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GABBR1 Gene

protein-coding GIFtS: 63

GC06M029664

gamma-aminobutyric acid (GABA) B receptor, 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)
About This Section

Aliases
FLJ92613 ^²
GABA-B-R1 ^³
GABAB(1e) ^²
GABABR1 ^²
GABBR1-3 ^²
GPRC3A ^¹, ², ³
Gb1 ^³
OTTHUMP00000029114 ^²
OTTHUMP00000029115 ^²
OTTHUMP00000029116 ^²
OTTHUMP00000109099 ^²
dJ271M21.1.1 ^²
dJ271M21.1.2 ^²
hGB1a ^¹, ²

Descriptions
GABA-B receptor ^²
GABA-B receptor 1 ^³
GABAB, subunit 1c ^²
gamma-aminobutyric acid (GABA) B receptor 1 ^²
gamma-aminobutyric acid (GABA) B receptor, 1 ^²
gamma-aminobutyric acid B receptor, 1 ^¹
seven transmembrane helix receptor ^²

External Ids
HGNC: 4070¹
Entrez Gene: 2550²
UniProtKB: Q9UBS5³

Search outside databases for aliases for GABBR1 gene

Previous GC identifers: GC06M029627 GC06M029340 GC06M029631

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

EntrezGene summary for GABBR1:

Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central

nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast

synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory

signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors,

GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome

6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple

sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing

of this gene generates 4 transcript variants. [provided by RefSeq]

UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5

Function: Isoform 1E function may be to regulate the availability of functional

GABA-B-R1A/GABA-B-R2 heterodimers by competing for GABA-B-R2 dimerization. This could explain the

observation that certain small molecule ligands exhibit differential affinity for central versus

peripheral sites

Gene Wiki entry for GABBR1

(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)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the GABBR1 gene

Entrez Gene cytogenetic band: 6p21.31 HGNC cytogenetic band: 6p21.3

GABBR1 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 6 GeneLoc Exon Structure

GeneLoc location for GC06M029664: (about GC identifiers)

Start:	29,677,984 bp from pter
End:	29,708,839 bp from pter
Size:	30,856 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14 NT_113891.1 NT_113893.1

(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)
About This Section

UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid type B receptor subunit 1 precursor

Size: 961 amino acids; 108320 Da

Cofactor: Calcium. Required for high affinity binding to GABA

Subunit: Heterodimer of GABA-B-R1 and GABA-B-R2. Neither of which is effective on its own and

homodimeric assembly does not seem to happen. Isoform 1E (without C-terminal intracellular domain)

is unable to dimerize via a coiled-coil interaction with GABA-B-R2. Interacts with the leucine

zipper of the C-terminal bZIP domain of ATF4 via its C-terminal region. Interacts with JAKMIP1

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

postsynaptic cell membrane; Multi-pass membrane protein. Note=Colocalizes with ATF4 in hippocampal

neuron dendritic membranes (By similarity). Moreover coexpression of GABA-B-R1 and GABA-B-R2

appears to be a prerequisite for maturation and transport of GABA-B-R1 to the plasma membrane

Subcellular location: Isoform 1E: Secreted (Probable)

Secondary accessions: B0UXY7 O95375 O95468 O95975 O96022 Q86W60 Q9UQQ0

Alternative splicing: 5 isoforms: Q9UBS5-1 Q9UBS5-2 Q9UBS5-3 Q9UBS5-4 Q9UBS5-5 (Isoforms corresponding to the full receptor are essentially found in the central nervous system (CNS))

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_001461.1 NP_068703.1 NP_068704.2 NP_068705.2

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant GABBR1 Protein
	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 B Receptor 1)
	Human Recombinant Proteins from Abnova (GABBR1)

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0005887	integral to plasma membrane	TAS	9753614
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--

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Antibodies for GABBR1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of GABBR1
	Sigma-Aldrich Antibodies for GABBR1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for GABBR1 (GABA(B)R1)
	Antibodies from Abcam (GABA B Receptor 1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (GABBR1)
	Novus Biologicals Antibodies for GABBR1

Assays for GABBR1:

	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)
About This Section

Graphical View of Domain Structure for InterPro Entry Q9UBS5

ProtoNet protein and cluster: Q9UBS5

4 Blocks protein families:

IPB000436 Sushi domain/SCR domain/CCP module

IPB001828 Extracellular ligand-binding receptor

IPB002455 Metabotropic gamma-aminobutyric acid type B receptor signature

IPB002456 Metabotropic gamma-aminobutyric acid type B1 receptor signature

UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5

Domain: Alpha-helical parts of the C-terminal intracellular region mediate heterodimeric

interaction with GABA-B receptor 2. The linker region between the transmembrane domain 3 (TM3) and

the transmembrane domain 4 (TM4) probably play a role in the specificity for G-protein coupling

Similarity: Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily

Similarity: Contains 2 Sushi (CCP/SCR) domains

(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.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (GABBR1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABBR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_021903

Applied Biosystems Silencer® siRNAs for GABBR1

Sigma-Aldrich siRNA and siRNA Panels for GABBR1

Sigma-Aldrich shRNA Panels and shRNA for GABBR1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for GABBR1
		Millipore Clones for the Expression of GABBR1

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001470
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001470
untagged cDNA clones in CMV expression vector (see all 6): AK054975

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001470

UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5

Function: Receptor for GABA. The activity of this receptor is mediated by G-proteins that inhibit

adenylyl cyclase activity, stimulates phospholipase A2, activates potassium channels, inactivates

voltage-dependent calcium-channels and modulates inositol phospholipids hydrolysis. Plays a

critical role in the fine-tuning of inhibitory synaptic transmission. Pre-synaptic GABA-B-R

inhibit neurotransmitter release by down-regulating high-voltage activated calcium channels,

whereas postsynaptic GABA-B-R decrease neuronal excitability by activating a prominent inwardly

rectifying potassium (Kir) conductance that underlies the late inhibitory postsynaptic potentials.

Not only implicated in synaptic inhibition but also in hippocampal long-term potentiation, slow

wave sleep, muscle relaxation and antinociception. Activated by (-)-baclofen, cgp27492 and blocked

by phaclofen

Function: Isoform 1E function may be to regulate the availability of functional

GABA-B-R1A/GABA-B-R2 heterodimers by competing for GABA-B-R2 dimerization. This could explain the

observation that certain small molecule ligands exhibit differential affinity for central versus

peripheral sites

Genatlas biochemistry entry for GABBR1:

gamma-aminobutyric acid (GABA),B receptor 1a,metabotropic expressed in fetal brain,G protein

coupled receptor superfamily,heterodimerizing with GABBR2 for formation of a functional

receptor,producing slow prolonged inhibitory signals,with isoforms (splice variants) expressed in

various peripheral tissues

10 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Gabbr1):

adipose tissue	behavior/neurological	growth/size	homeostasis/metabolism	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system	reproductive system	touch/vibrissae

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0004930	G-protein coupled receptor activity	IEA	--
GO:0004965	GABA-B receptor activity	TAS	9069281
GO:0005515	protein binding	IPI	17474147

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 GABBR1 (Your Favorite Gene powered by Ingenuity)

GABA Receptor Signaling

GeneDecks GABBR1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for GABBR1

5/8 Interacting proteins for GABBR1 (Q9UBS5^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 8 )
Interactant Interaction Details
GeneCard External ID(s)
ABL1 P00519¹ EBI-724156, EBI-375543
CRK P46108¹ EBI-724156, EBI-886
FYN P06241¹ EBI-724156, EBI-515315
GRB2 P62993¹ EBI-724156, EBI-401755
NCK1 P16333¹ EBI-724156, EBI-389883
About this table
3 Gene Ontology (GO) biological process terms (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007194 negative regulation of adenylate cyclase activity TAS 9069281
GO:0007214 gamma-aminobutyric acid signaling pathway TAS 9069281
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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)
About This Section

Enzo Life Sciences drugs & compounds for GABBR1

Sigma-Aldrich Small Molecules for GABBR1:

Antagonist Agonist Allosteric Modulator Inhibitor

Compounds for GABBR1 available from Tocris Bioscience

Compound	Action	CAS number
2-Hydroxysaclofen	Selective GABAB antagonist, more potent than Cat. No. 0246	[117354-64-0]
CGP 55845	Potent, selective GABAB antagonist	[149184-22-5]
SCH 50911	Selective, competitive, orally active GABAB antagonist	[160415-07-6]
CGP 52432	Potent, selective GABAB antagonist	[139667-74-6]

