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

    Gene ID: 23025, updated on 2-Oct-2018

    Summary

    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; Vega:OTTHUMG00000163877
    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

    Genomic context

    See UNC13A in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (17601328..17688344, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17712137..17799123, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 129 member C Neighboring gene collagen beta(1-O)galactosyltransferase 1 Neighboring gene ribosomal protein L21 pseudogene 130 Neighboring gene microtubule associated protein 1S Neighboring gene FCH domain only 1

    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 Jun 15 11:32:44 2016

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1032

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    diacylglycerol binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    syntaxin-1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    syntaxin-1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    amyloid-beta metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    dense core granule priming IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    innervation IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of dendrite extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glutamate receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neurotransmitter secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic dense core vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of amyloid precursor protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of short-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic transmission, glutamatergic TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic vesicle docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic vesicle maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptic vesicle priming IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    calyx of Held IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    presynaptic active zone TAS
    Traceable Author Statement
    more info
    PubMed 
    presynaptic active zone cytoplasmic component IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    presynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    presynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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_052872.1 RefSeqGene

      Range
      5146..92017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080421.2NP_001073890.2  protein unc-13 homolog A

      See identical proteins and their annotated locations for NP_001073890.2

      Status: REVIEWED

      Source sequence(s)
      AB028955, AC008761, DA236619, R60139
      Consensus CDS
      CCDS46013.2
      UniProtKB/Swiss-Prot
      Q9UPW8
      Related
      ENSP00000429562.2, OTTHUMP00000225261, ENST00000519716.6, OTTHUMT00000376169
      Conserved Domains (6) summary
      cd04027
      Location:676802
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:15461665
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:554603
      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:9941102
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:13471508
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      17601328..17688344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527810.2XP_011526112.1  protein unc-13 homolog A isoform X2

      Conserved Domains (6) summary
      cd04027
      Location:666792
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1117
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:15361655
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:544593
      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:9841092
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:13371498
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
    2. XM_017026502.1XP_016881991.1  protein unc-13 homolog A isoform X1

    3. XM_011527811.2XP_011526113.1  protein unc-13 homolog A isoform X3

      Related
      ENSP00000446831.1, OTTHUMP00000240858, ENST00000550896.1, OTTHUMT00000403618
      Conserved Domains (6) summary
      cd04027
      Location:676802
      C2B_Munc13; C2 domain second repeat in Munc13 (mammalian uncoordinated) proteins
      cd08394
      Location:1127
      C2A_Munc13; C2 domain first repeat in Munc13 (mammalian uncoordinated) proteins
      cd08395
      Location:15231642
      C2C_Munc13; C2 domain third repeat in Munc13 (mammalian uncoordinated) proteins
      cd00029
      Location:554603
      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:9941102
      DUF1041; Domain of Unknown Function (DUF1041)
      pfam10540
      Location:13471485
      Membr_traf_MHD; Munc13 (mammalian uncoordinated) homology domain
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