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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GABRR1 Gene

protein-coding GIFtS: 61
GCID: GC06M089944

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

(Previous names: gamma-aminobutyric acid (GABA) receptor, rho 1 )

Explore 11 diseases affiliated with
GABRR1 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, Rho 1¹ ²		BA135P14.1 (Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1)²
Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1¹ ²		GABA(A) Receptor, Rho 1²
GABA(A) Receptor Subunit Rho-1² ³		Gamma-Aminobutyric Acid (GABA) A Receptor, Rho-1²
GABA(C) Receptor² ³		Gamma-Aminobutyric Acid Receptor Subunit Rho-1²

External Ids:	HGNC: 4090¹	Entrez Gene: 2569²	Ensembl: ENSG00000146276⁷	OMIM: 137161⁵	UniProtKB: P24046³

Export aliases for GABRR1 gene to outside databases

Previous GC identifers: GC06M089834 GC06M089883 GC06M087103

(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 GABRR1:

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are

ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding

different isoforms have been found for this gene. (provided by RefSeq, Feb 2012)

UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046

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. Rho-1 GABA receptor could play a role in

retinal neurotransmission

summary for GABRR1:

GABAC receptors are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory

effects of GABA. Despite differing in physiology, biochemistry and pharmacology, GABAC receptors are viewed

as a subclass of GABAA receptors. GABAC receptors exist as both homo- and hetero-oligomeric pentamers of the

3 GABAC subunits which have so far been discovered; rho1, rho2, rho3. The resulting ion channel is not

blocked or modulated by GABAA receptor ligands, but is 10 times more sensitive to the effects of GABA and

selectively blocked by TPMPA. In addition, the GABAC receptor has a longer channel opening time and is

slower to desensitize. GABAC receptors are expressed in various brain regions and particularly high levels

are found in the retina.

Gene Wiki entry for GABRR1

(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_000006.11 NC_018917.1 NT_007299.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GABRR1 gene promoter:
ER-alpha AML1a Olf-1 GATA-1 GATA-2 AREB6 CREB MZF-1 NRF-2 Sox9
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GABRR1 promoter sequence

Search SABiosciences Chromatin IP Primers for GABRR1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRR1

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

Entrez Gene cytogenetic band: 6q15 Ensembl cytogenetic band: 6q15 HGNC cytogenetic band: 6q15

GABRR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRR1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M089944: view genomic region (about GC identifiers)

Start:	89,887,220 bp from pter	End:	89,940,997 bp from pter
Size:	53,778 bases	Orientation:	minus 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: GBRR1_HUMAN, P24046 (See protein sequence)

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

Size: 479 amino acids; 55883 Da

Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.

Interacts with SQSTM1 (By similarity)

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

Multi-pass membrane protein

Sequence caution: Sequence=AAA52509.1; Type=Erroneous initiation; Sequence=AAI30345.1; Type=Erroneous initiation;

Secondary accessions: A1L401 B4DJK8 Q9BX06

Alternative splicing: 2 isoforms: P24046-1 P24046-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GABRR1: NX_P24046

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P24046

GABRR1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001243632.1 NP_001243633.1 NP_001254511.1 NP_002033.2

ENSEMBL proteins:

ENSP00000412673 ENSP00000358463 ENSP00000410130 ENSP00000394687

Reactome Protein details: P24046
Human Recombinant Protein Products for GABRR1:

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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	TAS	10779366
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--
GO:0034707	chloride channel complex	IEA	--

GABRR1 for ontologies About GeneDecksing

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

GABRR1 for domains About GeneDecksing

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

IPR008057 GABAAa_rho_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR008058 GABAAa_rho1_rcpt

IPR006201 Neur_channel

Graphical View of Domain Structure for InterPro Entry P24046

ProtoNet protein and cluster: P24046

4 Blocks protein families:

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

IPB008057 Gamma-aminobutyric-acid A (GABAA) receptor rho subunit signature

IPB008058 Gamma-aminobutyric-acid A (GABAA) receptor rho 1 subunit signature

UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046

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

subfamily. GABRR1 sub-subfamily

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: GBRR1_HUMAN, P24046

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. Rho-1 GABA receptor could play a role in

retinal neurotransmission

Genatlas biochemistry entry for GABRR1:

gamma-aminobutyric acid (GABA) C receptor,ionotropic,rho 1,preferentially expressed in retina,subunit part of a

trimeric receptor,mediating inhibitory neurotransmission,colocalizing with MAP1B at post synaptic sites on bipolar

cell axon terminals

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): 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:0016917	GABA receptor activity	--	--
GO:0019904	protein domain specific binding	--	--

GABRR1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GABRR1:

Increased gamma-H2AX phosphory

5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gabrr1):

behavior/neurological

integument

nervous system

taste/olfaction

vision/eye

GABRR1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for GABRR1: Gabrr1^tm1Llu Gabrr1^tm1Nsp

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GABRR1

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		hsa-miR-4311 hsa-miR-1276 hsa-miR-520g hsa-miR-4276 hsa-miR-578 hsa-miR-583
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRR1

(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 - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

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

GABA A (rho) receptor activation

GABA A (rho) receptor activation

1.00

Activation of GABAB receptors

GABA receptor activation

0.72

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GABRR1

Sperm Motility

5/8 Reactome Pathways for GABRR1 (see all 8)

	Ligand-gated ion channel transport
	Transmission across Chemical Synapses
	Ion channel transport
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

1 Kegg Pathway (Kegg details for GABRR1):

Neuroactive ligand-receptor interaction

GABRR1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GABRR1

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/17 Interacting proteins for GABRR1 (P24046³ ENSP00000412673⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SQSTM1	Q13501³, ENSP00000374455⁴	I2D: score=2 STRING: ENSP00000374455
GABRR2	P28476³, ENSP00000386029⁴	I2D: score=1 STRING: ENSP00000386029
MAP1B	P46821³, ENSP00000296755⁴	I2D: score=1 STRING: ENSP00000296755
MAPK1	P28482³, ENSP00000215832⁴	I2D: score=1 STRING: ENSP00000215832
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	1849271
GO:0007214	gamma-aminobutyric acid signaling pathway	TAS	10779366
GO:0007268	synaptic transmission	TAS	--
GO:0034220	ion transmembrane transport	TAS	--
GO:0055085	transmembrane transport	TAS	--

GABRR1 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GABRR1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Muscimol	Potent GABAA agonist	[2763-96-4]
SKF 97541	Extremely potent GABAB agonist	[127729-35-5]
TPMPA	Selective GABAC antagonist	[182485-36-5]
THIP hydrochloride	GABAA agonist	[64603-91-4]
GABA	Endogenous agonist	[56-12-2]

2 HMDB Compounds for GABRR1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Gamma-Aminobutyric acid	3-Carboxypropylamine (see all 27)	56-12-2	--

10/23 DrugBank Compounds for GABRR1 (see all 23) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Picrotoxin	--	124-87-8	target	antagonist	20491873 17139284 17016423 18446586
Lorazepam	(+/-)-Lorazepam (see all 3)	846-49-1	target	potentiator	20138190 18384456 11752090
Adinazolam	--	37115-32-5	target	potentiator	6320036 6148400
Chlordiazepoxide	--	58-25-3	target	potentiator	18384456 11752090
Clobazam	--	22316-47-8	target	potentiator	18384456 11752090
Clonazepam	Chlonazepam (see all 2)	1622-61-3	target	potentiator	18384456 11752090
Clorazepate	--	23887-31-2	target	potentiator	18384456 11752090
Diazepam	--	439-14-5	target	potentiator	18384456 11752090
Estazolam	--	29975-16-4	target	potentiator	639854 2889803
Flurazepam	--	17617-23-1	target	potentiator	18384456 11752090

Search CenterWatch for drugs/clinical trials and news about GABRR1 / GBRR1

(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,
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About This Section

REFSEQ mRNAs for GABRR1 gene (4 alternative transcripts):

NM_001256703.1 NM_001256704.1 NM_001267582.1 NM_002042.4

Unigene Cluster for GABRR1:

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

Hs.99927 [show with all ESTs]

Unigene Representative Sequence: NM_001256704

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

ENST00000454853 ENST00000369451 ENST00000457434(uc011dzw.1) ENST00000481493

ENST00000435811(uc003pna.2 uc011dzv.1)

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Additional cDNA sequence:

AK296124.1 AK298948.1 AK313609.1 BC130344.1 M62400.1

3 DOTS entries:

DT.206595 DT.121408432 DT.75139798

24/26 AceView cDNA sequences (see all 26):

BM679853 BP362696 NM_002042 AI701128 AA018612 BM713762 BE504024 AW949752

AW135923 CD672849 BF510856 T29443 BM718121 BF433967 AW291504 M62400

AA317912 BE326459 BE549935 BF433385 BG210490 AW949745 AA018065 BG191058

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

GABRR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGTAAAGGA

About this image

GABRR1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Eye

Inner Nuclear Layer

Mature Rod Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GABRR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GABRR1

SOURCE GeneReport for Unigene cluster: Hs.99927

UniProtKB/Swiss-Prot: GBRR1_HUMAN, P24046

Tissue specificity: Highly expressed in the retina and in a lesser extent in brain, lung and thymus

SABiosciences Expression via Pathway-Focused PCR Arrays including GABRR1:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRR1

