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

Gene ID: 23025, updated on 12-Aug-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 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
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 
presynaptic dense core vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
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 transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle docking IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle maturation IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
calyx of Held IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm 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 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
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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