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

Homo sapiens

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

Gene ID: 2554 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05209	GABRA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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