GABRA1 - gamma-aminobutyric acid type A receptor subunit alpha1 Gene

Also Known as EJM; ECA4; EJM5; DEE19; EIEE19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2554

About GABRA1

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:161,847,191-161,899,971 (from NCBI)

This gene has 20 transcripts (splice variants), 201 orthologues, 45 paralogues and is associated with 7 phenotypes. Restricted expression toward brain (RPKM 37.3).

Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

GABRA1 Products (5)

mRNA	Protein	Name
NM_000806.5	NP_000797.2	gamma-aminobutyric acid receptor subunit alpha-1 precursor
NM_001127643.2	NP_001121115.1	gamma-aminobutyric acid receptor subunit alpha-1 precursor
NM_001127644.2	NP_001121116.1	gamma-aminobutyric acid receptor subunit alpha-1 precursor
NM_001127645.2	NP_001121117.1	gamma-aminobutyric acid receptor subunit alpha-1 precursor
NM_001127648.2	NP_001121120.1	gamma-aminobutyric acid receptor subunit alpha-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	23909897	GOA
contributes to GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	23909897	GOA
enables GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	2538761	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	IDA IDA: Inferred from direct assay	29950725	GOA
involved in inhibitory synapse assembly	IDA IDA: Inferred from direct assay	23909897	GOA
involved in synaptic transmission, GABAergic	IDA IDA: Inferred from direct assay	23909897	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GABA-A receptor complex	IDA IDA: Inferred from direct assay	9039914	GOA
part of GABA-A receptor complex	IPI IPI: Inferred from physical interaction	29950725	GOA
is active in dendritic spine	IDA IDA: Inferred from direct assay	25025157	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

GABRA1 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
456 a.a.

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

GABRA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810694	GABA A Receptor alpha 1 Antibody (YA9945)	WB	Mouse, Rat
HY-P811021	GABRA1 Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P81570	GABA A Receptor alpha 1 Antibody (YA1315)	WB, IHC-P	Mouse, Rat

Related Diseases

Diseases	Alias
Epilepsy, Idiopathic Generalized 13	Epilepsy, Childhood Absence 4 EIG13 Epilepsy, Idiopathic Generalized, Susceptibility To, 13 Epilepsy, Childhood Absence, Susceptibility To, 4 Idiopathic Generalized Epilepsy 13 Epilepsy, Juvenile Myoclonic, Susceptibility To, 5 Epilepsy, Juvenile Myoclonic 5 ECA4 Juvenile Myoclonic Epilepsy 5 EJM5 Susceptibility To Juvenile Myoclonic Epilepsy 5 Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 13
Developmental And Epileptic Encephalopathy 19	DEE19 Epileptic Encephalopathy, Early Infantile, 19 Eiee19 Developmental And Epileptic Encephalopathy, 19 Early Infantile Epileptic Encephalopathy 19 Encephalopathy, Epileptic, Early Infantile, Type 19
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
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]
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
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
Adolescence-Adult Electroclinical Syndrome
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
Childhood Electroclinical Syndrome
Myoclonic Epilepsy, Juvenile 4	EJM4 Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 Myoclonic Epilepsy, Juvenile, 4 Juvenile Myoclonic Epilepsy 4
Developmental And Epileptic Encephalopathy 74	DEE74 Epileptic Encephalopathy, Early Infantile, 74 Eiee74 Developmental And Epileptic Encephalopathy, 74 Early Infantile Epileptic Encephalopathy 74 Encephalopathy, Epileptic, Early Infantile, Type 74
Juvenile Absence Epilepsy	Epilepsy Juvenile Absence Jae Childhood Absence Epilepsy Absence Epilepsy
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
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
Mood Disorder	Mood Disorders Episodic Mood Disorder
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Neonatal Period Electroclinical Syndrome
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Developmental And Epileptic Encephalopathy 43	DEE43 Epileptic Encephalopathy, Early Infantile, 43 Eiee43 Developmental And Epileptic Encephalopathy, 43 Early Infantile Epileptic Encephalopathy 43
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
Early Onset Absence Epilepsy
Developmental And Epileptic Encephalopathy 24	DEE24 Epileptic Encephalopathy, Early Infantile, 24 Eiee24 Developmental And Epileptic Encephalopathy, 24 Early Infantile Epileptic Encephalopathy 24 Encephalopathy, Epileptic, Early Infantile, Type 24
Infancy Electroclinical Syndrome
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
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
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
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter

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-RS05209	GABRA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GABRA1	RGD	RGD:61855
Mus musculus	GABRA1	MGD	MGI:95613
Bos taurus	GABRA1	VGNC	VGNC:29191
Felis catus	GABRA1	VGNC	VGNC:62417
Canis familiaris	GABRA1	VGNC	VGNC:41053
Macaca mulatta	GABRA1	VGNC	VGNC:72846
Others	GABRA1	NCBI