Tchem NALCN Sodium leak channel non-selective protein

Protein Summary

Description

Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity). This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]

Uniprot Accession IDs

• Q8IZF0
• Q6P2S6
• Q6ZMI7
• Q8IZZ1
• Q8TAH1

Gene Name

• NALCN

Ensembl ID

• ENST00000251127
• ENSP00000251127
• ENSG00000102452
• ENST00000376200
• ENSP00000365373

Symbol

• VGCNL1
• IHPRF
• INNFD
• CanIon
• IHPRF1
• VGCNL1
• CLIFAHDD
• bA430M15.1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.88
virus perturbation	0.76
trait	0.75
histone modification site profile	0.64
gene perturbation	0.62

Protein Classes

DTO Classes

Protein / Ion Channel / Cation-nonselective Channel Family / Sodium Leak Channel Non-selective Protein

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 92.49   (req: < 5)

Gene RIFs: 30   (req: <= 3)

Antibodies: 92   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 92.49   (req: >= 5)

Gene RIFs: 30   (req: > 3)

Antibodies: 92   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 3

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1