InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NALCN

Summary

InnateDB Protein

IDBP-47745.6

Last Modified

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

Gene Symbol

NALCN

Protein Name

sodium leak channel, non-selective

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000251127

InnateDB Gene

IDBG-47743 (NALCN)

Protein Structure

UniProt Annotation

Function

Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. Activated either by neuropeptides substance P or neurotensin. Required for normal respiratory rhythm and neonatal survival (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Hypotonia, infantile, with psychomotor retardation and characteristic facies (IHPRF) [MIM:615419]: A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies. {ECO:0000269PubMed:23749988, ECO:0000269PubMed:24075186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005245	voltage-gated calcium channel activity
GO:0005272	sodium channel activity
GO:0005515	protein binding

Biological Process

GO:0006811	ion transport
GO:0008219	cell death
GO:0034220	ion transmembrane transport
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport
GO:0070509	calcium ion import
GO:0086010	membrane depolarization during action potential