ENSG00000130477


Homo sapiens

Features
Gene ID: ENSG00000130477
  
Biological name :UNC13A
  
Synonyms : Q9UPW8 / UNC13A / unc-13 homolog A
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.11
Gene start: 17601328
Gene end: 17688365
  
Corresponding Affymetrix probe sets: 214817_at (Human Genome U133 Plus 2.0 Array)   227453_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429562
Ensembl peptide - ENSP00000446831
Ensembl peptide - ENSP00000447236
Ensembl peptide - ENSP00000447572
NCBI entrez gene - 23025     See in Manteia.
OMIM - 609894
RefSeq - XM_017026502
RefSeq - NM_001080421
RefSeq - XM_011527810
RefSeq - XM_011527811
RefSeq Peptide - NP_001073890
swissprot - Q9UPW8
swissprot - F8W059
swissprot - F8W0P6
swissprot - F8VZH8
Ensembl - ENSG00000130477
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:dkey-110c1.7ENSDARG00000061829Danio rerio
 Q4KUS2ENSMUSG00000034799Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O14795 / UNC13B / unc-13 homolog BENSG0000019872273
Q8NB66 / UNC13C / unc-13 homolog CENSG0000013776659


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR002219  Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
 IPR010439  Calcium-dependent secretion activator domain
 IPR014770  Munc13 homology 1
 IPR014772  Mammalian uncoordinated homology 13, domain 2
 IPR019558  Mammalian uncoordinated homology 13, subgroup, domain 2
 IPR027080  Protein Unc-13
 IPR027082  Protein Unc-13 homologue A
 IPR035892  C2 domain superfamily
 IPR037302  Protein Unc-13, C2B domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001956 positive regulation of neurotransmitter secretion IEA
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007269 neurotransmitter secretion ISS
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0016079 synaptic vesicle exocytosis IBA
 biological_processGO:0016081 synaptic vesicle docking IEA
 biological_processGO:0016082 synaptic vesicle priming IEA
 biological_processGO:0016188 synaptic vesicle maturation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031915 positive regulation of synaptic plasticity IEA
 biological_processGO:0035249 synaptic transmission, glutamatergic IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0048172 regulation of short-term neuronal synaptic plasticity IEA
 biological_processGO:0050435 amyloid-beta metabolic process IEA
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic TAS
 biological_processGO:0060384 innervation IEA
 biological_processGO:0099525 presynaptic dense core vesicle exocytosis IEA
 biological_processGO:1900451 positive regulation of glutamate receptor signaling pathway IEA
 biological_processGO:1902991 regulation of amyloid precursor protein catabolic process IEA
 biological_processGO:1903861 positive regulation of dendrite extension IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0042734 presynaptic membrane ISS
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043195 terminal bouton IBA
 cellular_componentGO:0044305 calyx of Held IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048786 presynaptic active zone IEA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005516 calmodulin binding ISS
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0017075 syntaxin-1 binding ISS
 molecular_functionGO:0019992 diacylglycerol binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047485 protein N-terminus binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
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 HP:0000712 Emotional lability 
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 HP:0000713 Agitation 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002094 Dyspnea 
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 HP:0002180 Neurodegeneration 
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 HP:0002878 Early respiratory failure 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003394 Muscle cramps 
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 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
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 HP:0005945 Laryngeal obstruction 
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 HP:0007354 Amyotrophic lateral sclerosis 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
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 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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