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Slc32a1 Gene Detail
Summary
  • Symbol
    Slc32a1
  • Name
    solute carrier family 32 (GABA vesicular transporter), member 1
  • Synonyms
    R75019, VGAT, Viaat
  • Feature Type
    protein coding gene
  • IDs
    MGI:1194488
    NCBI Gene: 22348
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:158452687-158457668 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 78.72 cM, cytoband H1-3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    217 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1194488
 protein coding gene Chr2:158449158-158457668 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026797
 protein coding gene Chr2:163694744-163699725 (+)
A/J MGP_AJ_G0026763
 protein coding gene Chr2:157127748-157132729 (+)
AKR/J MGP_AKRJ_G0026734
 protein coding gene Chr2:161753122-161758103 (+)
BALB/cJ MGP_BALBcJ_G0026772
 protein coding gene Chr2:157437260-157442297 (+)
C3H/HeJ MGP_C3HHeJ_G0026514
 protein coding gene Chr2:162105031-162110012 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027221
 protein coding gene Chr2:168571729-168576710 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024591
 protein coding gene Chr2:150567880-150572854 (+)
CAST/EiJ MGP_CASTEiJ_G0025976
 protein coding gene Chr2:162450305-162455299 (+)
CBA/J MGP_CBAJ_G0026491
 protein coding gene Chr2:174611505-174616486 (+)
DBA/2J MGP_DBA2J_G0026629
 protein coding gene Chr2:156303477-156308458 (+)
FVB/NJ MGP_FVBNJ_G0026596
 protein coding gene Chr2:154720304-154725294 (+)
LP/J MGP_LPJ_G0026732
 protein coding gene Chr2:163787863-163792844 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026617
 protein coding gene Chr2:178395202-178400183 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027277
 protein coding gene Chr2:161589034-161594016 (+)
PWK/PhJ MGP_PWKPhJ_G0025710
 protein coding gene Chr2:155840418-155845416 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025513
 protein coding gene Chr2:160513303-160519490 (+)
WSB/EiJ MGP_WSBEiJ_G0026046
 protein coding gene Chr2:162481684-162487854 (+)



Homology
more
  • Human Ortholog
    SLC32A1, solute carrier family 32 member 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC32A1, solute carrier family 32 member 1
  • Synonyms
    DEE114, GEFSP12, VGAT, VIAAT, VIAAT GEFSP12
  • Links
    NCBI Gene ID: 140679
    neXtProt AC: NX_Q9H598
    UniProt: Q9H598

  • Chr Location
    20q11.23; chr20:38724486-38729372 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc32a1 mouse models; 2 with human SLC32A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 5 alleles in 7 genetic backgrounds
    21 phenotypes from multigenic genotypes
    2 images
    543 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 null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    17
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
    1203
  • Tissues
    243
  • cDNA Data
    17
  • Literature Summary
    120
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037771 Ensembl Gene Model | MGI Sequence Detail 4982 C57BL/6J ±  kb
    transcript ENSMUST00000045738 Ensembl | MGI Sequence Detail 2797 Not Applicable  
    polypeptide ENSMUSP00000036299 Ensembl | MGI Sequence Detail 525 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000015084 vesicular inhibitory amino acid transporter
      (term hierarchy)
    • InterPro Domains
      IPR013057 Amino acid transporter, transmembrane domain
    • GlyGen
      O35633 4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 1
      cDNA 19
      Primer pair 4
      Other 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2139541
    References
    more
    • Summaries
      All 703
      Developmental Gene Expression 120
      Diseases 1
      Gene Ontology 17
      Phenotypes 543
    • Earliest
      J:44006 Sagne C, et al., Cloning of a functional vesicular GABA and glycine transporter by screening of genome databases. FEBS Lett. 1997 Nov 10;417(2):177-83
    • Latest
      J:359074 Miranda NC, et al., Sleep-related respiratory disruptions and laterodorsal tegmental nucleus in a mouse model of Parkinson's disease. iScience. 2024 Nov 15;27(11):111251
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory