Homo sapiens Gene: UNC13A
Summary
InnateDB Gene IDBG-36944.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UNC13A
Gene Name unc-13 homolog A (C. elegans)
Synonyms Munc13-1
Species Homo sapiens
Ensembl Gene ENSG00000130477
Encoded Proteins
unc-13 homolog A (C. elegans)
unc-13 homolog A (C. elegans)
unc-13 homolog A (C. elegans)
unc-13 homolog A (C. elegans)
unc-13 homolog A (C. elegans)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:17601328-17688365
Strand Reverse strand
Band p13.11
Transcripts
ENST00000252773 ENSP00000252773
ENST00000519716 ENSP00000429562
ENST00000523229
ENST00000517497
ENST00000551649 ENSP00000447236
ENST00000552293 ENSP00000447572
ENST00000550896 ENSP00000446831
ENST00000601528
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0019992 diacylglycerol binding
GO:0046872 metal ion binding
Biological Process
GO:0001956 positive regulation of neurotransmitter secretion
GO:0007268 synaptic transmission
GO:0007528 neuromuscular junction development
GO:0016081 synaptic vesicle docking involved in exocytosis
GO:0016188 synaptic vesicle maturation
GO:0035249 synaptic transmission, glutamatergic
GO:0035556 intracellular signal transduction
GO:0048172 regulation of short-term neuronal synaptic plasticity
GO:0050435 beta-amyloid metabolic process
GO:0060384 innervation
Cellular Component
GO:0005737 cytoplasm
GO:0030054 cell junction
GO:0030424 axon
GO:0031594 neuromuscular junction
GO:0042734 presynaptic membrane
GO:0045202 synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL F8VZH8
UniProt Splice Variant
Entrez Gene 23025
UniGene Hs.164502 Hs.609523 Hs.627111
RefSeq NM_001080421 XM_006722692
HUGO HGNC:23150
OMIM 609894
CCDS CCDS46013
HPRD
IMGT
EMBL AC008761
GenPept
RNA Seq Atlas 23025