Entity Details

Primary name NALCN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IZF0
EntryNameNALCN_HUMAN
FullNameSodium leak channel non-selective protein
TaxID9606
Evidenceevidence at protein level
Length1738
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesNALCN

GO terms

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GOName
GO:0005244 voltage-gated ion channel activity
GO:0005261 cation channel activity
GO:0005272 sodium channel activity
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0022840 leak channel activity
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0060075 regulation of resting membrane potential
GO:0070588 calcium ion transmembrane transport
GO:0071805 potassium ion transmembrane transport

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR005821 Ion transport domainDomainDomain
IPR027359 Voltage-dependent channel domain superfamilyFamilyHomologous superfamily
IPR028823 Sodium leak channel non-selective proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615419 OMIMHypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1)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. The disease is caused by variants affecting the gene represented in this entry.
616266 OMIMCongenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
NALCN_HUMANMEOX2_HUMANBioGRID, IntAct25416956 details
NALCN_HUMANLMNA_HUMANBioGRID24623722 details
NALCN_HUMANACM3_HUMANMINT19575010 details