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Unc13a Gene Detail
Summary
  • Symbol
    Unc13a
  • Name
    unc-13 homolog A (C. elegans)
  • Synonyms
    2410078G03Rik, Munc13-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3051532
    NCBI Gene: 382018
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
Homology
more
  • Human Ortholog
    UNC13A, unc-13 homolog A (C. elegans)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    UNC13A, unc-13 homolog A (C. elegans)
    Orthology source: HomoloGene
  • Synonyms
    Munc13-1
  • Links
    NCBI Gene ID: 23025
    neXtProt AC: NX_Q9UPW8

  • Chr Location
    19p13.11; chr19:17601328-17688353 (-)  GRCh38.p2

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

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

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    10
  • Targeted
    5
  • Genomic Mutations
    1 involving Unc13a
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    344 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000017086 protein unc-13 homolog A
  • InterPro Domains
    IPR000008 C2 domain
    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 Uncoordinated protein 13 (Unc-13)
Molecular
Reagents
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  • All nucleic 11
    cDNA 11

    Microarray probesets 3
Other
Accession IDs
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MGI:1920945
References
more
  • Summaries
    All 59
    Developmental Gene Expression 3
    Gene Ontology 16
    Phenotypes 31
  • 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:223843 Vogl C, et al., Unconventional molecular regulation of synaptic vesicle replenishment in cochlear inner hair cells. J Cell Sci. 2015 Feb 15;128(4):638-44

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
05/17/2016
MGI 6.03
The Jackson Laboratory