Mutation Database (HGMD)
SLC12A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A1 Gene

Disorders for SLC12A1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SLC12A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bartter syndrome, type 1
  • antley-bixler syndrome with genital anomalies and disordered steroidogenesis
antenatal bartter syndrome
  • bartter syndrome, furosemide type
hypokalemia
  • hypopotassemia
gitelman syndrome
  • hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
nephrocalcinosis
  • hypercalcemic nephropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S12A1_HUMAN
  • Bartter syndrome 1 (BS1) [MIM:601678]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. {ECO:0000269 PubMed:8640224}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SLC12A1 Gene

Bartter syndrome,hypokalemic,hypochloremic metabolic alkalosis with hyperkaliury,hyperexcretion of prostaglandin E,hyperreninemia hyperaldosteronism with normal blood pressure,insensitivity to AGT2,and hyperplasia of juxtaglomerular apparatus,autosomal recessive,presenting as an antenatal form with hydramnios prematurity and dehydration at built and a classic form with failure to thrive

Relevant External Links for SLC12A1

Genetic Association Database (GAD)
SLC12A1
Human Genome Epidemiology (HuGE) Navigator
SLC12A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC12A1
genes like me logo Genes that share disorders with SLC12A1: view

Publications for SLC12A1 Gene

  1. Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. (PMID: 17460608) Vormfelde S.V. … BrockmAPller J. (Clin. Pharmacol. Ther. 2007) 3 23 25 26
  2. Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. (PMID: 8640224) Simon D.B. … Lifton R.P. (Nat. Genet. 1996) 2 3 4 67
  3. Chloride channels in renal disease. (PMID: 10561751) Thakker R.V. (Adv. Nephrol. Necker Hosp. 1999) 23 25 26
  4. The molecular genetic approach to "Bartter's syndrome". (PMID: 9587066) KA!rolyi L. … Seyberth H.W. (J. Mol. Med. 1998) 23 25 26
  5. The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis. (PMID: 9690036) Thakker R.V. (Curr. Opin. Nephrol. Hypertens. 1998) 23 25 26

Products for SLC12A1 Gene

Sources for SLC12A1 Gene

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