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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
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:72079356-72124418 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.43 cM, cytoband B3.3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    978 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 Chr8:72077061-72124418 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UNC13A, unc-13 homolog A
  • Synonyms
    Munc13-1
  • Links
    NCBI Gene ID: 23025
    neXtProt AC: NX_Q9UPW8
    UniProt: Q9UPW8

  • Chr Location
    19p13.11; chr19:17601336-17688365 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human UNC13A associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 4 alleles in 4 genetic backgrounds
    10 phenotypes from multigenic genotypes
    52 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
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
neoplasm
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 recovery from synaptic depression.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    77
  • GO References
    24
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    781
  • Tissues
    11
  • cDNA Data
    12
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 382018 NCBI Gene Model | MGI Sequence Detail 45063 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
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1920945
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 6
      Gene Ontology 24
      Phenotypes 52
    • 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:337248 Papantoniou C, et al., Munc13- and SNAP25-dependent molecular bridges play a key role in synaptic vesicle priming. Sci Adv. 2023 Jun 23;9(25):eadf6222
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory