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Gabrb1 Gene Detail
Summary
  • Symbol
    Gabrb1
  • Name
    gamma-aminobutyric acid (GABA) A receptor, subunit beta 1
  • Synonyms
    B230208N19Rik, Gabrb-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95619
    NCBI Gene: 14400
  • Gene Overview
    MyGene.info: GABRB1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:71658113-72149037 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      490925 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 38.18 cM
  • Mapping Data
    20 experiments
  • Sequence Tags
Homology
more
  • Human Ortholog
    GABRB1, gamma-aminobutyric acid type A receptor beta1 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GABRB1, gamma-aminobutyric acid type A receptor beta1 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EIEE45
  • Links
    NCBI Gene ID: 2560
    neXtProt AC: NX_P18505
    UniProt: P18505

  • Chr Location
    4p12; chr4:47031278-47438409 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 20221
    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: GABRB1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 1 genetic background
    23 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 heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024372 VEGA Gene Model | MGI Sequence Detail 490925 C57BL/6J ±  kb
    transcript OTTMUST00000059713 VEGA | MGI Sequence Detail 13737 Not Applicable  
    polypeptide OTTMUSP00000029066 VEGA | MGI Sequence Detail 474 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1736 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000007772 gamma-aminobutyric acid receptor subunit beta-1
    • InterPro Domains
      IPR002289 Gamma-aminobutyric-acid A receptor, beta 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 34
      Genomic 13
      cDNA 16
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9933, MGD-MRK-9936, MGI:2141149, MGI:2443656
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 9
      Gene Ontology 5
      Phenotypes 23
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:259186 Heng X, et al., Analogous mechanism regulating formation of neocortical basal radial glia and cerebellar Bergmann glia. Elife. 2017 May 10;6

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory