ENSMUSG00000028456


Mus musculus

Features
Gene ID: ENSMUSG00000028456
  
Biological name :Unc13b
  
Synonyms : Q9Z1N9 / Unc13b / unc-13 homolog B (C. elegans)
  
Possible biological names infered from orthology : O14795 / unc-13 homolog B
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: A5
Gene start: 43058953
Gene end: 43264871
  
Corresponding Affymetrix probe sets: 10504234 (MoGene1.0st)   1417757_at (Mouse Genome 430 2.0 Array)   1443308_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000132622
Ensembl peptide - ENSMUSP00000128638
Ensembl peptide - ENSMUSP00000146589
Ensembl peptide - ENSMUSP00000147100
Ensembl peptide - ENSMUSP00000078894
Ensembl peptide - ENSMUSP00000103586
Ensembl peptide - ENSMUSP00000103587
Ensembl peptide - ENSMUSP00000128608
NCBI entrez gene - 22249     See in Manteia.
MGI - MGI:1342278
RefSeq - XM_017320118
RefSeq - XM_006537788
RefSeq - XM_006537789
RefSeq - XM_006537790
RefSeq - XM_006537791
RefSeq - XM_006537794
RefSeq - XM_006537795
RefSeq - XM_017320115
RefSeq - XM_017320116
RefSeq - XM_017320117
RefSeq - NM_001081413
RefSeq - NM_001310758
RefSeq - NM_021468
RefSeq - XM_006537786
RefSeq Peptide - NP_001297687
RefSeq Peptide - NP_067443
RefSeq Peptide - NP_001074882
swissprot - A0A140LJ69
swissprot - E9Q263
swissprot - Q9Z1N9
swissprot - A0A140LHX5
swissprot - F6X605
swissprot - F7CEK4
Ensembl - ENSMUSG00000028456
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 unc13baENSDARG00000017391Danio rerio
 unc-13 homolog BENSDARG00000099113Danio rerio
 UNC13BENSGALG00000002165Gallus gallus
 O14795ENSG00000198722Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q4KUS2 / Unc13a / unc-13 homolog A (C. elegans) / Q9UPW8* / unc-13 homolog A*ENSMUSG0000003479978
Q8K0T7 / Unc13c / unc-13 homolog C (C. elegans) / Q8NB66* / unc-13 homolog C*ENSMUSG0000006215161


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
 IPR035892  C2 domain superfamily
 IPR037302  Protein Unc-13, C2B domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007528 neuromuscular junction development IGI
 biological_processGO:0010808 positive regulation of synaptic vesicle priming ISS
 biological_processGO:0016081 synaptic vesicle docking IGI
 biological_processGO:0016082 synaptic vesicle priming IGI
 biological_processGO:0031914 negative regulation of synaptic plasticity IGI
 biological_processGO:0035249 synaptic transmission, glutamatergic IMP
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0048172 regulation of short-term neuronal synaptic plasticity IMP
 biological_processGO:0050714 positive regulation of protein secretion IEA
 biological_processGO:0060384 innervation IGI
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0090382 phagosome maturation IMP
 biological_processGO:0097151 positive regulation of inhibitory postsynaptic potential ISS
 biological_processGO:0099525 presynaptic dense core vesicle exocytosis IMP
 biological_processGO:1900426 positive regulation of defense response to bacterium IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031594 neuromuscular junction IDA
 cellular_componentGO:0032009 early phagosome IDA
 cellular_componentGO:0043195 terminal bouton IBA
 cellular_componentGO:0044305 calyx of Held ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048786 presynaptic active zone IDA
 cellular_componentGO:0097470 ribbon synapse IDA
 cellular_componentGO:0098793 presynapse IDA
 molecular_functionGO:0001566 non-kinase phorbol ester receptor activity TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0019992 diacylglycerol binding IEA
 molecular_functionGO:0030742 GTP-dependent protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000951 sporadic seizures "occasional seizures occuring at irregular intervals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 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]
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Allelic Composition: Unc13atm2Bros/Unc13atm2Bros
Genetic Background: Not Specified

 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

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

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Vegfatm2Gne/Vegfatm2Gne,Tg(Nphs1-cre)1Seq/0
Genetic Background: involves: 129/Sv

 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

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

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

 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

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

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

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

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

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Sufutm1b(KOMP)Wtsi/Sufutm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Sufutm1b(KOMP)Wtsi/Ucd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000034156 Q7TNF8 / Tspoap1 / Peripheral-type benzodiazepine receptor-associated protein 1 / O95153* / TSPO associated protein 1*  / complex
 ENSMUSG00000026458 Ppfia4 / protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 / O75335* / PTPRF interacting protein alpha 4*  / complex
 ENSMUSG00000003863 P60469 / Ppfia3 / protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 / O75145* / PTPRF interacting protein alpha 3*  / complex
 ENSMUSG00000037519 Ppfia1 / protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 / Q13136* / PTPRF interacting protein alpha 1*  / complex
 ENSMUSG00000053825 Ppfia2 / protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 / O75334* / PTPRF interacting protein alpha 2*  / complex






 

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