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NALCN sodium leak channel, non-selective [ Homo sapiens (human) ]

Gene ID: 259232, updated on 15-Jun-2019

Summary

Official Symbol
NALCNprovided by HGNC
Official Full Name
sodium leak channel, non-selectiveprovided by HGNC
Primary source
HGNC:HGNC:19082
See related
Ensembl:ENSG00000102452 MIM:611549
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IHPRF; INNFD; CanIon; IHPRF1; VGCNL1; CLIFAHDD; bA430M15.1
Summary
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]
Expression
Biased expression in brain (RPKM 11.1), adrenal (RPKM 2.5) and 5 other tissues See more
Orthologs

Genomic context

See NALCN in Genome Data Viewer
Location:
13q32.3-q33.1
Exon count:
48
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (101053774..101417206, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (101706130..102068813, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene NALCN antisense RNA 1 Neighboring gene ADP ribosylation factor 4 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 411 Neighboring gene integrin subunit beta like 1 Neighboring gene uncharacterized LOC107984616 Neighboring gene RNA, U1 small nuclear 24, pseudogene Neighboring gene fibroblast growth factor 14

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genome-wide association study of atypical psychosis.
NHGRI GWA Catalog
Genome-wide association study of neurocognitive impairment and dementia in HIV-infected adults.
NHGRI GWA Catalog
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23913, FLJ44659, FLJ44764, MGC74524

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
leak channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium channel activity TAS
Traceable Author Statement
more info
 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of resting membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium leak channel non-selective protein
Names
four repeat voltage-gated ion channel
voltage gated channel like 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053176.1 RefSeqGene

    Range
    5699..368433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350748.2NP_001337677.1  sodium leak channel non-selective protein isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL138707, AL354891, AL356778, BF516239, KF511189
    Conserved Domains (1) summary
    pfam00520
    Location:9161190
    Ion_trans; Ion transport protein
  2. NM_001350749.2NP_001337678.1  sodium leak channel non-selective protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate exon in the 5' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AL138707, AL354891, AL356778, BF516239, KF511189
    Consensus CDS
    CCDS9498.1
    Conserved Domains (1) summary
    pfam00520
    Location:8871161
    Ion_trans; Ion transport protein
  3. NM_001350750.2NP_001337679.1  sodium leak channel non-selective protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons in the 5' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1. Both variants 4 and 5 encode the same isoform (3).
    Source sequence(s)
    AL138707, AL354891, AL356778, BF516239, KF511189
    Conserved Domains (1) summary
    pfam00520
    Location:8581132
    Ion_trans; Ion transport protein
  4. NM_001350751.2NP_001337680.1  sodium leak channel non-selective protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and lacks two alternate exons in the 5' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1. Both variants 4 and 5 encode the same isoform (3).
    Source sequence(s)
    AL138707, AL354891, AL356778, BF516239, KF511189
    Conserved Domains (1) summary
    pfam00520
    Location:8581132
    Ion_trans; Ion transport protein
  5. NM_052867.4NP_443099.1  sodium leak channel non-selective protein isoform 2

    See identical proteins and their annotated locations for NP_443099.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Both variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AK002089, AL356778, AY141972, BC012128, BF516239, DA128114
    Consensus CDS
    CCDS9498.1
    UniProtKB/Swiss-Prot
    Q8IZF0
    UniProtKB/TrEMBL
    A0A024RE05
    Related
    ENSP00000251127.6, ENST00000251127.11
    Conserved Domains (1) summary
    pfam00520
    Location:8871161
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    101053774..101417206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521067.2XP_011519369.1  sodium leak channel non-selective protein isoform X1

    Conserved Domains (2) summary
    pfam00520
    Location:12531477
    Ion_trans; Ion transport protein
    pfam10688
    Location:12851430
    Imp-YgjV; Bacterial inner membrane protein
  2. XM_024449336.1XP_024305104.1  sodium leak channel non-selective protein isoform X5

    Conserved Domains (1) summary
    pfam00520
    Location:9351209
    Ion_trans; Ion transport protein
  3. XM_011521069.2XP_011519371.1  sodium leak channel non-selective protein isoform X2

    Conserved Domains (2) summary
    pfam00520
    Location:12241448
    Ion_trans; Ion transport protein
    pfam10688
    Location:12561401
    Imp-YgjV; Bacterial inner membrane protein
  4. XM_017020536.2XP_016876025.1  sodium leak channel non-selective protein isoform X3

  5. XM_017020537.1XP_016876026.1  sodium leak channel non-selective protein isoform X4

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