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] See more...

Aliases for GABRR1 Gene

Aliases for GABRR1 Gene

  • Gamma-Aminobutyric Acid Type A Receptor Subunit Rho1 2 3 5
  • Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1 2 3
  • Gamma-Aminobutyric Acid Receptor Subunit Rho-1 3 4
  • GABA(A) Receptor Subunit Rho-1 3 4
  • GABA(A) Receptor, Rho 1 2 3
  • GABA(C) Receptor 3 4
  • BA135P14.1 (Gamma-Aminobutyric Acid (GABA) Receptor, Rho 1) 3
  • Gamma-Aminobutyric Acid Type A Receptor Rho1 Subunit 3
  • Gamma-Aminobutyric Acid (GABA) A Receptor, Rho-1 3
  • GABRR1 5

External Ids for GABRR1 Gene

Previous GeneCards Identifiers for GABRR1 Gene

  • GC06M089834
  • GC06M089883
  • GC06M089944
  • GC06M087103
  • GC06M089887

Summaries for GABRR1 Gene

Entrez Gene Summary for GABRR1 Gene

  • 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]

GeneCards Summary for GABRR1 Gene

GABRR1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Rho1) is a Protein Coding gene. Diseases associated with GABRR1 include Schizoaffective Disorder and Essential Tremor. Among its related pathways are Nicotine addiction and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRR2.

UniProtKB/Swiss-Prot Summary for GABRR1 Gene

  • 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.

Tocris Summary for GABRR1 Gene

  • GABAA-rho receptors, previously known as GABAC receptors, are Cys-loop ionotropic ligand-gated ion channels mediating the fast synaptic inhibitory effects of GABA. Despite differing in pharmacology, physiology and biochemistry, they are viewed as a subclass of GABAA receptors.

Gene Wiki entry for GABRR1 Gene

Additional gene information for GABRR1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GABRR1 Gene

Genomics for GABRR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GABRR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J089218 Promoter 0.8 EPDnew Ensembl 642.9 +13.5 13487 0.4 PKNOX1 GABRR1 lnc-GABRR2-1 SRSF12 PM20D2 piR-32461-166
GH06J089230 Promoter 0.3 Ensembl 628.6 +0.2 188 1 GABRR1 piR-32461-166 SRSF12
GH06J089221 Enhancer 0.7 Ensembl ENCODE 42.9 +8.9 8862 1.2 CREB1 JUND ZNF843 FEZF1 PRDM6 ZNF660 SP7 PKNOX1 GABRR1 piR-32461-166 lnc-GABRR2-1 SRSF12
GH06J089044 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +183.7 183687 10 GATAD2A REST NFKBIZ PRDM1 SP1 CEBPA SOX13 CEBPB NFE2 FOXA2 PNRC1 SRSF12 UBE2J1 GABRR1 GABRR2 RNGTT RRAGD RF00017-5667 piR-51855-034
GH06J089261 Enhancer 0.9 Ensembl ENCODE 13.2 -29.6 -29612 1.8 JUND PKNOX1 IKZF2 HDAC1 EP300 NRF1 MGA MNT MYC NCOR1 GABRR1 SRSF12 HE856084 HSALNG0051859 GABRR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GABRR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GABRR1

Top Transcription factor binding sites by QIAGEN in the GABRR1 gene promoter:
  • AML1a
  • AREB6
  • CREB
  • ER-alpha
  • GATA-1
  • GATA-2
  • MZF-1
  • NRF-2
  • Olf-1
  • Sox9

Genomic Locations for GABRR1 Gene

Genomic Locations for GABRR1 Gene
chr6:89,177,504-89,231,288
(GRCh38/hg38)
Size:
53,785 bases
Orientation:
Minus strand
chr6:89,887,220-89,940,997
(GRCh37/hg19)
Size:
53,778 bases
Orientation:
Minus strand

Genomic View for GABRR1 Gene

Genes around GABRR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GABRR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GABRR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GABRR1 Gene

Proteins for GABRR1 Gene

  • Protein details for GABRR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24046-GBRR1_HUMAN
    Recommended name:
    Gamma-aminobutyric acid receptor subunit rho-1
    Protein Accession:
    P24046
    Secondary Accessions:
    • A1L401
    • B4DJK8
    • B4DQT5
    • B7ZBQ7
    • Q9BX06

    Protein attributes for GABRR1 Gene

    Size:
    479 amino acids
    Molecular mass:
    55883 Da
    Quaternary structure:
    • Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with SQSTM1 (By similarity).
    SequenceCaution:
    • Sequence=AAA52509.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI30345.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GABRR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GABRR1 Gene

Post-translational modifications for GABRR1 Gene

  • Glycosylation at Asn140, Asn234, and Asn274
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GABRR1 Gene

Domains & Families for GABRR1 Gene

Gene Families for GABRR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for GABRR1 Gene

InterPro:
Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Gamma-aminobutyric-acid A (GABAA) receptor rho subunit signature
  • Gamma-aminobutyric-acid A (GABAA) receptor rho 1 subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for GABRR1 Gene

GenScript: Design optimal peptide antigens:
  • GABA(C) receptor (GBRR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24046

UniProtKB/Swiss-Prot:

GBRR1_HUMAN :
  • 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.
Family:
  • 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.
genes like me logo Genes that share domains with GABRR1: view

Function for GABRR1 Gene

Molecular function for GABRR1 Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for GABRR1 Gene

Gene Ontology (GO) - Molecular Function for GABRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004890 contributes_to GABA-A receptor activity TAS,IBA 21873635
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA --
genes like me logo Genes that share ontologies with GABRR1: view
genes like me logo Genes that share phenotypes with GABRR1: view

Animal Models for GABRR1 Gene

MGI Knock Outs for GABRR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GABRR1 Gene

Localization for GABRR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GABRR1 Gene

Cell junction, synapse, postsynaptic cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GABRR1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GABRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GABRR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GABRR1 Gene

Pathways & Interactions for GABRR1 Gene

genes like me logo Genes that share pathways with GABRR1: view

Gene Ontology (GO) - Biological Process for GABRR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007214 gamma-aminobutyric acid signaling pathway TAS 10779366
GO:0007268 chemical synaptic transmission TAS,IBA 21873635
genes like me logo Genes that share ontologies with GABRR1: view

No data available for SIGNOR curated interactions for GABRR1 Gene

Drugs & Compounds for GABRR1 Gene

(37) Drugs for GABRR1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bromazepam Approved, Illicit, Investigational Pharma binder 3
Chlordiazepoxide Approved, Illicit, Investigational Pharma agonist 5
Clobazam Approved, Illicit Pharma antagonist 25
Clonazepam Approved, Illicit Pharma agonist 41
Clorazepate Approved, Illicit Pharma agonist 0

(3) Additional Compounds for GABRR1 Gene - From: HMDB and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(??)-<i>cis</i>-2-CAMP
Agonist, Full agonist
THIP
Agonist, Full agonist, Antagonist
Alpha-hydroxyalprazolam
37115-43-8

(1) Tocris Compounds for GABRR1 Gene

Compound Action Cas Number
TPMPA Selective GABAA-rho antagonist 182485-36-5
genes like me logo Genes that share compounds with GABRR1: view

Transcripts for GABRR1 Gene

mRNA/cDNA for GABRR1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GABRR1

Alternative Splicing Database (ASD) splice patterns (SP) for GABRR1 Gene

No ASD Table

Relevant External Links for GABRR1 Gene

GeneLoc Exon Structure for
GABRR1

Expression for GABRR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GABRR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GABRR1 Gene

This gene is overexpressed in Artery - Aorta (x16.6), Testis (x8.6), and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for GABRR1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GABRR1 Gene



Protein tissue co-expression partners for GABRR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GABRR1

SOURCE GeneReport for Unigene cluster for GABRR1 Gene:

Hs.99927

mRNA Expression by UniProt/SwissProt for GABRR1 Gene:

P24046-GBRR1_HUMAN
Tissue specificity: Highly expressed in the retina and in a lesser extent in brain, lung and thymus.

