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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GABRA1 Gene

protein-coding GIFtS: 67
GCID: GC05P161206

gamma-aminobutyric acid (GABA) A receptor, alpha 1

Explore 24 diseases affiliated with
GABRA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Alpha 1¹ ²		EJM²
EJM5¹ ² ⁵		GABA(A) Receptor, Alpha 1²
GABA(A) Receptor Subunit Alpha-1² ³		Gamma-Aminobutyric Acid Receptor Subunit Alpha-1²
ECA4² ⁵

External Ids:	HGNC: 4075¹	Entrez Gene: 2554²	Ensembl: ENSG00000022355⁷	OMIM: 137160⁵	UniProtKB: P14867³

Export aliases for GABRA1 gene to outside databases

Previous GC identifers: GC05P161391 GC05P161782 GC05P161209 GC05P161255 GC05P156366

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GABRA1:

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)

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867

Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding

to the GABA/benzodiazepine receptor and opening an integral chloride channel

summary for GABRA1:

GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating

the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting

of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).

The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with

a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites

for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRA1 (Gamma-aminobutyric acid A receptor, alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GABRA1 gene promoter:
TBP E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GABRA1 promoter sequence

Search SABiosciences Chromatin IP Primers for GABRA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q34 Ensembl cytogenetic band: 5q34 HGNC cytogenetic band: 5q34

GABRA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRA1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P161206: view genomic region (about GC identifiers)

Start:	161,274,197 bp from pter	End:	161,326,975 bp from pter
Size:	52,779 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-1 precursor

Size: 456 amino acids; 51802 Da

Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha,

beta, gamma, delta, and rho. Interacts with TRAK1 (By similarity)

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein

Secondary accessions: D3DQK6 Q8N629

Explore the universe of human proteins at neXtProt for GABRA1: NX_P14867

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P14867

GABRA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_000797.2 NP_001121115.1 NP_001121116.1 NP_001121117.1 NP_001121120.1 NP_001121118.1 NP_001121119.1

ENSEMBL proteins:

ENSP00000023897 ENSP00000393097 ENSP00000377517 ENSP00000415441 ENSP00000430895

ENSP00000430507 ENSP00000430435 ENSP00000408041 ENSP00000414232

Reactome Protein details: P14867
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	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	ISS	--
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--
GO:0034707	chloride channel complex	IEA	--

GABRA1 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GABRA1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR001390 GABAAa_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR006201 Neur_channel

IPR005431 GABBAa1_rcpt

Graphical View of Domain Structure for InterPro Entry P14867

ProtoNet protein and cluster: P14867

4 Blocks protein families:

IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature

IPB005431 Gamma-aminobutyric-acid A receptor alpha 1 subunit signature

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5)

subfamily. GABRA1 sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867

Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding

to the GABA/benzodiazepine receptor and opening an integral chloride channel

Genatlas biochemistry entry for GABRA1:

gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 1,subunit,component of a pentameric receptor mediating

inhibitory neurotransmission

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		hsa-miR-3607-3p hsa-miR-4272 hsa-miR-938 hsa-miR-3658 hsa-miR-208b hsa-miR-208a hsa-miR-155 hsa-miR-330-3p

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRA1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0005515	protein binding	--	--
GO:0008144	drug binding	ISS	--

GABRA1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for GABRA1: Gabra1^tm1.1Twr Gabra1^tm1Twr Gabra1^tm2.1Geh Gabra1^tm1.1Geh
     9 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Gabra1):

behavior/neurological	growth/size	hearing/vestibular/ear	homeostasis/metabolism	mortality/aging
nervous system	no phenotypic analysis	normal	reproductive system

GABRA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

GABA A receptor activation

	GABA A receptor activation	1.00			Synaptic Neurotransmission: GABAergic Inhibition	0.45
	Ligand-gated ion channel transport	0.48			GABA signaling in brain	0.26

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Ion channel transport

Ion channel transport

1.00

Benzodiazepine Pathway, Pharmacodynamics

Benzodiazepine Pathway, Pharmacodynamics

1.00

Akt Signaling

Akt Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GABRA1

GABA signaling in brain

1 R&D Systems Pathway for GABRA1

Synaptic Neurotransmission: GABAergic Inhibition

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRA1

	Sperm Motility
	Akt Signaling

1 Tocris Bioscience Pathway for GABRA1

Akt Pathway

1 BioSystems Pathway for GABRA1

SIDS Susceptibility Pathways

5/8 Reactome Pathways for GABRA1 (see all 8)

