InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC12A1

Summary

InnateDB Protein

IDBP-10871.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC12A1

Protein Name

solute carrier family 12 (sodium/potassium/chloride transporters), member 1

Synonyms

BSC1; NKCC2;

Species

Homo sapiens

Ensembl Protein

ENSP00000370381

InnateDB Gene

IDBG-10865 (SLC12A1)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed:8640224}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Kidney specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008511	sodium:potassium:chloride symporter activity
GO:0015377	cation:chloride symporter activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0006814	sodium ion transport
GO:0006821	chloride transport
GO:0008219	cell death
GO:0034220	ion transmembrane transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002443 Na/K/Cl co-transporter
IPR002445 Na/K/Cl co-transporter 2
IPR004841 Amino acid permease/ SLC12A domain
IPR004842 Na/K/Cl co-transporter superfamily
IPR013612 Amino acid permease, N-terminal

PFAM

PF00324
PF08403

PRINTS

PR01207
PR01209

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q13621