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10/29 Novoseek chemical compound relationships for GABBR1 gene (see all 29 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
3-aminopropylphosphonic acid	83.80	2	7791524 (1), 8588821 (1)
cgp 54626	79.64	2	15780467 (1), 16054235 (1)
4-aminobutylphosphonic acid	78.70	1	7820696 (1)
(3-(aminopropyl)methyl)phosphinic acid	76.14	2	8863850 (1), 10328880 (1)
ipsp	75.35	4	7822122 (1), 8105549 (1), 1709527 (1), 7918804 (1)
picrotoxin	73.91	4	1324594 (1), 7509709 (1), 15780467 (1), 8985878 (1)
nipecotic acid	73.35	1	1336151 (1)
calcium	51.74	74	9497417 (5), 7931577 (4), 7674378 (3), 10085358 (3) (see all 41)
benzodiazepines	44.24	1	1316753 (1)
chloride	43.32	9	1378638 (1), 2177529 (1), 10791039 (1), 1657254 (1) (see all 7)

About this table

(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 (GABBR1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (GABBR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_021903

Sigma-Aldrich siRNA and siRNA Panels for GABBR1

Sigma-Aldrich shRNA Panels and shRNA for GABBR1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001470 NM_021903 NM_021904 NM_021905

REFSEQ mRNAs for GABBR1 gene (4 alternative transcripts):

NM_001470.2 NM_021903.2 NM_021904.2 NM_021905.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001470 NM_021903 NM_021904 NM_021905

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001470
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001470
                                 untagged cDNA clones in CMV expression vector (see all 6): AK054975

Additional cDNA sequence:

AB208790.1 AF099148.1 AF301005.1 AJ012185.1 AJ012186.1 AJ012187.1 AJ012288.1 AJ225028.1

AJ225029.1 AK223619.1 AK290191.1 AK312308.1 BC023336.1 BC041332.2 BC042598.1 BC050532.1

Y11044.1

22 DOTS entries:

DT.95211539 DT.100026748 DT.115251 DT.95211540 DT.92436187 DT.75100156 DT.97766596 DT.95107679

DT.92027647 DT.95211542 DT.97788865 DT.97816854 DT.100653178 DT.121390495 DT.95120241 DT.121390492

DT.121390500 DT.121390508 DT.95211520 DT.95226656 DT.40131925 DT.75185597

24/255 AceView cDNA sequences (see all 255 ):

AI668882 T81224 BM661640 AW105586 BX107545 BX090421 BX644916 AW090617

AU118171 NM_021903 CF552729 BX280913 BM710330 Y11044 BM991831 AA583465

BE047768 BM126950 BX111922 AL602784 AJ012185 NM_001470 NM_021904 W07715

highest scoring ESTs for GABBR1:

AJ225028 AF099148 AJ012288 AL539611 BI818958 AI866545 AW380765 AW380836 AW380851 AW380855

Unigene Cluster for GABBR1:

Gamma-aminobutyric acid (GABA) B receptor, 1

Hs.167017 [show with all ESTs]

Unigene Representative Sequence: NM_001470

GeneLoc Exon Structure

(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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GABBR1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GABBR1

¹ / ² / ³

5 probe-sets matching GABBR1 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
86077_i_at²^{, 3}	U95-E	3	1.00	0.33	0.90	0.79	T06711	0.20	1.00	0.72	1
32623_at²^{, 3}	U95-A	3	1.00	0.33	0.87	1.35	AJ225028	1.00	0.90	0.95	1
82572_at²^{, 3}	U95-D	3	0.62	0.33	0.85	0.89	AI633778	0.60	0.83	0.73	1
203146_s_at²^{, 3}	U133-A	3	1.00	0.33	--	--	NM_001470	0.60	0.83	0.73	1
203146_s_at²	U133Plus2	3	1.00	0.33	--	--	--	--	--	--	--

GeneDecks GABBR1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TACTACCCTC

SOURCE GeneReport for Unigene cluster: Hs.167017
Expression variation in blood from EXPOLDB for GABBR1
UniProtKB/Swiss-Prot: GABR1_HUMAN, Q9UBS5
Tissue specificity: Highly expressed in brain and weakly in heart, small intestine and uterus.
Mostly expressed in granular cell and molecular layer for isoform 1A and in Purkinje cells form
isoform 1B. Isoform 1E is predominantly expressed in peripheral tissues as kidney, lung, trachea,
colon, small intestine, stomach, bone marrow, thymus and mammary gland

(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)
About This Section

Orthologs for GABBR1 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	GABBR1¹	--	gamma-aminobutyric acid (GABA) B receptor, 1	88.63(n) 94.96(a)	488340 XM_545462.2 XP_545462.2
chimpanzee (Pan troglodytes)	GABBR1¹	--	gamma-aminobutyric acid (GABA) B receptor, 1	99.7(n) 100(a)	471946 XM_527324.2 XP_527324.2
cow (Bos taurus)	GABBR1¹	--	gamma-aminobutyric acid (GABA) B receptor, 1	93.51(n) 99.58(a)	513785 XM_869595.2 XP_874688.1
rat (Rattus norvegicus)	Gabbr1¹	--	gamma-aminobutyric acid (GABA) B receptor 1	91.53(n) 98.75(a)	81657 NM_031028.2 NP_112290.2
mouse (Mus musculus)	Gabbr1^{1, 5}	17 (20.40 cM)⁵	gamma-aminobutyric acid (GABA) B receptor, 1⁵ gamma-aminobutyric acid (GABA-B) receptor, 1¹	91.35(n)¹ 98.75(a)¹	54393¹ NM_019439.3¹ NP_062312.3¹ AF008649⁵ AF114168⁵ (see all 15)

About this table Species with no ortholog for GABBR1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

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

10/262 NCBI SNPs in GABBR1 are shown (see all 262 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 137)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs362515^1,2	C,F,H,O	29677511(-)	`CTAAGC/TATCCC`	4	--	ng5¹		7	NA EU EA WA	562
	rs3025643^1,2	A,C,F,H	29677934(-)	`GGAGGC/TTCAGA`	4	--	ng5¹		17	EU EA WA NS NA	1642
	rs2267633^1,2	A,C,F,H	29678820(+)	`AGTATA/GGAAGG`	4	--	ut3¹		17	EA NA EU WA NS	3072
	rs3025642^1,2	C,F,H	29678295(-)	`CTGCTC/TAGATT`	4	--	ut3¹		4	EU EA WA	420
	rs29230^1,2	C,F,H	29684372(-)	`CAGTTT/CCCTTT`	4	F/F	syn¹ ut3¹		19	EA NA EU WA NS	2466
	rs2076489^1,2	C,F,H	29684416(-)	`CTGTCT/CTCCCC`	4	L/F	mis¹ ut3¹		13	EA EU WA	2742
	rs3025640^1,2	C,F,H	29678644(-)	`TTCCCG/ATATGC`	4	--	ut3¹		7	NA EU EA WA	558
	rs12189690^1,2	H	29680685(+)	`GCAAAG/TGCTGC`	4	A/A	syn¹ ut3¹		4	EU EA WA	420
	rs3025641^1,2	H	29678482(-)	`CGTCCA/GTGTTT`	4	--	ut3¹		4	EU EA WA	420
	rs9257923^1,2	H	29679021(+)	`GGCAGC/TGTGTG`	4	--	ut3¹		4	EU EA WA	420

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HapMap Linkage Disequilibrium images for GABBR1 (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.)
About This Section

OMIM: 603540

10/20 Novoseek disease relationships for GABBR1 gene (see all 20 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
absence seizures	75.00	27	10514818 (3), 8848463 (3), 10402495 (2), 1321503 (2) (see all 16)
alcohol withdrawal seizures	53.49	2	16800828 (1)
epilepsy temporal lobe	49.33	11	18255321 (2), 15799783 (2), 16278087 (2), 18653317 (2) (see all 5)
epilepsy, idiopathic generalized	43.91	5	10402495 (2), 9933300 (1), 9844003 (1)
alcohol withdrawal	40.85	5	8974335 (1), 18047908 (1), 16800828 (1)
epilepsy	40.80	8	10402495 (1), 10514818 (1), 11295833 (1), 10514872 (1) (see all 8)
myoclonic epilepsy juvenile	26.52	4	10402495 (1), 9933300 (1)
alcoholism	18.39	13	8974335 (3), 10412185 (3), 8974333 (1), 16800828 (1)
mood disorders	5.92	1	8009935 (1)
tetanus	5.34	3	11436597 (1), 17691381 (1), 17370766 (1)

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Human Gene Mutation Database: GABBR1
Genetic Association Database: GABBR1
Human Genome Epidemiology Navigator: GABBR1 (16 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/257 PubMed articles for GABBR1 gene (see all 257 ):

GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. (PubMed id 9753614)^{2, 3, 4} Grifa A.... Gasparini P. (1998)
Human gamma-aminobutyric acid B receptor gene: complementary DNA cloning, expression, chromosomal location, and genomic organization. (PubMed id 9798068)^{2, 3, 4} Goei V.L....Gruen J.R. (1998)
Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia. (PubMed id 15820424)^{1, 3, 6} Zai G....Kennedy J.L. (2005)
Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. (PubMed id 10402495)^{1, 3, 4} Sander T....Riess O. (1999)
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. (PubMed id 15799783)^{1, 3, 6} Ma S....Hedera P. (2005)
Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy. (PubMed id 9933300)^{1, 3, 4} Peters H.C.... Riess O. (1998)
Molecular cloning of human GABABR1 and its tissue distribution. (PubMed id 9889352)^{1, 3, 4} Makoff A. (1999)
Role of heteromer formation in GABAB receptor function. (PubMed id 9872744)^{1, 3, 4} Kuner R....Kornau H.-C. (1999)
Human gamma-aminobutyric acid type B receptors are differentially expressed and regulate inwardly rectifying K+ channels. (PubMed id 9844003)^{1, 3, 4} Kaupmann K.... Bettler B. (1998)
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy? (PubMed id 15857448)^{3, 6} Tan N.C....Mulley J.C. (2005)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2550	HGNC: 4070	AceView: GABBR1andUBD	euGenes: HUgn2550	ECgene: GABBR1
H-InvDB: GABBR1

(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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Licensable Technologies for GABBR1
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for GABBR1:

TaqMan ® Gene Expression Assays

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Search OriGene for GABBR1

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Antibodies for GABBR1

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GABBR1 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for GABBR1

Summaries
for GABBR1

Genomic Location
for GABBR1

Proteins
for GABBR1

Protein Domains/
Families
for GABBR1

Gene Function
for GABBR1

Pathways & Interactions
for GABBR1

Drugs & Compounds
for GABBR1

Transcripts
for GABBR1

Expression
for GABBR1

Orthologs
for GABBR1

Paralogs
for GABBR1

SNPs/Variants
for GABBR1

Disorders & Mutations
for GABBR1

Medical News
for GABBR1

Publications
for GABBR1

Search for GABBR1

Genome Databases showing GABBR1

Other Databases showing GABBR1

Specialized Databases showing GABBR1

Licensable Technologies
for GABBR1

Services
for GABBR1

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

GABBR1 (Gene Symbol)
FLJ92613
GABA-B-R1
GABAB(1e)
GABABR1
GABBR1-3
GPRC3A
Gb1
OTTHUMP00000029114
OTTHUMP00000029115
OTTHUMP00000029116
OTTHUMP00000109099
dJ271M21.1.1
dJ271M21.1.2
hGB1a
GABA-B receptor
GABA-B receptor 1
GABAB, subunit 1c
gamma-aminobutyric acid (GABA) B receptor 1
gamma-aminobutyric acid (GABA) B receptor, 1
gamma-aminobutyric acid B receptor, 1
seven transmembrane helix receptor

GABBR1 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor GABBR1

Summariesfor GABBR1

Genomic Locationfor GABBR1

Proteinsfor GABBR1

Protein Domains/Familiesfor GABBR1

Gene Functionfor GABBR1

Pathways & Interactionsfor GABBR1

Drugs & Compoundsfor GABBR1

Transcriptsfor GABBR1

Expression for GABBR1

Orthologsfor GABBR1

Paralogsfor GABBR1

SNPs/Variantsfor GABBR1

Disorders & Mutationsfor GABBR1

Medical Newsfor GABBR1

Publicationsfor GABBR1

Search for GABBR1

Genome Databases showing GABBR1

Other Databases showing GABBR1

Specialized Databases showing GABBR1

Licensable Technologiesfor GABBR1

Servicesfor GABBR1

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 GABBR1

Summaries
for GABBR1

Genomic Location
for GABBR1

Proteins
for GABBR1

Protein Domains/
Families
for GABBR1

Gene Function
for GABBR1

Pathways & Interactions
for GABBR1

Drugs & Compounds
for GABBR1

Transcripts
for GABBR1

Expression
for GABBR1

Orthologs
for GABBR1

Paralogs
for GABBR1

SNPs/Variants
for GABBR1

Disorders & Mutations
for GABBR1

Medical News
for GABBR1

Publications
for GABBR1

Licensable Technologies
for GABBR1

Services
for GABBR1