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Unc13a Gene Detail
Summary
  • Symbol
    Unc13a
  • Name
    unc-13 homolog A
  • Synonyms
    2410078G03Rik, Munc13-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3051532
    NCBI Gene: 382018
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:71624417-71671757 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47341 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 34.43 cM, cytoband B3.3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    UNC13A, unc-13 homolog A
  • Vertebrate Orthologs
    8
  • Human Ortholog
    UNC13A, unc-13 homolog A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    Munc13-1
  • Links
    NCBI Gene ID: 23025
    neXtProt AC: NX_Q9UPW8
    UniProt: Q9UPW8

  • Chr Location
    19p13.11; chr19:17601328-17688344 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 4 alleles in 3 genetic backgrounds
    10 phenotypes from multigenic genotypes
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutant mice do not feed and die within hours of birth and synaptic vesicle maturation is impaired. Mice homozygous for a knock-in allele exhibit slower rate of synaptic vesicle replenishment, aberrant short-term depression and reduced recoveryfrom synaptic depression.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000040153 VEGA Gene Model | MGI Sequence Detail 47341 C57BL/6J ±  kb
    transcript OTTMUST00000104365 VEGA | MGI Sequence Detail 5654 Not Applicable  
    polypeptide OTTMUSP00000058398 VEGA | MGI Sequence Detail 1731 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      344 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • InterPro Domains
      IPR000008 C2 domain
      IPR035892 C2 domain superfamily
      IPR010439 Calcium-dependent secretion activator domain
      IPR020454 Diacylglycerol/phorbol-ester binding
      IPR014772 Mammalian uncoordinated homology 13, domain 2
      IPR019558 Mammalian uncoordinated homology 13, subgroup, domain 2
      IPR014770 Munc13 homology 1
      IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
      IPR027080 Protein Unc-13
      IPR037302 Protein Unc-13, C2B domain
      IPR027082 Protein Unc-13 homologue A
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1920945
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 5
      Gene Ontology 21
      Phenotypes 37
    • Earliest
      J:56513 Augustin I, et al., Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles. Nature. 1999 Jul 29;400(6743):457-61
    • Latest
      J:256140 Sigler A, et al., Formation and Maintenance of Functional Spines in the Absence of Presynaptic Glutamate Release. Neuron. 2017 Apr 19;94(2):304-311.e4

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory