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UNC13A unc-13 homolog A [ Homo sapiens (human) ]

Gene ID: 23025, updated on 11-Apr-2024

Summary

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Official Symbol
UNC13Aprovided by HGNC
Official Full Name
unc-13 homolog Aprovided by HGNC
Primary source
HGNC:HGNC:23150
See related
Ensembl:ENSG00000130477 MIM:609894; AllianceGenome:HGNC:23150
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
Munc13-1
Summary
This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]
Expression
Biased expression in brain (RPKM 22.6), adrenal (RPKM 1.5) and 1 other tissue See more
Orthologs
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Genomic context

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See UNC13A in Genome Data Viewer
Location:
19p13.11
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17601336..17688354, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17735579..17822489, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17712145..17799163, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10355 Neighboring gene collagen beta(1-O)galactosyltransferase 1 Neighboring gene Sharpr-MPRA regulatory region 8704 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17709342-17709923 Neighboring gene ribosomal protein L21 pseudogene 130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17715726-17716630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17716631-17717535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17797343-17798304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17798305-17799265 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17812168-17812395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17828319-17828820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14283 Neighboring gene uncharacterized LOC124904649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17849672-17850172 Neighboring gene microtubule associated protein 1S Neighboring gene Sharpr-MPRA regulatory region 7159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10359 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:17864444-17864964 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:17864965-17865484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14284 Neighboring gene MPRA-validated peak3395 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17877027-17877564 Neighboring gene FCH and mu domain containing endocytic adaptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14285

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. Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1. You Y, et al. Biochemistry, 2021 Apr 27. PMID 33818064, Free PMC Article
  2. The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. Tan HHG, et al. Ann Neurol, 2020 Oct. PMID 32627229, Free PMC Article
  3. UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis. Yang B, et al. Neurol Sci, 2019 Nov. PMID 31201598
  4. UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. Placek K, et al. Neurobiol Aging, 2019 Jan. PMID 30368160, Free PMC Article
  5. Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Gaastra B, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2016 Oct-Nov. PMID 27584932, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
    Title: Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
  2. Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment.
    Title: Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment.
  3. TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
    Title: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
  4. TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
    Title: TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
  5. Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1.
    Title: Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1.
  6. The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.
    Title: The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.
  7. rs12608932(C) is associated with increased ALS susceptibility, especially in Caucasian and European subjects, and that the CC genotype of rs12608932 is associated with reduced ALS patient survival.
    Title: UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis.
  8. Its polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.
    Title: UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.
  9. This study demonstrated that the population specific rare variants of UNC13A may modulate survival in ALS in United kingdom.
    Title: Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis.
  10. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
    Title: Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

EBI GWAS Catalog

Description
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
EBI GWAS Catalog
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
EBI GWAS Catalog
C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis.
EBI GWAS Catalog
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

  • KIAA1032

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables diacylglycerol binding IEA
Inferred from Electronic Annotation
more info
  
enables phospholipid binding IEA
Inferred from Electronic Annotation
more info
  
enables syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables syntaxin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in dense core granule priming IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuronal dense core vesicle exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in presynaptic dense core vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic transmission, glutamatergic TAS
Traceable Author Statement
more info
 PubMed 
involved_in synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynaptic active zone TAS
Traceable Author Statement
more info
 PubMed 
is_active_in presynaptic active zone cytoplasmic component IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein unc-13 homolog A

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_052872.1 RefSeqGene

    Range
    4991..92009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080421.3 → NP_001073890.2  protein unc-13 homolog A isoform 1

    See identical proteins and their annotated locations for NP_001073890.2

    Status: REVIEWED

    Source sequence(s)
    AC008761
    Consensus CDS
    CCDS46013.2
    UniProtKB/Swiss-Prot
    E5RHY9, Q9UPW8
    UniProtKB/TrEMBL
    F8W059
    Related
    ENSP00000429562.2, ENST00000519716.7
    Conserved Domains (6) summary
    cd04027
    Location:676 → 802
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1 → 127
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:1546 → 1665
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    cd00029
    Location:554 → 603
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    pfam06292
    Location:994 → 1102
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:1347 → 1508
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

  2. NM_001387021.1 → NP_001373950.1  protein unc-13 homolog A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008761
    UniProtKB/TrEMBL
    F8W059
    Conserved Domains (6) summary
    cd04027
    Location:674 → 800
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1 → 127
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:1542 → 1661
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    pfam06292
    Location:992 → 1100
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:1344 → 1504
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cd20859
    Location:533 → 614
    C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins

  3. NM_001387022.1 → NP_001373951.1  protein unc-13 homolog A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008761
    UniProtKB/TrEMBL
    F8W059
    Conserved Domains (6) summary
    cd04027
    Location:674 → 800
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1 → 127
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:1541 → 1660
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    pfam06292
    Location:992 → 1100
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:1343 → 1503
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cd20859
    Location:533 → 614
    C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins

  4. NM_001387023.1 → NP_001373952.1  protein unc-13 homolog A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC008761
    Consensus CDS
    CCDS92557.1
    UniProtKB/TrEMBL
    F8VZH8, F8W0P6
    Related
    ENSP00000446831.1, ENST00000550896.1
    Conserved Domains (6) summary
    cd04027
    Location:674 → 800
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1 → 127
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:1519 → 1638
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    pfam06292
    Location:992 → 1100
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:1344 → 1481
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    cd20859
    Location:533 → 614
    C1_Munc13-2-like; protein kinase C conserved region 1 (C1 domain) found in Munc13-2, Munc13-3 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    17601336..17688354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527810.3 → XP_011526112.1  protein unc-13 homolog A isoform X2

    UniProtKB/TrEMBL
    F8W059
    Conserved Domains (6) summary
    cd04027
    Location:666 → 792
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1 → 117
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:1536 → 1655
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    cd00029
    Location:544 → 593
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    pfam06292
    Location:984 → 1092
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:1337 → 1498
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

  2. XM_017026502.2 → XP_016881991.1  protein unc-13 homolog A isoform X1

    UniProtKB/TrEMBL
    F8W059

  3. XM_011527811.3 → XP_011526113.1  protein unc-13 homolog A isoform X3

    UniProtKB/TrEMBL
    F8W0P6
    Related
    ENSP00000447572.1, ENST00000552293.5
    Conserved Domains (6) summary
    cd04027
    Location:676 → 802
    C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
    cd08394
    Location:1 → 127
    C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
    cd08395
    Location:1523 → 1642
    C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
    cd00029
    Location:554 → 603
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    pfam06292
    Location:994 → 1102
    DUF1041; Domain of Unknown Function (DUF1041)
    pfam10540
    Location:1347 → 1485
    Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17735579..17822489 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320278.1 → XP_054176253.1  protein unc-13 homolog A isoform X2

  2. XM_054320277.1 → XP_054176252.1  protein unc-13 homolog A isoform X1

  3. XM_054320279.1 → XP_054176254.1  protein unc-13 homolog A isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UPW8.4 GenPept UniProtKB/Swiss-Prot:Q9UPW8

Gene LinkOut

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