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

Gene ID: 57578, updated on 27-Nov-2024

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; AllianceGenome:HGNC:19966
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93333182..93707876)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87565061..87935165)
RS_2024_09 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 ubiquitin protein ligase E3 component n-recognin 7 Neighboring gene ribosomal protein L36a pseudogene 4 Neighboring gene BTB domain containing 7 Neighboring gene NANOG hESC enhancer GRCh37_chr14:93810118-93810619 Neighboring gene cytochrome c oxidase subunit 8C Neighboring gene RNA, U6 small nuclear 1258, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93956171-93956670 Neighboring gene NANOG hESC enhancer GRCh37_chr14:94025779-94026281 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:94153830-94154524 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94154525-94155218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94155913-94156606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94155219-94155912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94173027-94173527 Neighboring gene uncharacterized LOC124903367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94215113-94215986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94226183-94226683 Neighboring gene proline rich membrane anchor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94245793-94246294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254197-94254908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254909-94255622

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. A new neurodevelopmental disorder linked to heterozygous variants in UNC79. Bayat A, et al. Genet Med, 2023 Sep. PMID 37183800
  2. 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
  3. 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
  4. 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
  5. 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

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
    Title: A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
  2. 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).
  3. 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.
  4. 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.
  5. 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)

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 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
    102721..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
    Consensus CDS
    CCDS91921.1
    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    UniProtKB/TrEMBL
    A0A8Q3SHN5
    Related
    ENSP00000511644.1, ENST00000695013.1

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

    Status: REVIEWED

    Source sequence(s)
    AL122023, AL136338, AL157858
    Consensus CDS
    CCDS91920.1
    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    UniProtKB/TrEMBL
    A0A8Q3SHI5
    Related
    ENSP00000511643.1, ENST00000695012.1
    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
    B5MDL6, Q6ZUT7, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    93333182..93707876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537027.3 → XP_011535329.1  protein unc-79 homolog isoform X22

    See identical proteins and their annotated locations for XP_011535329.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:46 → 578
    UNC-79; Cation-channel complex subunit UNC-79

  2. XM_011537026.3 → XP_011535328.1  protein unc-79 homolog isoform X22

    See identical proteins and their annotated locations for XP_011535328.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:46 → 578
    UNC-79; Cation-channel complex subunit UNC-79

  3. XM_047431624.1 → XP_047287580.1  protein unc-79 homolog isoform X15

  4. XM_024449668.2 → XP_024305436.1  protein unc-79 homolog isoform X20

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:114 → 583
    UNC-79; Cation-channel complex subunit UNC-79

  5. XM_017021515.2 → XP_016877004.1  protein unc-79 homolog isoform X18

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  6. XM_047431627.1 → XP_047287583.1  protein unc-79 homolog isoform X24

  7. XM_011537018.3 → XP_011535320.1  protein unc-79 homolog isoform X1

    See identical proteins and their annotated locations for XP_011535320.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  8. XM_017021507.2 → XP_016876996.1  protein unc-79 homolog isoform X4

    UniProtKB/TrEMBL
    G3V2U4

  9. XM_011537022.3 → XP_011535324.1  protein unc-79 homolog isoform X6

    See identical proteins and their annotated locations for XP_011535324.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  10. XM_017021508.2 → XP_016876997.1  protein unc-79 homolog isoform X5

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  11. XM_017021514.2 → XP_016877003.1  protein unc-79 homolog isoform X17

    UniProtKB/TrEMBL
    G3V2U4

  12. XM_017021506.2 → XP_016876995.1  protein unc-79 homolog isoform X3

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  13. XM_011537020.3 → XP_011535322.1  protein unc-79 homolog isoform X2

    See identical proteins and their annotated locations for XP_011535322.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  14. XM_017021510.2 → XP_016876999.1  protein unc-79 homolog isoform X10

    UniProtKB/TrEMBL
    G3V2U4

  15. XM_017021513.2 → XP_016877002.1  protein unc-79 homolog isoform X12

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  16. XM_017021516.2 → XP_016877005.1  protein unc-79 homolog isoform X21

