InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC12A3

Summary

InnateDB Protein

IDBP-745879.3

Last Modified

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

Gene Symbol

SLC12A3

Protein Name

Synonyms

NCC; NCCT; TSC;

Species

Homo sapiens

Ensembl Protein

ENSP00000457552

InnateDB Gene

IDBG-32527 (SLC12A3)

Protein Structure

UniProt Annotation

Function

Key mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant fraction of renal sodium reabsorption. {ECO:0000269PubMed:8528245}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Gitelman syndrome (GS) [MIM:263800]: An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome. {ECO:0000269PubMed:10616841, ECO:0000269PubMed:10988270, ECO:0000269PubMed:11168953, ECO:0000269PubMed:11940055, ECO:0000269PubMed:12008755, ECO:0000269PubMed:12112667, ECO:0000269PubMed:15069170, ECO:0000269PubMed:15687331, ECO:0000269PubMed:16429844, ECO:0000269PubMed:17654016, ECO:0000269PubMed:17873326, ECO:0000269PubMed:8528245, ECO:0000269PubMed:8900229, ECO:0000269PubMed:8954067, ECO:0000269PubMed:9734597}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominant in kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0015377	cation:chloride symporter activity
GO:0015378	sodium:chloride symporter activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0006821	chloride transport
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002948 Thiazide-sensitive Na-K-Cl co-transporter
IPR004841 Amino acid permease/ SLC12A domain
IPR004842 Na/K/Cl co-transporter superfamily
IPR013612 Amino acid permease, N-terminal

PFAM

PF00324
PF08403

PRINTS

PR01230

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P55017