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Gabra1 Gene Detail
Summary
  • Symbol
    Gabra1
  • Name
    gamma-aminobutyric acid type A receptor subunit alpha 1
  • Synonyms
    GABAA alpha 1, GABAAR alpha1, Gabra-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95613
    NCBI Gene: 14394
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:42021766-42073757 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 24.97 cM
  • Mapping Data
    30 experiments
Strain
Comparison
more
  • SNPs within 2kb
    352 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95613
 protein coding gene Chr11:42021766-42073893 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018166
 protein coding gene Chr11:40812348-40868958 (-)
A/J MGP_AJ_G0018138
 protein coding gene Chr11:39262403-39314376 (-)
AKR/J MGP_AKRJ_G0018102
 protein coding gene Chr11:40400435-40467937 (-)
BALB/cJ MGP_BALBcJ_G0018107
 protein coding gene Chr11:39442736-39494945 (-)
C3H/HeJ MGP_C3HHeJ_G0017920
 protein coding gene Chr11:40443402-40497982 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018561
 protein coding gene Chr11:42089856-42145958 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016216
 protein coding gene Chr11:37417252-37469785 (-)
CAST/EiJ MGP_CASTEiJ_G0017484
 protein coding gene Chr11:40463758-40523424 (-)
CBA/J MGP_CBAJ_G0017893
 protein coding gene Chr11:43997764-44057434 (-)
DBA/2J MGP_DBA2J_G0018003
 protein coding gene Chr11:39031382-39087484 (-)
FVB/NJ MGP_FVBNJ_G0017997
 protein coding gene Chr11:38782353-38834400 (-)
LP/J MGP_LPJ_G0018075
 protein coding gene Chr11:41047450-41108075 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018021
 protein coding gene Chr11:45521580-45603637 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018600
 protein coding gene Chr11:40533381-40589049 (-)
PWK/PhJ MGP_PWKPhJ_G0017265
 protein coding gene Chr11:39058205-39112123 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017057
 protein coding gene Chr11:40309830-40365677 (-)
WSB/EiJ MGP_WSBEiJ_G0017533
 protein coding gene Chr11:40195471-40252048 (-)



Homology
more
  • Human Ortholog
    GABRA1, gamma-aminobutyric acid type A receptor subunit alpha1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRA1, gamma-aminobutyric acid type A receptor subunit alpha1
  • Synonyms
    DEE19, ECA4, EIEE19, EJM, EJM5
  • Links
    NCBI Gene ID: 2554
    neXtProt AC: NX_P14867
    UniProt: P14867

  • Chr Location
    5q34; chr5:161847063-161899981 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gabra1 mouse models; 2 with human GABRA1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 10 alleles in 13 genetic backgrounds
    6 phenotypes from multigenic genotypes
    75 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.
Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    18
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
non-membrane-bounded 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
    828
  • Tissues
    63
  • cDNA Data
    14
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000010803 Ensembl Gene Model | MGI Sequence Detail 51992 C57BL/6J ±  kb
    transcript ENSMUST00000205546 Ensembl | MGI Sequence Detail 4045 Not Applicable  
    polypeptide ENSMUSP00000146133 Ensembl | MGI Sequence Detail 455 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000007766 gamma-aminobutyric acid receptor subunit alpha-1
      (term hierarchy)
    • PDB
      5OSA, 5OSB, 5OSC, 8FOI, 8G4N, 8G4O, 8G4X, 8G5F, 8G5G, 8G5H
    • InterPro Domains
      IPR005431 Gamma-aminobutyric-acid A receptor, alpha 1 subunit
      IPR001390 Gamma-aminobutyric-acid A receptor, alpha subunit
      IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
      IPR047024 Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain
      IPR047079 Gamma-aminobutyric acid receptor subunit alpha-1, extracellular domain
      IPR038050 Neuronal acetylcholine receptor
      IPR006201 Neurotransmitter-gated ion-channel
      IPR018000 Neurotransmitter-gated ion-channel, conserved site
      IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
      IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
      IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
      IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 15
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9922, MGD-MRK-9927
    References
    more
    • Summaries
      All 200
      Developmental Gene Expression 23
      Diseases 3
      Gene Ontology 18
      Phenotypes 75
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:340825 Zhang Q, et al., Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. Exp Neurol. 2023 Sep 11;369:114537
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory