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UNC79 unc-79 homolog, NALCN channel complex subunit [ Homo sapiens (human) ]

Gene ID: 57578, updated on 26-Nov-2021

Summary

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Official Symbol
UNC79provided by HGNC
Official Full Name
unc-79 homolog, NALCN channel complex subunitprovided by HGNC
Primary source
HGNC:HGNC:19966
See related
Ensembl:ENSG00000133958 MIM:616884
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
KIAA1409
Summary
The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]
Expression
Biased expression in brain (RPKM 2.1), testis (RPKM 1.1) and 3 other tissues See more
Orthologs
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Genomic context

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See UNC79 in Genome Data Viewer
Location:
14q32.12
Exon count:
60
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (93333182..93710473)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93799528..94174222)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein L18a pseudogene 1 Neighboring gene ribosomal protein L36a pseudogene 4 Neighboring gene ubiquitin protein ligase E3 component n-recognin 7 Neighboring gene BTB domain containing 7 Neighboring gene cytochrome c oxidase subunit 8C Neighboring gene RNA, U6 small nuclear 1258, pseudogene Neighboring gene proline rich membrane anchor 1 Neighboring gene uncharacterized LOC105370631

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Bramswig NC, et al. Hum Genet, 2018 Sep. PMID 30167850, Free PMC Article
  2. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Shamseldin HE, et al. Am J Hum Genet, 2016 Jan 7. PMID 26708753, Free PMC Article
  3. The NALCN channel complex is voltage sensitive and directly modulated by extracellular calcium. Chua HC, et al. Sci Adv, 2020 Apr. PMID 32494638, Free PMC Article
  4. A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. Lind PA, et al. Twin Res Hum Genet, 2010 Feb. PMID 20158304, Free PMC Article
  5. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex. Lu B, et al. Neuron, 2010 Nov 4. PMID 21040849, Free PMC Article

See all (14) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UNC79 variant is associated with neurodevelopmental diseases.
    Title: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
  2. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex
    Title: Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. In the Australian GWAS, one SNP achieved genomewide significance for comorbid AD/ND, rs12882384 in KIAA1409 on chromosome 14 (p = 4.86 x 10(-8))).
    Title: A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43337, KIAA1409

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
protein unc-79 homolog

NCBI Reference Sequences (RefSeq)

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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_051662.1 RefSeqGene

    Range
    4964..379658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346218.2 → NP_001333147.1  protein unc-79 homolog isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL122023, AL136338, AL157858
    Related
    ENSP00000376858.2, ENST00000393151.6

  2. NM_001395159.1 → NP_001382088.1  protein unc-79 homolog isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL122023, AL136338, AL157858
    Conserved Domains (1) summary
    pfam14776
    Location:114 → 645
    UNC-79; Cation-channel complex subunit UNC-79

  3. NM_020818.5 → NP_065869.3  protein unc-79 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AL122023, AL136338, AL157858
    Consensus CDS
    CCDS9911.2
    UniProtKB/Swiss-Prot
    Q9P2D8
    Related
    ENSP00000256339.4, ENST00000256339.8
    Conserved Domains (1) summary
    pfam14776
    Location:1 → 468
    UNC-79; Cation-channel complex subunit UNC-79

RNA

  1. NR_144398.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' end compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    AL122023

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    93333182..93710473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537028.2 → XP_011535330.1  protein unc-79 homolog isoform X21

    See identical proteins and their annotated locations for XP_011535330.1

    Conserved Domains (1) summary
    pfam14776
    Location:1 → 468
    UNC-79; Cation-channel complex subunit UNC-79

  2. XM_011537027.2 → XP_011535329.1  protein unc-79 homolog isoform X19

    See identical proteins and their annotated locations for XP_011535329.1

    Conserved Domains (1) summary
    pfam14776
    Location:46 → 578
    UNC-79; Cation-channel complex subunit UNC-79

  3. XM_011537026.2 → XP_011535328.1  protein unc-79 homolog isoform X19

    See identical proteins and their annotated locations for XP_011535328.1

    Conserved Domains (1) summary
    pfam14776
    Location:46 → 578
    UNC-79; Cation-channel complex subunit UNC-79

  4. XM_017021515.1 → XP_016877004.1  protein unc-79 homolog isoform X16

  5. XM_024449668.1 → XP_024305436.1  protein unc-79 homolog isoform X17

    Conserved Domains (1) summary
    pfam14776
    Location:114 → 583
    UNC-79; Cation-channel complex subunit UNC-79

  6. XM_011537018.2 → XP_011535320.1  protein unc-79 homolog isoform X1

    See identical proteins and their annotated locations for XP_011535320.1

    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  7. XM_017021507.1 → XP_016876996.1  protein unc-79 homolog isoform X4

  8. XM_011537022.2 → XP_011535324.1  protein unc-79 homolog isoform X7

    See identical proteins and their annotated locations for XP_011535324.1

    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  9. XM_017021508.1 → XP_016876997.1  protein unc-79 homolog isoform X6

  10. XM_017021514.1 → XP_016877003.1  protein unc-79 homolog isoform X15

  11. XM_017021506.1 → XP_016876995.1  protein unc-79 homolog isoform X3

  12. XM_011537020.2 → XP_011535322.1  protein unc-79 homolog isoform X2

    See identical proteins and their annotated locations for XP_011535322.1

    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  13. XM_017021510.1 → XP_016876999.1  protein unc-79 homolog isoform X11

  14. XM_017021513.1 → XP_016877002.1  protein unc-79 homolog isoform X12

  15. XM_017021516.1 → XP_016877005.1  protein unc-79 homolog isoform X18

  16. XM_024449667.1 → XP_024305435.1  protein unc-79 homolog isoform X10

    Conserved Domains (1) summary
    pfam14776
    Location:159 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  17. XM_011537024.2 → XP_011535326.1  protein unc-79 homolog isoform X13

    See identical proteins and their annotated locations for XP_011535326.1

    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  18. XM_017021509.1 → XP_016876998.1  protein unc-79 homolog isoform X9

  19. XM_011537023.2 → XP_011535325.1  protein unc-79 homolog isoform X8

    See identical proteins and their annotated locations for XP_011535325.1

    Conserved Domains (1) summary
    pfam07964
    Location:1539 → 2012
    Red1; Rec10 / Red1

  20. XM_017021517.1 → XP_016877006.1  protein unc-79 homolog isoform X20

  21. XM_011537025.2 → XP_011535327.1  protein unc-79 homolog isoform X14

    See identical proteins and their annotated locations for XP_011535327.1

    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  22. XM_017021518.1 → XP_016877007.1  protein unc-79 homolog isoform X22

  23. XM_011537029.2 → XP_011535331.1  protein unc-79 homolog isoform X24

    See identical proteins and their annotated locations for XP_011535331.1

    Conserved Domains (1) summary
    pfam14776
    Location:6 → 277
    UNC-79; Cation-channel complex subunit UNC-79

  24. XM_017021519.1 → XP_016877008.1  protein unc-79 homolog isoform X23

  25. XM_017021520.1 → XP_016877009.1  protein unc-79 homolog isoform X25

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    447744..822438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2D8.4 GenPept UniProtKB/Swiss-Prot:Q9P2D8

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