Slc12a1 - solute carrier family 12, member 1 Gene

Also Known as Nkcc2; mBSC1; urehr3; D630042G03Rik

生物種: Mus musculus

遺伝子タイプ: protein coding
遺伝子ID: 20495

Summary

Enables sodium:potassium:chloride symporter activity. Acts upstream of or within several processes, including cellular hyperosmotic salinity response; excretion; and positive regulation of calcineurin-NFAT signaling cascade. Located in apical plasma membrane. Is expressed in several structures, including alimentary system and urinary system. Used to study Bartter disease type 1. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1). [provided by Alliance of Genome Resources, Apr 2022]

Slc12a1 Products (2)

mRNA Protein Name
NM_001079690.2 NP_001073158.2 solute carrier family 12 member 1 isoform F
NM_183354.3 NP_899197.3 solute carrier family 12 member 1 isoform A
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
12386165 MGI
enables sodium:potassium:chloride symporter activity IDA
IDA: Inferred from direct assay
11790783 MGI
Biological Process GO Annotation Evidence 参考文献 由来
acts upstream of or within kidney development IMP
IMP: Inferred from mutant phenotype
17264314 MGI
acts upstream of or within urea transmembrane transport IMP
IMP: Inferred from mutant phenotype
17264314 MGI
Cellular Component GO Annotation Evidence 参考文献 由来
located in apical plasma membrane IDA
IDA: Inferred from direct assay
11423561 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

solute carrier family 12 member 1

  • BSC1

  • bumetanide-sensitive cotransporter type 1

  • bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2

  • kidney-specific Na-K-Cl symporter

Orthologs Information

生物種 Symbol 由来 ID
Homo sapiens Slc12a1 NCBI NCBI:6557