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GABRR1 gene from 3/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GABRR1¹	gamma-aminobutyric acid (GABA) receptor, rho 1	82.25(n) 89.94(a)		428632 XM_426190.2 XP_426190.2
lizard (Anolis carolinensis)	Reptilia	GABRR1⁶	--	90(a)	1 ↔ 1	1(175118557-175144606)
zebrafish (Danio rerio)	Actinopterygii	gabrr1¹	gamma-aminobutyric acid (GABA) receptor, rho 1	73.88(n) 77.22(a)		568984 NM_001025553.1 NP_001020724.1

ENSEMBL Gene Tree for GABRR1 (if available)
TreeFam Gene Tree for GABRR1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GABRR1 gene

GLRA2² GLRB² GLRA1² GABRB1² GABRD² GLRA4² GABRP² GABRB2²

GABRQ² GABRB3² GLRA3² GABRR2²

18/24 SIMAP similar genes for GABRR1 using alignment to 3 protein entries: GBRR1_HUMAN (see all proteins) (see all similar genes):

GABRR2 GABRR3 GABRP GLRA4 GABRD GABRQ

GABRA4 DKFZp781L0846 GABRB3 GABRA5 GABRB1 GLRA1

GLRA2 GLRA3 GABRA2 GABRA6 GABRE GABRG2

GABRR1 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75838344^1,2		--	87122677(+)	`AAGAAA/GAGAAA`	1	--	int¹		0	--	--	--	--
rs117558971^1,2	F	--	89886739(+)	`GAGGTG/AGGAGG`	4	--	ds500¹		1		EA	120
rs117728213^1,2		--	89886804(+)	`CTCTAC/GAAAAA`	4	--	ds500¹		1		EA	120
rs186313849^1,2		--	89886805(+)	`TCTACA/CAAAAC`	4	--	ds500¹		0	--	--	--	--
rs7759461^1,2	C,F,A	--	89886822(+)	`AAATTG/AGCTGA`	4	--	ds500¹		8		NA WA CSA EA	368
rs112036063^1,2	C	--	89886907(+)	`GAGGTC/TGCAGT`	4	--	ds500¹		1		NA	2
rs7763321^1,2	C,F,A	--	89886923(+)	`GAGATC/GGCACC`	4	--	ds500¹		6		NA WA CSA	11
rs7763065^1,2	C,F,A	--	89886975(+)	`AAAAAA/GTAAAA`	4	--	ds500¹		11		NA WA CSA EA	373
rs140750510^1,2	C	--	89887164(+)	`GTAGA-/AATATCAT`	4	--	ds500¹		0	--	--	--	--
rs150179714^1,2		--	89887354(+)	`AGATTA/GGAACC`	4	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GABRR1 (89887220 - 89940997 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for GABRR1
     1 CNV: 99623
     8 Indels: 47178 62544 81498 42707 81497 64591 40886 93887
     2 Inversions: 59829 103364

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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GABRR1 for disorders           About GeneDecksing

OMIM gene information: 137161    OMIM disorders: --

11 diseases for GABRR1:    About MalaCards

essential tremor fundus dystrophy anorexia nervosa schizoaffective disorder

tremor alcohol dependence bipolar disorder alcoholism

retinitis schizophrenia neuronitis

Human Genome Epidemiology (HuGE) Navigator: GABRR1 (8 documents)

Export disorders for GABRR1 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 GABRR1 gene, integrated from 9 sources (see all 57):
(articles sorted by number of sources associating them with GABRR1)

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

Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. (PubMed id 1849271)^{1, 2, 3} Cutting G.R....Kazazian H.H. Jr. (1991)
Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. (PubMed id 1315307)^{1, 3, 9} Cutting G.R....Uhl G.R. (1992)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. (PubMed id 10542332)^{1, 9} Bailey M.E.S.... Darlison M.G. (1999)
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. (PubMed id 22169095)¹ Fernandez T.V....State M.W. (2012)
Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)¹ Green E.K....Craddock N. (2010)
Atypical behavioural effects of lorazepam: clues to t he design of novel therapies? (PubMed id 20138190)⁷ Giersch A....Vidailhet P. (2010)
Intrinsic activation of GABA(A) receptors suppresses epileptiform activity in the cerebral cortex of immature mice. (PubMed id 20491873)⁷ Richter D....Kilb W. (2010)
Functional impact of serial deletions at the C-termin us of the human GABArho1 receptor. (PubMed id 20056107)¹ Reyes-Ruiz J.M....Miledi R. (2010)
Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)¹ Pinheiro A.P....Woodside D.B. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2569	HGNC: 4090	AceView: GABRR1	Ensembl:ENSG00000146276	euGenes: HUgn2569
ECgene: GABRR1	Kegg: 2569	H-InvDB: GABRR1

(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 GABRR1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GABRR1 gene
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Patent Information for GABRR1 gene:
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GABRR1 Gene

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

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GABRR1 Gene

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

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