	GABA A receptor activation
	Ligand-gated ion channel transport
	Transmission across Chemical Synapses
	Ion channel transport
	Neuronal System

1 PharmGKB Pathway for GABRA1

Benzodiazepine Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for GABRA1):

Neuroactive ligand-receptor interaction

GABRA1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GABRA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/17 Interacting proteins for GABRA1 (P14867³ ENSP00000023897⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP3CA	Q08209³, ENSP00000378323⁴	I2D: score=2 STRING: ENSP00000378323
PRKCD	Q05655³, ENSP00000331602⁴	I2D: score=2 STRING: ENSP00000331602
PRKCG	P05129³, ENSP00000263431⁴	I2D: score=2 STRING: ENSP00000263431
DRD4	P21917³, ENSP00000176183⁴	I2D: score=1 STRING: ENSP00000176183
PIK3R1	P27986³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	2465923
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	--
GO:0007268	synaptic transmission	TAS	--
GO:0034220	ion transmembrane transport	TAS	--
GO:0051932	synaptic transmission, GABAergic	ISS	--

GABRA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GABRA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GABRA1 available from Tocris Bioscience About this table

Compound	Action	CAS #
PHP 501 fluoroacetate	Potent GABAA antagonist	[1236105-75-1]
CL 218872	Benzodiazepine agonist	[66548-69-4]
(+)-Bicuculline	Potent GABAA antagonist	[485-49-4]
Muscimol	Potent GABAA agonist	[2763-96-4]
SR 95531 hydrobromide	Selective, competitive GABAA receptor antagonist	[104104-50-9]

5 HMDB Compounds for GABRA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Ethanol	1-Hydroxyethane (see all 57)	64-17-5	--
Gamma-Aminobutyric acid	3-Carboxypropylamine (see all 27)	56-12-2	--
Topiramate	Epitomax (see all 5)	97240-79-4	--
Zolpidem	Ambien (see all 7)	82626-48-0	--

10/67 DrugBank Compounds for GABRA1 (see all 67) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Flumazenil	Flumazenilo [Spanish] (see all 2)	78755-81-4	target	antagonist	17139284 11864636 17974564 17306436 11752352 17016423 19907641 18788841 17368613 19411525 18175099
Pentobarbital	Pentabarbital (see all 7)	76-74-4	target	potentiator	16866778 14579514 15240758 10209232 11264449 17139284 11752352 17016423 10487207 11744750 11605100
Secobarbital	(+/-)-Secobarbital (see all 6)	76-73-3	target	potentiator	2850060 3006661 14579514 10209232 11264449 17139284 11752352 17016423 10487207 2906155
Methylphenobarbital	Mephobarbital (see all 13)	115-38-8	target	potentiator	20692323 14579514 10209232 11264449 17139284 21194017 11752352 17016423 10487207
Butalbital	Allylbarbital (see all 2)	77-26-9	target	potentiator	11279945 14579514 10209232 11264449 17139284 11752352 17016423 10487207
Hexobarbital	5-(1-cyclohexen-1-yl)-1,5-dimethylbarbituric acid (see all 4)	56-29-1	target	potentiator	14579514 10209232 11264449 17139284 11752352 17016423 10487207 10360871
Phenobarbital	Fenobarbital (see all 7)	50-06-6	target	potentiator	14579514 10209232 11264449 17139284 11752352 17016423 10487207 2871724
Thiamylal	--	77-27-0	target	agonist	11900777 14579514 10209232 18619475 11264449 17139284 10487207 17016423
Butabarbital	Butabarbital Sodium (see all 8)	125-40-6	target	potentiator	14579514 10209232 11264449 17139284 11752352 17016423 10487207
Butethal	5-Butyl-5-ethyl-2,4,6(1H,3H,5H)-pyrimidinetrione (see all 10)	77-28-1	target	potentiator	14579514 10209232 11264449 17139284 11752352 17016423 10487207

1 Novoseek chemical compound relationship for GABRA1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gaba	63.4	11	14706423 (2), 16569738 (1), 19294962 (1), 9861645 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about GABRA1 / GBRA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GABRA1 gene (7 alternative transcripts):

