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Gabbr1 Gene Detail
Summary
  • Symbol
    Gabbr1
  • Name
    gamma-aminobutyric acid type B receptor subunit 1
  • Synonyms
    GABAB1, GABAbR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860139
    NCBI Gene: 54393
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr17:37356888-37385197 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 19.16 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1860139
 protein coding gene Chr17:37356858-37385959 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023695
 protein coding gene Chr17:37413706-37442750 (+)
A/J MGP_AJ_G0023653
 protein coding gene Chr17:36229392-36262087 (+)
AKR/J MGP_AKRJ_G0023624
 protein coding gene Chr17:36666627-36697092 (+)
BALB/cJ MGP_BALBcJ_G0023660
 protein coding gene Chr17:36478117-36507163 (+)
C3H/HeJ MGP_C3HHeJ_G0023422
 protein coding gene Chr17:37182895-37213780 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024098
 protein coding gene Chr17:39009625-39040725 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021566
 protein coding gene Chr17:34043403-34072784 (+)
CAST/EiJ MGP_CASTEiJ_G0022907
 protein coding gene Chr17:37312516-37345353 (+)
CBA/J MGP_CBAJ_G0023399
 protein coding gene Chr17:40545834-40576996 (+)
DBA/2J MGP_DBA2J_G0023524
 protein coding gene Chr17:35620020-35649094 (+)
FVB/NJ MGP_FVBNJ_G0023497
 protein coding gene Chr17:35232529-35262113 (+)
LP/J MGP_LPJ_G0023602
 protein coding gene Chr17:37940331-37970555 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023520
 protein coding gene Chr17:39315953-39346471 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024143
 protein coding gene Chr17:37013333-37043209 (+)
PWK/PhJ MGP_PWKPhJ_G0022659
 protein coding gene Chr17:34402119-34432366 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022478
 protein coding gene Chr17:35101999-35131072 (+)
WSB/EiJ MGP_WSBEiJ_G0022974
 protein coding gene Chr17:37330613-37360147 (+)



Homology
more
  • Human Ortholog
    GABBR1, gamma-aminobutyric acid type B receptor subunit 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABBR1, gamma-aminobutyric acid type B receptor subunit 1
  • Synonyms
    GABABR1, GABBR1-3, GB1, GPRC3A, NEDLC
  • Links
    NCBI Gene ID: 2550
    neXtProt AC: NX_Q9UBS5
    UniProt: Q9UBS5

  • Chr Location
    6p22.1; chr6:29555629-29633976 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human GABBR1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
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
    56 phenotypes from 8 alleles in 9 genetic backgrounds
    84 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.
Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    96
  • GO References
    14
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
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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
    1104
  • Tissues
    168
  • cDNA Data
    91
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54393 NCBI Gene Model | MGI Sequence Detail 28310 C57BL/6J ±  kb
    transcript NM_001413997 RefSeq | MGI Sequence Detail 4458 ZRU/MplStud  
    polypeptide Q9WV18 UniProt | EBI | MGI Sequence Detail 960 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000007761 gamma-aminobutyric acid type B receptor subunit 1
      (term hierarchy)
    • InterPro Domains
      IPR050350 Complement & Cell Adhesion Regulators
      IPR000337 GPCR, family 3
      IPR017978 GPCR family 3, C-terminal
      IPR002455 GPCR family 3, GABA-B receptor
      IPR002456 GPCR family 3, gamma-aminobutyric acid receptor, type B1
      IPR028082 Periplasmic binding protein-like I
      IPR001828 Receptor, ligand binding region
      IPR000436 Sushi/SCR/CCP domain
      IPR035976 Sushi/SCR/CCP superfamily
    • GlyGen
      Q9WV18 9 sites, 13 N-linked glycans (7 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 96
      Genomic 1
      cDNA 92
      Primer pair 3

      Microarray probesets 4
    References
    more
    • Summaries
      All 155
      Developmental Gene Expression 18
      Gene Ontology 14
      Phenotypes 84
    • Earliest
      J:326498 Ng GY, et al., Identification of a GABAB receptor subunit, gb2, required for functional GABAB receptor activity. J Biol Chem. 1999 Mar 19;274(12):7607-10
    • Latest
      J:354662 Chen HY, et al., Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the density and connectivity of distinct inhibitory interneuron subtypes. Mol Psychiatry. 2023 Nov;28(11):4679-4692
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory