GABBR1 - gamma-aminobutyric acid type B receptor subunit 1 Gene

Also Known as GB1; GPRC3A; GABABR1; GABBR1-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2550

About GABBR1

Cytogenetic location: 6p22.1 Genomic coordinates (GRCh38): 6:29,602,238-29,633,183 (from NCBI)

This gene has 20 transcripts (splice variants), 1 gene allele, 266 orthologues and 2 paralogues. Broad expression in brain (RPKM 72.0), spleen (RPKM 14.7) and 15 other tissues.

Summary

This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]

GABBR1 Products (4)

mRNA Protein Name
NM_001319053.2 NP_001305982.1 gamma-aminobutyric acid type B receptor subunit 1 isoform k
NM_001470.4 NP_001461.1 gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor
NM_021903.3 NP_068703.1 gamma-aminobutyric acid type B receptor subunit 1 isoform b precursor
NM_021904.4 NP_068704.2 gamma-aminobutyric acid type B receptor subunit 1 isoform c precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
contributes to G protein-coupled GABA receptor activity IDA
IDA: Inferred from direct assay
9872316 GOA
enables G protein-coupled GABA receptor activity IDA
IDA: Inferred from direct assay
10328880 GOA
enables G protein-coupled GABA receptor activity IMP
IMP: Inferred from mutant phenotype
36103875 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16724110 GOA
Biological Process GO Annotation Evidence Références Source
involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
987231 GOA
involved in gamma-aminobutyric acid signaling pathway IDA
IDA: Inferred from direct assay
987231 GOA
Cellular Component GO Annotation Evidence Références Source
part of G protein-coupled GABA receptor complex IPI
IPI: Inferred from physical interaction
24305054 GOA
part of G protein-coupled receptor heterodimeric complex IPI
IPI: Inferred from physical interaction
9872316 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
9872316 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GABBR1 Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (55 - 96)

Sushi

Sushi: Sushi repeat (SCR repeat) (123 - 157)

ANF_receptor

ANF_receptor: Receptor family ligand binding region (188 - 536)

7tm_3

7tm_3: 7 transmembrane sweet-taste receptor of 3 GCPR (601 - 858)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 961 a.a.
Protein Preferred Names Protein Names

gamma-aminobutyric acid type B receptor subunit 1

  • GABA-B receptor, R1 subunit

GABBR1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
GABBR1 Q9UBS5 GPR37 Homo sapiens O15354
Ub Reconstruction
28298427
Intra
GABBR1 Q9UBS5 NCK1 Homo sapiens P16333
Peptide Array
17474147
Intra
GABBR1 Q9UBS5 NSF Homo sapiens P46459
Anti Tag CoIP
16724110
Intra
GABBR1 Q9UBS5 NSF Homo sapiens P46459
Pull Down
16724110
Intra
GABBR1 Q9UBS5 NSF Homo sapiens P46459
Imaging
16724110
Intra
GABBR1 Q9UBS5 GABBR2 Homo sapiens O75899
Ub Reconstruction
24658140
Intra
GABBR1 Q9UBS5 GABBR2 Homo sapiens O75899
Anti Tag CoIP
16724110
Intra
GABBR1 Q9UBS5 MAX Homo sapiens P61244
TAP
20195357
Intra
GABBR1 Q9UBS5 MAX Homo sapiens P61244
Display Tech
20195357
Cross: Cross-species interaction Intra: Intraspecies interaction

GABBR1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P810876 GABBR1 Antibody WB, IHC-P Human, Mouse, Rat
HY-P82673 GABA B Receptor 1 Antibody (YA2418) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Temporal Lobe Epilepsy

  • Epilepsy, Temporal Lobe

  • Epilepsy Temporal Lobe
Childhood Absence Epilepsy

  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Tetanus

  • Lockjaw

  • Clostridial Tetanus

  • Infection Due To Clostridium Tetani

  • Lock-Jaw
Alcohol Dependence

  • Alcoholism

  • Alcohol Dependence, Susceptibility To

  • Alcohol Dependence, Protection Against

  • Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

  • Alcoholism, Susceptibility To

  • Alcoholic Intoxication, Chronic

  • Pharyngeal Neoplasms

  • Chronic Alcoholism

  • Dipsomania

  • Alcohol Addiction

  • Ethanol Dependence

  • Chronic Ethanolism

  • Chronic Alcoholic Disease Nos

  • Alcoholic Disease Nos

  • Alcoholic
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
Narcolepsy

  • Paroxysmal Sleep

  • Gelineau Syndrome

  • Narcoleptic Syndrome

  • Narcolepsy-Cataplexy Syndrome

  • Cataplexy And Narcolepsy

  • Narcolepsy, Without Cataplexy

  • Gelineau'S Syndrome

  • Narcolepsy With Or Without Cataplexy

  • Narcolepsy Nos
Obsessive-Compulsive Disorder

  • OCD

  • Obsessive-Compulsive Disorder, Susceptibility To

  • Anancastic Neurosis

  • Obsessive Compulsive Disorder

  • Anankastic Neurosis

  • Obsessive-Compulsive Neurosis

  • Obsessive Compulsive Behavior
Status Epilepticus

  • Grand Mal Status Epilepticus

  • Grand Mal Status

  • Gcse

  • Generalized Convulsive Status Epilepticus

  • Se

  • Epilepsy With Status Epilepticus
Epilepsy, Myoclonic Juvenile

  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]
Fragile X Syndrome

  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • X-Linked Intellectual Disability And Macroorchidism

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome
Anxiety

  • Anxiety Disorder

  • Anxiety Disorders

  • Anxiety State

  • Anxieties

  • Anxiety Neurosis
Epilepsy, Idiopathic Generalized

  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Gastroesophageal Reflux

  • Gastroesophageal Reflux Disease

  • Gerd

  • GER

  • Gastroesophageal Reflux, Pediatric

  • Acid Reflux

  • Gastresophageal Reflux

  • Gastro-Esophageal Reflux

  • Gerd - Gastro-Esophageal Reflux Disease
Spasticity
Mood Disorder

  • Mood Disorders

  • Episodic Mood Disorder
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS05204 GABBR1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GABBR1 VGNC VGNC:29187
Mus musculus GABBR1 MGD MGI:1860139
Macaca mulatta GABBR1 VGNC VGNC:72843
Felis catus GABBR1 VGNC VGNC:97441
Rattus norvegicus GABBR1 RGD RGD:621537
Canis familiaris GABBR1 VGNC VGNC:41048
Others GABBR1 NCBI