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

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

GABBR1 Protein Structure

Sushi

ANF_receptor

7tm_3

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

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

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