GABRB1 - gamma-aminobutyric acid type A receptor subunit beta1 Gene

Also Known as DEE45; EIEE45

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2560

About GABRB1

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,993,647-47,426,447 (from NCBI)

This gene has 5 transcripts (splice variants), 102 orthologues, 45 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 8.6) and heart (RPKM 0.4).

Summary

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

GABRB1 Products (1)

mRNA	Protein	Name
NM_000812.4	NP_000803.2	gamma-aminobutyric acid receptor subunit beta-1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GABA-A receptor activity	IDA IDA: Inferred from direct assay	16412217	GOA
enables GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	2538761	GOA
enables GABA-gated chloride ion channel activity	IMP IMP: Inferred from mutant phenotype	26950270	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA IDA: Inferred from direct assay	26950270	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	26950270	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	9039914	GOA
involved in gamma-aminobutyric acid signaling pathway	IMP IMP: Inferred from mutant phenotype	26950270	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GABA-A receptor complex	IDA IDA: Inferred from direct assay	9039914	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26950270	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

GABRB1 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
474 a.a.

Protein Preferred Names	Protein Names
gamma-aminobutyric acid receptor subunit beta-1	gamma-aminobutyric acid (GABA) A receptor, beta 1

GABRB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810762	GABRB1 Antibody (YA10005)	WB, ICC/IF	Human, Rat
HY-P82516	GABA A Receptor beta 1 Antibody (YA2261)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 45	DEE45 Epileptic Encephalopathy, Early Infantile, 45 Eiee45 Developmental And Epileptic Encephalopathy, 45 Early Infantile Epileptic Encephalopathy 45
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Trichothiodystrophy 2, Photosensitive	TTD2 Photosensitive Trichothiodystrophy 2
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
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Substance Dependence
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
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]
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

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.	Product Name	Effect	Purity	Rare Diseases
HY-RS05215	GABRB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GABRB1	MGD	MGI:95619
Rattus norvegicus	GABRB1	RGD	RGD:2649
Canis familiaris	GABRB1	VGNC	VGNC:41058
Felis catus	GABRB1	VGNC	VGNC:62423
Macaca mulatta	GABRB1	VGNC	VGNC:106582
Bos taurus	GABRB1	VGNC	VGNC:29196
Others	GABRB1	NCBI