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solute carrier family 12 member 1

Summary

Gene Symbol

SLC12A1

Organism

Homo sapiens (human)

External Links

NCBI Gene

6557

PubChem

6557

Alliance of Genome Resources

HGNC:10910

Annotation

Keyword

Alternative splicing
Bartter syndrome
Cell membrane
Chloride
Disease variant
Glycoprotein
Neurodegeneration
Phosphoprotein
Potassium transport
Proteomics identification
Reference proteome
Sodium transport
Symport
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q13621	Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 Kidney-specific Na-K-Cl symporter
Q8IUN5
B4DPF4

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
monoatomic ion transmembrane transport	ISS
sodium ion transmembrane transport	IBA
chloride ion homeostasis	IBA
potassium ion homeostasis	IBA
sodium ion homeostasis	IBA

GO Hierarchy

biological process

cellular process [inference]

transmembrane transport [inference]

monoatomic ion transmembrane transport

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic cation transmembrane transport [inference]

sodium ion transmembrane transport

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

import across plasma membrane [inference]

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

cellular component organization or biogenesis [inference]

cellular component organization [inference]

regulation of cellular component size [inference]

regulation of cell size [inference]

cell volume homeostasis

homeostatic process [inference]

cellular homeostasis [inference]

cell volume homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

monoatomic cation homeostasis [inference]

monoatomic anion homeostasis [inference]

chloride ion homeostasis

inorganic ion homeostasis [inference]

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport

monoatomic cation transport [inference]

metal ion transport [inference]

potassium ion transport [inference]

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

sodium ion transport [inference]

sodium ion transmembrane transport

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

monoatomic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

monoatomic ion transmembrane transport

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport

monoatomic cation transmembrane transport [inference]

sodium ion transmembrane transport

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic cation transmembrane transport [inference]

sodium ion transmembrane transport

potassium ion transmembrane transport [inference]

potassium ion import across plasma membrane

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

import across plasma membrane [inference]

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

import into cell [inference]

inorganic ion import across plasma membrane [inference]

inorganic cation import across plasma membrane [inference]

potassium ion import across plasma membrane

biological regulation [inference]

regulation of biological quality [inference]

regulation of anatomical structure size [inference]

regulation of cellular component size [inference]

regulation of cell size [inference]

cell volume homeostasis

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
plasma membrane	TAS
membrane	TAS	7929272
apical plasma membrane	ISS
apical plasma membrane	IDA	21321328
apical plasma membrane	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

plasma membrane region [inference]

apical plasma membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 3** entries
GO Term	Evidence Code	PMID
sodium:potassium:chloride symporter activity	TAS
sodium:potassium:chloride symporter activity	IDA	21321328
sodium:potassium:chloride symporter activity	IBA

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic cation transmembrane transporter activity [inference]

solute:monoatomic cation symporter activity [inference]

monoatomic anion:monoatomic cation symporter activity [inference]

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

metal ion transmembrane transporter activity [inference]

potassium ion transmembrane transporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

sodium ion transmembrane transporter activity [inference]

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion transmembrane transporter activity [inference]

chloride transmembrane transporter activity [inference]

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:monoatomic cation symporter activity [inference]

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

active monoatomic ion transmembrane transporter activity [inference]

solute:monoatomic cation symporter activity [inference]

monoatomic anion:monoatomic cation symporter activity [inference]

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

inorganic molecular entity transmembrane transporter activity [inference]

inorganic anion transmembrane transporter activity [inference]

chloride transmembrane transporter activity [inference]

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

inorganic cation transmembrane transporter activity [inference]

metal ion transmembrane transporter activity [inference]

potassium ion transmembrane transporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

sodium ion transmembrane transporter activity [inference]

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

active transmembrane transporter activity [inference]

secondary active transmembrane transporter activity [inference]

symporter activity [inference]

solute:monoatomic cation symporter activity [inference]

monoatomic anion:monoatomic cation symporter activity [inference]

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

active monoatomic ion transmembrane transporter activity [inference]

solute:monoatomic cation symporter activity [inference]

monoatomic anion:monoatomic cation symporter activity [inference]

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

salt transmembrane transporter activity [inference]

potassium ion transmembrane transporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

sodium ion transmembrane transporter activity [inference]

solute:sodium symporter activity [inference]

potassium:sodium symporter activity [inference]

sodium:potassium:chloride symporter activity

monoatomic anion:sodium symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

chloride transmembrane transporter activity [inference]

chloride:monoatomic cation symporter activity [inference]

sodium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

potassium:chloride symporter activity [inference]

sodium:potassium:chloride symporter activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

solute carrier family 12 member

Functional Category

E: Amino acid transport and metabolism
K: Transcription
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 6** entries
Gene Ontology
cell volume homeostasis
chloride ion homeostasis
chloride transmembrane transport
chloride
monoatomic ion transport
potassium ion homeostasis

Displaying **all 3** entries
InterPro
Amino acid permease/ SLC12A domain
SLC12A transporter family
SLC12A transporter, C-terminal

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110142	Bartter disease type 1	Alliance of Genome Resources
DOID:445	Bartter disease	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 95 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	6557	Xenbase:XB-GENE-479925
Drosophila melanogaster	6558	FB:FBgn0036279
Drosophila melanogaster	6559	FB:FBgn0036279
Mus musculus	20495	Xenbase:XB-GENE-479925	MOUSE33287
Drosophila melanogaster	20496	FB:FBgn0036279
Drosophila melanogaster	20497	FB:FBgn0036279
Rattus norvegicus	25065		RATNO27438
Drosophila melanogaster	54300	FB:FBgn0036279
Bos taurus	407161		BOVIN01395
Drosophila melanogaster	415170	FB:FBgn0036279

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OrthoDB (Group)

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Acknowledgements