Evidence on tissue expression from TISSUES for GABRR1 Gene

  • Eye(4.5)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with GABRR1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GABRR1 Gene

Orthologs for GABRR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GABRR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GABRR1 30 31
  • 99.3 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GABRR1 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GABRR1 30 31
  • 91.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GABRR1 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GABRR1 30 31
  • 90.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gabrr1 30
  • 88.59 (n)
Mouse
(Mus musculus)
Mammalia Gabrr1 30 17 31
  • 87.68 (n)
OneToOne
Chicken
(Gallus gallus)
Aves GABRR1 30 31
  • 82.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GABRR1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497913 30
  • 75.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100330554 30
  • 75.2 (n)
gabrr1 31
  • 73 (a)
OneToMany
GABRR1 (1 of 2) 31
  • 69 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rdl 32
  • 42 (a)
CG7589 32
  • 27 (a)
Worm
(Caenorhabditis elegans)
Secernentea gab-1 32
  • 50 (a)
F11H8.2 32
  • 35 (a)
W10G11.16 32
  • 34 (a)
Y46G5A.26 32
  • 33 (a)
gbr-5 32
  • 32 (a)
C53D6.3 32
  • 32 (a)
Y39A3B.2 32
  • 32 (a)
T15B7.16 32
  • 31 (a)
C39B10.2 32
  • 31 (a)
K10D6.1 32
  • 31 (a)
glc-4 32
  • 30 (a)
gbr-4 32
  • 30 (a)
gbr-6 32
  • 30 (a)
F58G6.4 32
  • 30 (a)
T27E9.9 32
  • 29 (a)
F09G2.5 32
  • 27 (a)
F55D10.5 32
  • 26 (a)
T20B12.9 32
  • 26 (a)
Species where no ortholog for GABRR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GABRR1 Gene

ENSEMBL:
Gene Tree for GABRR1 (if available)
TreeFam:
Gene Tree for GABRR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GABRR1: view image

Paralogs for GABRR1 Gene

Variants for GABRR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GABRR1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
782004 Benign: not provided 89,198,067(-) G/A SYNONYMOUS_VARIANT
rs1186902 - p.His27Arg
rs12200969 - p.Met26Val

Additional dbSNP identifiers (rs#s) for GABRR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GABRR1 Gene

Variant ID Type Subtype PubMed ID
dgv10836n54 CNV loss 21841781
dgv3347n106 CNV deletion 24896259
esv1605831 OTHER inversion 17803354
esv2400913 CNV deletion 18987734
esv2479057 CNV deletion 19546169
esv2539853 OTHER inversion 19546169
esv2662166 CNV deletion 23128226
esv2732407 CNV deletion 23290073
esv29539 CNV gain+loss 19812545
esv3265 CNV loss 18987735
esv3540120 CNV deletion 23714750
esv3571284 CNV loss 25503493
esv3609898 CNV loss 21293372
esv3890901 CNV gain 25118596
esv5895 OTHER inversion 19470904
esv9656 CNV loss 19470904
esv997828 CNV gain 20482838
nsv1023532 CNV loss 25217958
nsv1027007 CNV gain 25217958
nsv1068318 OTHER inversion 25765185
nsv1074946 CNV deletion 25765185
nsv1133099 OTHER inversion 24896259
nsv1139867 CNV duplication 24896259
nsv956512 CNV deletion 24416366

Variation tolerance for GABRR1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.81; 86.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GABRR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GABRR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GABRR1 Gene

Disorders for GABRR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GABRR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizoaffective disorder
  • schizo-affective psychosis
essential tremor
  • tremor, hereditary essential, 1
diabetic cataract
  • cataract - diabetic
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GABRR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GABRR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GABRR1 Gene

Publications for GABRR1 Gene

  1. 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. (PMID: 1315307) Cutting GR … Uhl GR (Genomics 1992) 2 3 23
  2. Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. (PMID: 1849271) Cutting GR … Uhl GR (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4
  3. Association study of 182 candidate genes in anorexia nervosa. (PMID: 20468064) Pinheiro AP … Woodside DB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  4. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PMID: 19078961) Craddock N … O'Donovan MC (Molecular psychiatry 2010) 3 41
  5. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PMID: 20583128) Green EK … Craddock N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41

Products for GABRR1 Gene

Sources for GABRR1 Gene