NM_000806.5 NM_001127643.1 NM_001127644.1 NM_001127645.1 NM_001127648.1 NM_001127646.1 NM_001127647.1

Unigene Cluster for GABRA1:

Gamma-aminobutyric acid (GABA) A receptor, alpha 1

Hs.175934 [show with all ESTs]

Unigene Representative Sequence: NM_001127644

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000023897 ENST00000428797(uc010jiw.3 uc010jix.3 uc010jiy.3)

ENST00000393943 ENST00000437025(uc003lyx.4) ENST00000521339 ENST00000522651

ENST00000519621 ENST00000519542 ENST00000420560(uc010jiz.3 uc010jjb.3)

ENST00000444819(uc010jja.3)

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Additional cDNA sequence:

AK223447.1 AK289792.1 AK295160.1 BC030696.1 X13584.1 X14766.1

8 DOTS entries:

DT.110046 DT.305404 DT.120805196 DT.40190690 DT.40288455 DT.95080053 DT.95178057 DT.120805171

24/43 AceView cDNA sequences (see all 43):

Z40687 F03552 Z40095 BM927274 NM_000806 F07280 BC030696 Z44933

BM687883 CK002884 BP350040 AV708951 BP346633 AL119816 CB155732 X14766

BV203238 BP348789 AW005315 AV722228 R52300 BP361506 BP359883 BX508303

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GABRA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTGCTTTA

About this image

GABRA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Type1 Off Cone Bipolar Cells

Bipolar, Retina

Heart

Atrioventricular Canal

Heart

Kidney

Interstitial Stroma

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GABRA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GABRA1

SOURCE GeneReport for Unigene cluster: Hs.175934

SABiosciences Expression via Pathway-Focused PCR Arrays including GABRA1:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for GABRA1 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GABRA1¹	gamma-aminobutyric acid (GABA) A receptor, alpha 1	84.18(n) 96.04(a)		374214 NM_204318.2 NP_989649.1
lizard (Anolis carolinensis)	Reptilia	GABRA1⁶	--	92(a)	1 ↔ 1	1(106837000-106873948)
zebrafish (Danio rerio)	Actinopterygii	gabra1¹	gamma-aminobutyric acid (GABA) A receptor, alpha 1	77.65(n) 88.33(a)		768183 NM_001077326.1 NP_001070794.1
fruit fly (Drosophila melanogaster)	Insecta	Grd³	glycine-gated ion channel	48(a) (best of 2)		75A4 --
worm (Caenorhabditis elegans)	Secernentea	lgc-37⁶ lgc-48⁶ (see all 19)	Ligand-Gated ion Channel family member (lgc-48) (see all 19)	28(a) 26(a) (see all 19)	1 ↔ many possible ortholog (see all 19)	III(12785053-12793027) V(13340227-13343027)

ENSEMBL Gene Tree for GABRA1 (if available)
TreeFam Gene Tree for GABRA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GABRA1 gene

GABRE² GABRA2² GABRG1² GABRA3² GABRG2² GABRA4² GABRA6² GABRA5²

GABRG3²

18/22 SIMAP similar genes for GABRA1 using alignment to 4 protein entries: GBRA1_HUMAN (see all proteins) (see all similar genes):

GABRA2 GABRA3 GABRA5 GABRA4 GABRA6 GABRE

GABRG3 GABRG1 GABRG2 GLRA4 GABRP GLRA1

GABRB1 GLRA2 GLRA3 GABRR2 DKFZp781L0846 GABRB3

GABRA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78983363^1,2	C,	--	156364770(+)	`ATCAAA/GTTGAA`	1	--	us2k¹		3		NA WA	240
rs75189689^1,2	F,	--	156365103(+)	`TATCAT/ATATTT`	2	--	us2k¹		1		WA	118
rs77553257^1,2	F,	--	156365384(+)	`CATAAC/AATTTT`	3	--	us2k¹		1		WA	118
rs10071744^1,2	H	--	156365629(+)	`AGACAA/TAACTG`	3	--	us2k¹		4		NS EA	418
rs78470875^1,2	F,	--	156366018(+)	`CTTCAG/ATTTTA`	4	--	us2k¹		1		WA	118
rs41303354^1,2		--	156366974(+)	`GACTCC/TGCAAG`	5	--	int¹ us2k¹		0	--	--	--	--
rs35070708^1,2	C,F,H,	--	156367141(+)	`GTTGCA/CCTAAA`	5	--	int¹ us2k¹		5		EA NS NA	512
rs12658835^1,2	C,H,	--	156367637(+)	`CGAGGA/GCGCCC`	5	--	ut5¹ us2k¹ ese³		3		NA EA	242
rs75583203^1,2	C,	--	156367726(+)	`TTTCCC/ACGGTC`	5	--	ut5¹ us2k¹		2		WA	120
rs10079622^1,2	C,	--	156368614(+)	`CAATCT/ATTTTA`	7	--	int¹ us2k¹		3		WA CSA	121

HapMap Linkage Disequilibrium report for GABRA1 (161274197 - 161326975 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GABRA1
2 CNVs: 47996 99339
Human Gene Mutation Database (HGMD): GABRA1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GABRA1 for disorders           About GeneDecksing

OMIM gene information: 137160
OMIM disorders: 611136
UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867

Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. A subtype of

idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day)

and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures

may develop. Absence seizures may either remit or persist into adulthood

Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]. A subtype of

idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in

childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue

20/24 diseases for GABRA1 (see all 24): About MalaCards

childhood absence epilepsy juvenile myoclonic epilepsy absence epilepsy epilepsy, childhood absence, susceptibility to, 4

idiopathic generalized epilepsy generalized epilepsy precocious puberty fragile x syndrome

heroin dependence mood disorder essential tremor anorexia nervosa

systemic lupus erythematosus lupus erythematosus bipolar disorder schizoaffective disorder

tremor alcohol dependence angelman syndrome alcoholism

3 diseases from the University of Copenhagen DISEASES database for GABRA1:

Juvenile absence epilepsy Idiopathic generalized epilepsy Early myoclonic encephalopathy

5 Novoseek disease relationships for GABRA1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myoclonic epilepsy juvenile	88.7	5	14631097 (1), 20308251 (1), 16839746 (1), 17008177 (1) (see all 5)
childhood absence epilepsy	84.9	5	20308251 (1), 17008177 (1), 8739126 (1)
epilepsy	54.2	3	20308251 (1), 17008177 (1), 18180303 (1)
mood disorders	40.1	5	14706423 (3), 9861645 (1), 12946574 (1)
bipolar disorder	29	2	14706423 (2)

Genetic Association Database (GAD): GABRA1
Human Genome Epidemiology (HuGE) Navigator: GABRA1 (32 documents)

Export disorders for GABRA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GABRA1 gene, integrated from 9 sources (see all 202):
(articles sorted by number of sources associating them with GABRA1)

Utopia: connect your pdf to the dynamic
world of online information

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613)^{1, 4, 9} Petryshen T.L....Sklar P. (2005)
Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. (PubMed id 14706423)^{1, 4, 9} Horiuchi Y....Arinami T. (2004)
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. (PubMed id 14631097)^{1, 4, 9} Kapoor A....Anand A. (2003)
Altered GABA(A) receptor subunit expression and pharm acology in human Angelman syndrome cortex. (PubMed id 20692323)^{1, 7} Roden W.H....Jansen L.A. (2010)
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. (PubMed id 15955415)^{1, 4} Ito M....Ohtsuka Y. (2005)
Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. (PubMed id 15542698)^{1, 4} Foley P.F....Dodd P.R. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients. (PubMed id 12645817)^{1, 4} Winterer G....Sander T. (2003)
Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. (PubMed id 12232773)^{1, 4} Chang Y.T....Cheng A.T. (2002)
Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia. (PubMed id 12210273)^{1, 4} Imai K....Asada T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2554	HGNC: 4075	AceView: GABRA1	Ensembl:ENSG00000022355	euGenes: HUgn2554
ECgene: GABRA1	Kegg: 2554	H-InvDB: GABRA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GABRA1	Pharmacogenomics, SNPs, Pathways
Protein Spotlight	http://web.expasy.org/spotlight/back_issues/sptlt056.shtml

Intellectual Property for GABRA1 gene
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Patent Information for GABRA1 gene:
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GeneCards and IP:
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GABRA1 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 1

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gamma-aminobutyric acid (GABA) A receptor, alpha 1

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