solute carrier family 12 member 1

Summary
Gene Symbol
  • SLC12A1
Organism
Homo sapiens (human)
NCBI Gene
6557
PubChem
6557
Alliance of Genome Resources
JoGo
SLC12A1
TogoVar
SLC12A1
Annotation
Keyword
  • Alternative splicing
  • Bartter syndrome
  • Cell membrane
  • Chloride
  • Coiled coil
  • Disease variant
  • Glycoprotein
  • Neurodegeneration
  • Phosphoprotein
  • Potassium transport
  • Proteomics identification
  • Reference proteome
  • Sodium transport
  • Symport
  • Transmembrane helix
Proteins
Displaying all 4 entries
UniProt Protein Name
B4DPF4
Q13621
  • Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1
  • Kidney-specific Na-K-Cl symporter
  • Na-K-2Cl cotransporter 2
Q8IUN5
A0A8I5KSK6
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110142 Bartter disease type 1
DOID:445 Bartter disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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