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Gabra1 Gene Detail
Summary
  • Symbol
    Gabra1
  • Name
    gamma-aminobutyric acid (GABA) 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
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:42130939-42182930 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95613
protein coding gene Chr11:42130939-42183380 (-)
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 alpha1 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GABRA1, gamma-aminobutyric acid type A receptor alpha1 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ECA4, EIEE19, EJM, EJM5
  • Links
    NCBI Gene ID: 2554
    neXtProt AC: NX_P14867
    UniProt: P14867

  • Chr Location
    5q34; chr5:161847191-161899959 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 629
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: GABRA1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gabra1 mouse models; 1 with human GABRA1 associations

Human Disease Mouse Models
      
IDs
View 3 models
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 11 alleles in 14 genetic backgrounds
    5 phenotypes from multigenic genotypes
    62 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.
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
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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
    less
    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
    • PDB
    • 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
      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 172
      Developmental Gene Expression 18
      Diseases 3
      Gene Ontology 13
      Phenotypes 62
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:265620 Wu M, et al., Impairment of Inhibitory Synapse Formation and Motor Behavior in Mice Lacking the NL2 Binding Partner LHFPL4/GARLH4. Cell Rep. 2018 May 8;23(6):1691-1705

    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