    UniProtKB/TrEMBL
    G3V2U4

  17. XM_024449667.2 → XP_024305435.1  protein unc-79 homolog isoform X9

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:159 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  18. XM_011537024.3 → XP_011535326.1  protein unc-79 homolog isoform X13

    See identical proteins and their annotated locations for XP_011535326.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  19. XM_017021509.2 → XP_016876998.1  protein unc-79 homolog isoform X8

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  20. XM_047431622.1 → XP_047287578.1  protein unc-79 homolog isoform X11

  21. XM_011537023.3 → XP_011535325.1  protein unc-79 homolog isoform X7

    See identical proteins and their annotated locations for XP_011535325.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam07964
    Location:1539 → 2012
    Red1; Rec10 / Red1

  22. XM_047431625.1 → XP_047287581.1  protein unc-79 homolog isoform X19

  23. XM_047431623.1 → XP_047287579.1  protein unc-79 homolog isoform X14

  24. XM_017021517.2 → XP_016877006.1  protein unc-79 homolog isoform X25

    UniProtKB/TrEMBL
    G3V2U4

  25. XM_047431626.1 → XP_047287582.1  protein unc-79 homolog isoform X23

  26. XM_011537025.3 → XP_011535327.1  protein unc-79 homolog isoform X16

    See identical proteins and their annotated locations for XP_011535327.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:158 → 690
    UNC-79; Cation-channel complex subunit UNC-79

  27. XM_017021518.2 → XP_016877007.1  protein unc-79 homolog isoform X26

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  28. XM_011537029.3 → XP_011535331.1  protein unc-79 homolog isoform X28

    See identical proteins and their annotated locations for XP_011535331.1

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8
    Conserved Domains (1) summary
    pfam14776
    Location:6 → 277
    UNC-79; Cation-channel complex subunit UNC-79

  29. XM_017021519.2 → XP_016877008.1  protein unc-79 homolog isoform X27

    UniProtKB/Swiss-Prot
    B5MDL6, Q6ZUT7, Q9P2D8

  30. XM_017021520.2 → XP_016877009.1  protein unc-79 homolog isoform X29

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    447744..822438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329015.1 → XP_054184990.1  protein unc-79 homolog isoform X22

  2. XM_054329014.1 → XP_054184989.1  protein unc-79 homolog isoform X22

  3. XM_054329007.1 → XP_054184982.1  protein unc-79 homolog isoform X15

  4. XM_054329012.1 → XP_054184987.1  protein unc-79 homolog isoform X20

  5. XM_054329010.1 → XP_054184985.1  protein unc-79 homolog isoform X18

  6. XM_054329017.1 → XP_054184992.1  protein unc-79 homolog isoform X24

  7. XM_054328993.1 → XP_054184968.1  protein unc-79 homolog isoform X1

  8. XM_054328996.1 → XP_054184971.1  protein unc-79 homolog isoform X4

  9. XM_054328998.1 → XP_054184973.1  protein unc-79 homolog isoform X6

  10. XM_054328997.1 → XP_054184972.1  protein unc-79 homolog isoform X5

  11. XM_054329009.1 → XP_054184984.1  protein unc-79 homolog isoform X17

  12. XM_054328995.1 → XP_054184970.1  protein unc-79 homolog isoform X3

  13. XM_054328994.1 → XP_054184969.1  protein unc-79 homolog isoform X2

  14. XM_054329002.1 → XP_054184977.1  protein unc-79 homolog isoform X10

  15. XM_054329004.1 → XP_054184979.1  protein unc-79 homolog isoform X12

  16. XM_054329013.1 → XP_054184988.1  protein unc-79 homolog isoform X21

  17. XM_054329001.1 → XP_054184976.1  protein unc-79 homolog isoform X9

  18. XM_054329005.1 → XP_054184980.1  protein unc-79 homolog isoform X13

  19. XM_054329000.1 → XP_054184975.1  protein unc-79 homolog isoform X8

  20. XM_054329003.1 → XP_054184978.1  protein unc-79 homolog isoform X11

  21. XM_054328999.1 → XP_054184974.1  protein unc-79 homolog isoform X7

  22. XM_054329011.1 → XP_054184986.1  protein unc-79 homolog isoform X19

  23. XM_054329006.1 → XP_054184981.1  protein unc-79 homolog isoform X14

  24. XM_054329018.1 → XP_054184993.1  protein unc-79 homolog isoform X25

  25. XM_054329016.1 → XP_054184991.1  protein unc-79 homolog isoform X23

  26. XM_054329008.1 → XP_054184983.1  protein unc-79 homolog isoform X16

  27. XM_054329019.1 → XP_054184994.1  protein unc-79 homolog isoform X26

  28. XM_054329021.1 → XP_054184996.1  protein unc-79 homolog isoform X28

  29. XM_054329020.1 → XP_054184995.1  protein unc-79 homolog isoform X27

  30. XM_054329022.1 → XP_054184997.1  protein unc-79 homolog isoform X29

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    87565061..87935165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376484.1 → XP_054232459.1  protein unc-79 homolog isoform X22

  2. XM_054376483.1 → XP_054232458.1  protein unc-79 homolog isoform X22

  3. XM_054376476.1 → XP_054232451.1  protein unc-79 homolog isoform X15

  4. XM_054376481.1 → XP_054232456.1  protein unc-79 homolog isoform X20

  5. XM_054376479.1 → XP_054232454.1  protein unc-79 homolog isoform X18

  6. XM_054376486.1 → XP_054232461.1  protein unc-79 homolog isoform X24

  7. XM_054376462.1 → XP_054232437.1  protein unc-79 homolog isoform X1

  8. XM_054376465.1 → XP_054232440.1  protein unc-79 homolog isoform X4

  9. XM_054376467.1 → XP_054232442.1  protein unc-79 homolog isoform X6

  10. XM_054376466.1 → XP_054232441.1  protein unc-79 homolog isoform X5

  11. XM_054376478.1 → XP_054232453.1  protein unc-79 homolog isoform X17

  12. XM_054376464.1 → XP_054232439.1  protein unc-79 homolog isoform X3

  13. XM_054376463.1 → XP_054232438.1  protein unc-79 homolog isoform X2

  14. XM_054376471.1 → XP_054232446.1  protein unc-79 homolog isoform X10

  15. XM_054376473.1 → XP_054232448.1  protein unc-79 homolog isoform X12

  16. XM_054376482.1 → XP_054232457.1  protein unc-79 homolog isoform X21

  17. XM_054376470.1 → XP_054232445.1  protein unc-79 homolog isoform X9

  18. XM_054376474.1 → XP_054232449.1  protein unc-79 homolog isoform X13

  19. XM_054376469.1 → XP_054232444.1  protein unc-79 homolog isoform X8

  20. XM_054376472.1 → XP_054232447.1  protein unc-79 homolog isoform X11

  21. XM_054376468.1 → XP_054232443.1  protein unc-79 homolog isoform X7

  22. XM_054376480.1 → XP_054232455.1  protein unc-79 homolog isoform X19

  23. XM_054376475.1 → XP_054232450.1  protein unc-79 homolog isoform X14

  24. XM_054376487.1 → XP_054232462.1  protein unc-79 homolog isoform X25

  25. XM_054376485.1 → XP_054232460.1  protein unc-79 homolog isoform X23

  26. XM_054376477.1 → XP_054232452.1  protein unc-79 homolog isoform X16

  27. XM_054376488.1 → XP_054232463.1  protein unc-79 homolog isoform X26

  28. XM_054376490.1 → XP_054232465.1  protein unc-79 homolog isoform X28

  29. XM_054376489.1 → XP_054232464.1  protein unc-79 homolog isoform X27

  30. XM_054376491.1 → XP_054232466.1  protein unc-79 homolog isoform X29

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2D8.4 GenPept UniProtKB/Swiss-Prot:Q9P2D8

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