About   Help   FAQ
Gabbr1 Gene Detail
Summary
  • Symbol
    Gabbr1
  • Name
    gamma-aminobutyric acid (GABA) B receptor, 1
  • Synonyms
    GABAB1, GABAbR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1860139
    NCBI Gene: 54393
  • Gene Overview
    MyGene.info: GABBR1
Location & Maps
more
  • Sequence Map
    Chr17:37045966-37075067 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      29102 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 19.16 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    GABBR1, gamma-aminobutyric acid type B receptor subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GABBR1, gamma-aminobutyric acid type B receptor subunit 1
    Orthology source: HomoloGene
  • Synonyms
    GABABR1, GABBR1-3, GB1, GPRC3A
  • Links
    NCBI Gene ID: 2550
    neXtProt AC: NX_Q9UBS5

  • Chr Location
    6p21.31; chr6:29602228-29633185 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    56 phenotypes from 8 alleles in 9 genetic backgrounds
    53 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
    37
  • Gene trapped
    27
  • Targeted
    10
  • Genomic Mutations
    1 involving Gabbr1
  • Incidental Mutations
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
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037319 VEGA Gene Model | MGI Sequence Detail 29102 C57BL/6J ±  kb
transcript OTTMUST00000096317 VEGA | MGI Sequence Detail 5248 Not Applicable  
polypeptide OTTMUSP00000053799 VEGA | 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
  • InterPro Domains
    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
Molecular
Reagents
less
  • All nucleic 94
    Genomic 1
    cDNA 91
    Primer pair 2

    Microarray probesets 4
References
more
  • Summaries
    All 95
    Developmental Gene Expression 12
    Gene Ontology 7
    Phenotypes 53
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:223768 Vertkin I, et al., GABAB receptor deficiency causes failure of neuronal homeostasis in hippocampal networks. Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3291-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/15/2016
MGI 6.04
The Jackson Laboratory