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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:71658113-72149037 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 38.18 cM
  • Mapping Data
    20 experiments
  • Sequence Tags
Strain
Comparison
more
  • SNPs within 2kb
    1736 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95619
protein coding gene Chr5:71658054-72149572 (.)
129S1/SvImJ MGP_129S1SvImJ_G0029609
protein coding gene Chr5:71543522-72052819 (+)
A/J MGP_AJ_G0029577
protein coding gene Chr5:68865520-69361936 (+)
AKR/J MGP_AKRJ_G0029525
protein coding gene Chr5:71068595-71568804 (+)
BALB/cJ MGP_BALBcJ_G0029586
protein coding gene Chr5:69549487-70028663 (+)
C3H/HeJ MGP_C3HHeJ_G0029309
protein coding gene Chr5:71443695-71941138 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030040
protein coding gene Chr5:74537334-75043812 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027280
protein coding gene Chr5:64625193-65089285 (+)
CAST/EiJ MGP_CASTEiJ_G0028717
protein coding gene Chr5:70561001-71064970 (+)
CBA/J MGP_CBAJ_G0029278
protein coding gene Chr5:76913232-77434858 (+)
DBA/2J MGP_DBA2J_G0029424
protein coding gene Chr5:68938347-69420259 (+)
FVB/NJ MGP_FVBNJ_G0029384
protein coding gene Chr5:68114414-68600687 (+)
LP/J MGP_LPJ_G0029509
protein coding gene Chr5:72021776-72537837 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029412
protein coding gene Chr5:80283044-80833847 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030073
protein coding gene Chr5:70667050-71167152 (+)
PWK/PhJ MGP_PWKPhJ_G0028441
protein coding gene Chr5:67900494-68381836 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028275
protein coding gene Chr5:70028289-70533992 (+)
WSB/EiJ MGP_WSBEiJ_G0028797
protein coding gene Chr5:70909904-71408359 (+)



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: HGNC, HomoloGene
  • 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
    24 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 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
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
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029212 Ensembl Gene Model | MGI Sequence Detail 490925 C57BL/6J ±  kb
    transcript ENSMUST00000031122 Ensembl | MGI Sequence Detail 13737 Not Applicable  
    polypeptide ENSMUSP00000031122 Ensembl | MGI Sequence Detail 474 Not Applicable  
    For the selected sequence
    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 76
      Developmental Gene Expression 10
      Gene Ontology 6
      Phenotypes 24
    • 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
    11/27/2018
    MGI 6.13
    The Jackson Laboratory