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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
Location & Maps
more
  • Sequence Map
    Chr11:42130939-42182930 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51992 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 24.97 cM
  • Mapping Data
    30 experiments
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
  • Synonyms
    ECA4, EIEE19, EJM, EJM5
  • Links
    NCBI Gene ID: 2554
    neXtProt AC: NX_P14867

  • Chr Location
    5q34; chr5:161847191-161899959 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 629
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: GABRA1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gabra1 mouse models; 2 with human GABRA1 associations

Human Disease Mouse Models
       Epilepsy, Idiopathic Generalized, Susceptibility to, 13; EIG13   OMIM: 611136 View 3 models
       Epileptic Encephalopathy, Early Infantile, 19; EIEE19   OMIM: 615744
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
    59 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.
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    20
  • Genomic Mutations
    2 involving Gabra1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005445 VEGA Gene Model | MGI Sequence Detail 51992 C57BL/6J ±  kb
transcript OTTMUST00000012130 VEGA | MGI Sequence Detail 4045 Not Applicable  
polypeptide OTTMUSP00000049803 VEGA | MGI Sequence Detail 455 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    352 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000007766 gamma-aminobutyric acid receptor subunit alpha-1
  • 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
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Molecular
Reagents
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  • All nucleic 16
    cDNA 14
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9922, MGD-MRK-9927
References
more
  • Summaries
    All 148
    Developmental Gene Expression 14
    Diseases 3
    Gene Ontology 7
    Phenotypes 59
  • Earliest
    J:23686 Buckle VJ, et al., Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease. Neuron. 1989 Nov;3(5):647-54
  • Latest
    J:229930 Nechiporuk T, et al., The REST remodeling complex protects genomic integrity during embryonic neurogenesis. Elife. 2016;5

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
08/23/2016
MGI 6.05
The Jackson Laboratory