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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
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:71626712-71671775 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 34.43 cM, cytoband B3.3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    326 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3051532
protein coding gene Chr8:71624417-71671775 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033759
protein coding gene Chr8:72037715-72084743 (-)
A/J MGP_AJ_G0033742
protein coding gene Chr8:69099030-69148052 (-)
AKR/J MGP_AKRJ_G0033668
protein coding gene Chr8:71141141-71197516 (-)
BALB/cJ MGP_BALBcJ_G0033738
protein coding gene Chr8:69272754-69323714 (-)
C3H/HeJ MGP_C3HHeJ_G0033448
protein coding gene Chr8:71719924-71769306 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034256
protein coding gene Chr8:74779533-74829128 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031198
protein coding gene Chr8:63734488-63783207 (-)
CAST/EiJ MGP_CASTEiJ_G0032773
protein coding gene Chr8:71180617-71228096 (-)
CBA/J MGP_CBAJ_G0033426
protein coding gene Chr8:77424915-77476272 (-)
DBA/2J MGP_DBA2J_G0033580
protein coding gene Chr8:68827199-68874090 (-)
FVB/NJ MGP_FVBNJ_G0033522
protein coding gene Chr8:67916325-67967340 (-)
LP/J MGP_LPJ_G0033667
protein coding gene Chr8:72009557-72057953 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033569
protein coding gene Chr8:79969211-80016880 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034273
protein coding gene Chr8:71205189-71252873 (-)
PWK/PhJ MGP_PWKPhJ_G0032480
protein coding gene Chr8:68112086-68163454 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032317
protein coding gene Chr8:70150004-70199678 (-)
WSB/EiJ MGP_WSBEiJ_G0032889
protein coding gene Chr8:71552959-71600343 (-)



Homology
more
  • Human Ortholog
    UNC13A, unc-13 homolog A
  • Vertebrate Orthologs
    8
  • Human Ortholog
    UNC13A, unc-13 homolog A
    Orthology source: HomoloGene, HGNC
  • 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 382018 NCBI Gene Model | MGI Sequence Detail 45064 C57BL/6J ±  kb
    transcript NM_001029873 RefSeq | MGI Sequence Detail 7983 C57BL/6  
    polypeptide Q4KUS2 UniProt | EBI | MGI Sequence Detail 1712 Not Applicable  
    For the selected sequence
    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 22
      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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory