2. Gene
  3. GABBR1 - gamma-aminobutyric acid type B receptor subunit 1 Gene

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 2550 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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)

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  • 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 Reference
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 Antibodies

Cat. No. Product Name Application Reactivity
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05204 GABBR1 Human Pre-designed siRNA Set A Pre-designed Sets / 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