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Gabrb1 Gene Detail
Summary
  • Symbol
    Gabrb1
  • Name
    gamma-aminobutyric acid type A receptor subunit beta 1
  • Synonyms
    B230208N19Rik, Gabrb-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95619
    NCBI Gene: 14400
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:71815456-72306380 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 38.18 cM
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    11865 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95619
 protein coding gene Chr5:71815264-72306915 (+)
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 subunit beta1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRB1, gamma-aminobutyric acid type A receptor subunit beta1
  • Synonyms
    DEE45, EIEE45
  • Links
    NCBI Gene ID: 2560
    neXtProt AC: NX_P18505
    UniProt: P18505

  • Chr Location
    4p12; chr4:46993647-47426447 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human GABRB1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 3 alleles in 2 genetic backgrounds
    28 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
less
  • All GO Annotations
    61
  • GO References
    8
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
membraneless 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
    959
  • Tissues
    167
  • cDNA Data
    15
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
      (term hierarchy)
    • InterPro Domains
      IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit
      IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
      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
    • GlyGen
      P50571 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    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 88
      Developmental Gene Expression 12
      Gene Ontology 8
      Phenotypes 28
    • 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:358786 Blednov YA, et al., The PDE4 inhibitor apremilast modulates ethanol responses in Gabrb1-S409A knock-in mice via PKA-dependent and independent mechanisms. Neuropharmacology. 2024 Oct 1;257:110035
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory