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GABRA1 Gene

protein-coding GIFtS: 68

GC05P161206

gamma-aminobutyric acid (GABA) A receptor, alpha 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ECA4 ^², ⁵
EJM ^², ⁵
OTTHUMP00000160870 ^²

Descriptions
GABA(A) receptor subunit alpha-1 ^³
gamma-aminobutyric acid (GABA) A receptor, alpha 1 ^²
gamma-aminobutyric acid A receptor, alpha 1 ^¹

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

Search outside databases for aliases for GABRA1 gene

Previous GC identifers: GC05P161391 GC05P161782 GC05P161209 GC05P161255

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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]

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

Gene Wiki entry for GABRA1 (Gamma-aminobutyric_acid_A_receptor%2C_alpha_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GABRA1 gene

Entrez Gene cytogenetic band: 5q34-q35 Ensembl cytogenetic band: 5q34 HGNC cytogenetic band: 5q34-q35

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

GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P161206: (about GC identifiers)

Start:	161,206,983 bp from pter
End:	161,258,992 bp from pter
Size:	52,010 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000005.8 NT_023133.12

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

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

protein. Cell membrane; Multi-pass membrane protein

Secondary accessions: Q8N629

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (7 alternative transcripts):

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

ENSEMBL proteins:

ENSP00000377517 ENSP00000023897

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (GABA A Receptor alpha 1)
	Human Recombinant Proteins from Abnova (GABRA1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	2465923
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

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Antibodies for GABRA1:

	Invitrogen Antibodies for GABRA1
	Millipore Mono- and Polyclonal Antibodies for the study of GABRA1
	Sigma-Aldrich Antibodies for GABRA1
	R&D Systems Antibodies for GABRA1 (GABA A R alpha 1)
	Antibodies from Abcam (GABA A Receptor alpha 1), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for GABRA1

Assays for GABRA1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 ionic channel (TC 1.A.9) family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRA1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABRA1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_000806

Applied Biosystems Silencer® siRNAs for GABRA1

Sigma-Aldrich siRNA and siRNA Panels for GABRA1

Sigma-Aldrich shRNA for GABRA1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GABRA1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_000806
Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_000806
untagged cDNA clones in CMV expression vector (see all 7): NM_000806

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001127644

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

11 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Gabra1):

behavior/neurological	growth/size	hearing/vestibular/ear	homeostasis/metabolism	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system	no phenotypic analysis	normal
reproductive system

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	TAS	2465923
GO:0005216	ion channel activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--
GO:0005515	protein binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for GABRA1 (Your Favorite Gene powered by Ingenuity)

GABA Receptor Signaling

GeneDecks GABRA1 for the pathways selected above

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5/27 Interacting proteins for GABRA1 (ENSP00000023897³) via UniProtKB, MINT, and/or STRING (see all 27 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CLCN2	ENSP00000265593³	STRING (score=.883)
CREB1	ENSP00000236996³	STRING (score=.872)
GABRD	ENSP00000367848³	STRING (score=.825)
GABRP	ENSP00000265294³	STRING (score=.825)
GABRB2	ENSP00000274547³	STRING (score=.824)

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3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	IEA	--
GO:0006821	chloride transport	IEA	--
GO:0007214	gamma-aminobutyric acid signaling pathway	TAS	2465923

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Enzo Life Sciences drugs & compounds for GABRA1

Sigma-Aldrich Small Molecules for GABRA1:

Mixed Agonist/Antagonist Antagonist Allosteric Modulator Agonist Inhibitor Ligand

Compounds for GABRA1 available from Tocris Bioscience

Compound	Action	CAS number
CL 218872	Benzodiazepine agonist	[66548-69-4]
Valerenic acid	Positive allosteric modulator of GABAA receptors	[3569-10-6]
(+)-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]

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABRA1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABRA1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_000806

Sigma-Aldrich siRNA and siRNA Panels for GABRA1

Sigma-Aldrich shRNA for GABRA1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000806 NM_001127643 NM_001127644 NM_001127645 NM_001127646 NM_001127647 NM_001127648

REFSEQ mRNAs for GABRA1 gene (7 alternative transcripts):

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

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000806 NM_001127643 NM_001127644 NM_001127645 NM_001127646 NM_001127647 NM_001127648

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_000806
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_000806
                                 untagged cDNA clones in CMV expression vector (see all 7): NM_000806

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.120805171 DT.95178057

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

BM687883 BC030696 F03552 NM_000806 F07280 Z40687 Z40095 BM927274

Z44933 AA325450 CB155732 CK002884 AV722228 Z44058 BP359883 R52300

BX508303 BV203238 BP348789 BP350040 BP361506 BP346633 AL119816 AW005315

highest scoring ESTs for GABRA1:

AW005315 X14766 AA325450 AV722228 AV722519 AV724279 AV728194 AW148652 BC030696 BE698986

Unigene Cluster for GABRA1:

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

Hs.175934 [show with all ESTs]

Unigene Representative Sequence: NM_001127644

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000393943 ENST00000023897

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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GABRA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GABRA1

¹ / ² / ³

6 probe-sets matching GABRA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
89915_at²^{, 3}	U95-D	1	1.00	1.00	0.95	1.17	AW005315	1.00	1.00	1.00	1
36323_at²^{, 3}	U95-A	1	1.00	1.00	0.92	0.87	X14766	1.00	1.00	1.00	1
206678_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000806	0.60	1.00	0.82	1
244118_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AV722228	0.80	1.00	0.91	1
206678_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
244118_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks GABRA1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: TGTTGCTTTA

SOURCE GeneReport for Unigene cluster: Hs.175934
Expression variation in blood from EXPOLDB for GABRA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for GABRA1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GABRA1¹	--	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94.15(n) 98.9(a)	489143 XM_546261.2 XP_546261.2
chimpanzee (Pan troglodytes)	GABRA1¹	--	gamma-aminobutyric acid (GABA) A receptor, alpha 1	99.42(n) 100(a)	462241 XM_518079.2 XP_518079.1
cow (Bos taurus)	GABRA1¹	--	gamma-aminobutyric acid (GABA) A receptor, alpha 1	93.79(n) 99.12(a)	780973 XM_001249340.1 XP_001249341.1
rat (Rattus norvegicus)	Gabra1¹	--	gamma-aminobutyric acid (GABA) A receptor, alpha 1	90.7(n) 98.68(a)	29705 NM_183326.2 NP_899155.1
mouse (Mus musculus)	Gabra1^{1, 5}	11 (19.00 cM)⁵	gamma-aminobutyric acid (GABA) A receptor, subunit more⁵ gamma-aminobutyric acid (GABA-A) receptor, subunit more¹	91.58(n)¹ 98.68(a)¹	14394¹ NM_010250.3¹ NP_034380.1¹ AK034095⁵ AK039496⁵ (see all 15)

About this table Species with no ortholog for GABRA1

ENSEMBL Gene Tree for GABRA1

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

GABRA2² GABRA5²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/246 NCBI SNPs in GABRA1 are shown (see all 246 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 96)

AB	SNP ID	Valid	Chr 5 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2290732^1,2	A,C,F,H,O	161257476(+)	`TACACG/AAACTA`	7	--	ut3¹		8		EA NA EU WA	2022
	rs998754^1,2	A,C,F,H	161258512(-)	`TTACAT/GAGTAT`	7	--	ut3¹		8		EA NA EU WA	2016
	rs2290733^1,2	C,F,H	161258935(+)	`TTTCAT/CCCACC`	7	--	ut3¹		5		EA EU WA	1868
--	rs12658835^1,2	C	161207880(+)	`CGAGGA/GCGCCC`	3	--	ut5¹ ese³		0	--	--	--	--
	rs10071744^1,2	H	161205872(+)	`AGACAA/TAACTG`	1	--	ng5¹		4		EU EA WA	418
	rs1129648^1,2	H	161232809(+)	`AAATCT/CGGACT`	7	R/W	mis¹		4		EU EA WA	406
--	rs11576001^1,2	C	161206802(+)	`SGGGGA/GAAAGT`	1	--	ut5¹		0	--	--	--	--
	rs2168775^1,2	H	161257191(+)	`TGCAGC/ATTGGA`	7	--	ut3¹		4		EU EA WA	420
	rs35166395^1,2	C,F,H	161213823(+)	`GATGGC/TTATGA`	7	G/G	syn¹		4		EU EA WA	420
	rs1037715^1,2	A,C,F,H,O	161248347(+)	`CACTTC/TCTTCT`	1	--	int¹ trp³		18		EA NA EU WA	1450

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HapMap Linkage Disequilibrium images for GABRA1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 137160 disorders: 606904 611136

UniProtKB/Swiss-Prot: GBRA1_HUMAN, P14867

Defects in GABRA1 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is 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

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

ECA4 is a subtype of idiopathic generalized epilepsy (IGE) 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 develop. Absence

seizures may either remit or persist into adulthood

5 Novoseek disease relationships for GABRA1 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
myoclonic epilepsy juvenile	87.68	4	14631097 (1), 16839746 (1), 17008177 (1), 8739126 (1)
childhood absence epilepsy	81.73	4	17008177 (1), 8739126 (1)
epilepsy	52.18	2	17008177 (1), 18180303 (1)
mood disorders	41.27	5	14706423 (3), 9861645 (1), 12946574 (1)
bipolar disorder	30.66	2	14706423 (2)

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Human Gene Mutation Database: GABRA1
Genetic Association Database: GABRA1
Human Genome Epidemiology Navigator: GABRA1 (23 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/78 PubMed articles for GABRA1 gene (see all 78 ):

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613)^{1, 3, 6} 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, 3, 6} Horiuchi Y....Arinami T. (2004)
Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. (PubMed id 14631097)^{1, 3, 6} Kapoor A....Anand A. (2003)
Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. (PubMed id 15955415)^{3, 6} Ito M....Ohtsuka Y. (2005)
Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. (PubMed id 15542698)^{3, 6} 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)^{3, 4} 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)^{3, 6} Winterer G....Sander T. (2003)
Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. (PubMed id 12232773)^{3, 6} Chang Y.T....Cheng A.T. (2002)
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. (PubMed id 11992121)^{3, 4} Cossette P....Rouleau G.A. (2002)
Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia. (PubMed id 12210273)^{3, 6} Imai K....Asada T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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, and/or H-InvDB)
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Entrez Gene: 2554	HGNC: 4075	AceView: GABRA1	Ensembl:ENSG00000022355	euGenes: HUgn2554
ECgene: GABRA1	H-InvDB: GABRA1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
Protein Spotlight	http://www.expasy.org/spotlight/back_issues/sptlt056.shtml

Licensable Technologies for GABRA1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for GABRA1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for GABRA1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for GABRA1		Antibodies for GABRA1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for GABRA1		Small molecules for GABRA1
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (GABRA1)
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	Custom Service for Rabbit Pab from Full-length Protein

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GABRA1 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for GABRA1

Summaries
for GABRA1

Genomic Location
for GABRA1

Proteins
for GABRA1

Protein Domains/
Families
for GABRA1

Gene Function
for GABRA1

Pathways & Interactions
for GABRA1

Drugs & Compounds
for GABRA1

Transcripts
for GABRA1

Expression
for GABRA1

Orthologs
for GABRA1

Paralogs
for GABRA1

SNPs/Variants
for GABRA1

Disorders & Mutations
for GABRA1

Medical News
for GABRA1

Publications
for GABRA1

Search for GABRA1

Genome Databases showing GABRA1

Other Databases showing GABRA1

Specialized Databases showing GABRA1

Licensable Technologies
for GABRA1

Services
for GABRA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GABRA1 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor GABRA1

Summariesfor GABRA1

Genomic Locationfor GABRA1

Proteinsfor GABRA1

Protein Domains/Familiesfor GABRA1

Gene Functionfor GABRA1

Pathways & Interactionsfor GABRA1

Drugs & Compoundsfor GABRA1

Transcriptsfor GABRA1

Expression for GABRA1

Orthologsfor GABRA1

Paralogsfor GABRA1

SNPs/Variantsfor GABRA1

Disorders & Mutationsfor GABRA1

Medical Newsfor GABRA1

Publicationsfor GABRA1

Search for GABRA1

Genome Databases showing GABRA1

Other Databases showing GABRA1

Specialized Databases showing GABRA1

Licensable Technologiesfor GABRA1

Servicesfor GABRA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for GABRA1

Summaries
for GABRA1

Genomic Location
for GABRA1

Proteins
for GABRA1

Protein Domains/
Families
for GABRA1

Gene Function
for GABRA1

Pathways & Interactions
for GABRA1

Drugs & Compounds
for GABRA1

Transcripts
for GABRA1

Expression
for GABRA1

Orthologs
for GABRA1

Paralogs
for GABRA1

SNPs/Variants
for GABRA1

Disorders & Mutations
for GABRA1

Medical News
for GABRA1

Publications
for GABRA1

Licensable Technologies
for GABRA1

Services
for GABRA1