ENSMUSG00000034799


Mus musculus

Features
Gene ID: ENSMUSG00000034799
  
Biological name :Unc13a
  
Synonyms : Q4KUS2 / Unc13a / unc-13 homolog A (C. elegans)
  
Possible biological names infered from orthology : Q9UPW8 / unc-13 homolog A
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: B3.3
Gene start: 71624417
Gene end: 71671757
  
Corresponding Affymetrix probe sets: 10579548 (MoGene1.0st)   10579550 (MoGene1.0st)   10579554 (MoGene1.0st)   1437472_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000135189
Ensembl peptide - ENSMUSP00000030170
Ensembl peptide - ENSMUSP00000135032
Ensembl peptide - ENSMUSP00000135528
Ensembl peptide - ENSMUSP00000135578
NCBI entrez gene - 382018     See in Manteia.
MGI - MGI:3051532
RefSeq - XM_017312883
RefSeq - XM_017312877
RefSeq - XM_017312878
RefSeq - XM_017312879
RefSeq - XM_017312880
RefSeq - XM_017312881
RefSeq - XM_017312882
RefSeq - NM_001029873
RefSeq - XM_006509692
RefSeq - XM_006509693
RefSeq - XM_017312874
RefSeq - XM_017312875
RefSeq Peptide - NP_001025044
swissprot - H3BKU4
swissprot - H3BKY4
swissprot - H3BJZ7
swissprot - H3BJL3
swissprot - Q4KUS2
Ensembl - ENSMUSG00000034799
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:dkey-110c1.7ENSDARG00000061829Danio rerio
 Q9UPW8ENSG00000130477Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Z1N9 / Unc13b / unc-13 homolog B (C. elegans) / O14795* / unc-13 homolog B*ENSMUSG0000002845673
Q8K0T7 / Unc13c / unc-13 homolog C (C. elegans) / Q8NB66* / unc-13 homolog C*ENSMUSG0000006215159


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
 IPR020454  Diacylglycerol/phorbol-ester binding
 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 IMP
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007269 neurotransmitter secretion ISS
 biological_processGO:0007528 neuromuscular junction development IGI
 biological_processGO:0010807 regulation of synaptic vesicle priming TAS
 biological_processGO:0016081 synaptic vesicle docking IGI
 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 IGI
 biological_processGO:0035249 synaptic transmission, glutamatergic IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0048172 regulation of short-term neuronal synaptic plasticity IMP
 biological_processGO:0050435 amyloid-beta metabolic process IMP
 biological_processGO:0060384 innervation IGI
 biological_processGO:0099525 presynaptic dense core vesicle exocytosis IGI
 biological_processGO:1900451 positive regulation of glutamate receptor signaling pathway IMP
 biological_processGO:1902991 regulation of amyloid precursor protein catabolic process IMP
 biological_processGO:1903861 positive regulation of dendrite extension IEA
 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 IDA
 cellular_componentGO:0031594 neuromuscular junction IDA
 cellular_componentGO:0042734 presynaptic membrane ISS
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043195 terminal bouton IBA
 cellular_componentGO:0044305 calyx of Held IDA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0048786 presynaptic active zone IDA
 cellular_componentGO:0098793 presynapse IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 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
 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
Show

Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Rbpjtm1Hon/Rbpjtm1Hon
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001898 abnormal long term depression "change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science:ISBN 0-8385-8034-3]
Show

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: Not Specified

 MP:0002082 postnatal lethality "premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Stx1btm1.1Sud/Stx1btm1.1Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Rbpjtm1Hon/Rbpjtm1Hon
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Unc13atm4.1Bros/Unc13atm4.1Bros
Genetic Background: involves: FVB/N

 MP:0002910 abnormal excitatory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

Allelic Composition: Unc13atm2Bros/Unc13a+,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: involves: FVB/N

 MP:0002917 decreased synaptic depression "decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Unc13atm4.1Bros/Unc13atm4.1Bros
Genetic Background: involves: FVB/N

 MP:0003059 decreased insulin secretion "less than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Unc13atm1Bros/Unc13a+
Genetic Background: Not Specified

 MP:0003635 abnormal synaptic transmission "defect in the communication from a neuron to a target across a synapse " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0003990 decreased neurotransmitter release "reduced secretion of endogenous signaling molecules normally secreted by neurons that alter the behavior of neurons or effector cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Rbpjtm1Hon/Rbpjtm1Hon
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

 MP:0004769 abnormal synaptic vesicle morphology "any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc13atm2Bros/Unc13a+,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: involves: FVB/N

 MP:0004770 abnormal synaptic vesicle recycling "any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: involves: FVB/N

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

Allelic Composition: Unc13atm1Bros/Unc13atm1Bros
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13a+,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: involves: FVB/N

 MP:0004811 abnormal neuron physiology "anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]
Show

Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

Allelic Composition: Unc13atm4.1Bros/Unc13atm4.1Bros
Genetic Background: involves: FVB/N

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm1Bros/Unc13a+
Genetic Background: Not Specified

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Unc13atm1Bros/Unc13a+
Genetic Background: Not Specified

 MP:0005574 decreased breathing frequency "fewer than the normal number of breaths in a given period of time" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Cd19tm1(cre)Cgn/Cd19+,Rbpjtm1Hon/Rbpjtm1Hon
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Unc13atm1Bros/Unc13atm1Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Unc13atm1Bros/Unc13atm1Bros
Genetic Background: Not Specified

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Unc13atm1Bros/Unc13atm1Bros
Genetic Background: Not Specified

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Unc13atm1Bros/Unc13atm1Bros,Unc13btm1Rmnd/Unc13btm1Rmnd
Genetic Background: Not Specified

Allelic Composition: Unc13atm1Bros/Unc13atm1Bros
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: Not Specified

Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: involves: FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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