Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2569
Gene name	Gamma-aminobutyric acid type A receptor subunit rho1
Gene symbol	GABRR1
Synonyms (NCBI Gene)	-
Chromosome	6
Chromosome location	6q15
Summary	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

Show/Hide all (71)

miRTarBase ID	miRNA	Experiments
MIRT1010166	hsa-miR-1257	CLIP-seq
MIRT1010167	hsa-miR-197	CLIP-seq
MIRT1010168	hsa-miR-3607-5p	CLIP-seq
MIRT1010169	hsa-miR-3647-3p	CLIP-seq
MIRT1010170	hsa-miR-4282	CLIP-seq
MIRT1010171	hsa-miR-452	CLIP-seq
MIRT1010172	hsa-miR-4668-5p	CLIP-seq
MIRT1010173	hsa-miR-4676-3p	CLIP-seq
MIRT1010174	hsa-miR-5096	CLIP-seq
MIRT1010175	hsa-miR-513a-3p	CLIP-seq
MIRT1999202	hsa-miR-4528	CLIP-seq
MIRT1999203	hsa-miR-4729	CLIP-seq
MIRT1999204	hsa-miR-4789-5p	CLIP-seq
MIRT1999205	hsa-miR-582-5p	CLIP-seq
MIRT2232885	hsa-miR-4652-3p	CLIP-seq
MIRT2449995	hsa-miR-130a	CLIP-seq
MIRT2449996	hsa-miR-130b	CLIP-seq
MIRT2449997	hsa-miR-19a	CLIP-seq
MIRT2449998	hsa-miR-19b	CLIP-seq
MIRT2449999	hsa-miR-301a	CLIP-seq
MIRT2450000	hsa-miR-301b	CLIP-seq
MIRT2450001	hsa-miR-302a	CLIP-seq
MIRT2450002	hsa-miR-302b	CLIP-seq
MIRT2450003	hsa-miR-302c	CLIP-seq
MIRT2450004	hsa-miR-302d	CLIP-seq
MIRT2450005	hsa-miR-302e	CLIP-seq
MIRT2450006	hsa-miR-3666	CLIP-seq
MIRT2450007	hsa-miR-372	CLIP-seq
MIRT2450008	hsa-miR-373	CLIP-seq
MIRT2450009	hsa-miR-4295	CLIP-seq
MIRT2450010	hsa-miR-454	CLIP-seq
MIRT2450011	hsa-miR-519a	CLIP-seq
MIRT2450012	hsa-miR-519b-3p	CLIP-seq
MIRT2450013	hsa-miR-519c-3p	CLIP-seq
MIRT2450014	hsa-miR-520a-3p	CLIP-seq
MIRT2450015	hsa-miR-520b	CLIP-seq
MIRT2450016	hsa-miR-520c-3p	CLIP-seq
MIRT2450017	hsa-miR-520d-3p	CLIP-seq
MIRT2450018	hsa-miR-520e	CLIP-seq
MIRT2450019	hsa-miR-595	CLIP-seq
MIRT2449995	hsa-miR-130a	CLIP-seq
MIRT2449996	hsa-miR-130b	CLIP-seq
MIRT2449997	hsa-miR-19a	CLIP-seq
MIRT2449998	hsa-miR-19b	CLIP-seq
MIRT2449999	hsa-miR-301a	CLIP-seq
MIRT2450000	hsa-miR-301b	CLIP-seq
MIRT2450001	hsa-miR-302a	CLIP-seq
MIRT2450002	hsa-miR-302b	CLIP-seq
MIRT2450003	hsa-miR-302c	CLIP-seq
MIRT2450004	hsa-miR-302d	CLIP-seq
MIRT2450005	hsa-miR-302e	CLIP-seq
MIRT2450006	hsa-miR-3666	CLIP-seq
MIRT2450007	hsa-miR-372	CLIP-seq
MIRT2450008	hsa-miR-373	CLIP-seq
MIRT2450009	hsa-miR-4295	CLIP-seq
MIRT2450010	hsa-miR-454	CLIP-seq
MIRT2450011	hsa-miR-519a	CLIP-seq
MIRT2450012	hsa-miR-519b-3p	CLIP-seq
MIRT2450013	hsa-miR-519c-3p	CLIP-seq
MIRT2450014	hsa-miR-520a-3p	CLIP-seq
MIRT2450015	hsa-miR-520b	CLIP-seq
MIRT2450016	hsa-miR-520c-3p	CLIP-seq
MIRT2450017	hsa-miR-520d-3p	CLIP-seq
MIRT2450018	hsa-miR-520e	CLIP-seq
MIRT2450019	hsa-miR-595	CLIP-seq
MIRT2536557	hsa-miR-154	CLIP-seq
MIRT2536558	hsa-miR-340	CLIP-seq
MIRT2536559	hsa-miR-548g	CLIP-seq
MIRT2536557	hsa-miR-154	CLIP-seq
MIRT2536558	hsa-miR-340	CLIP-seq
MIRT2536559	hsa-miR-548g	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0004890	Function	GABA-A receptor activity	TAS	1849271
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	10779366
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	10779366
GO:0007268	Process	Chemical synaptic transmission	TAS	1849271
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902711	Component	GABA-A receptor complex	IBA

MIM	HGNC	e!Ensembl
137161	4090	ENSG00000146276

P24046

Protein name

Gamma-aminobutyric acid receptor subunit rho-1 (GABA(A) receptor subunit rho-1) (GABAAR subunit rho-1) (GABA(C) receptor)

Protein function

Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain (PubMed:37659407). Rho-containing GABA-gated chloride channe

PDB

8OP9 , 8OQ6 , 8OQ7 , 8OQ8 , 8OQA , 8RH4 , 8RH7 , 8RH8 , 8RH9 , 8RHG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	74 → 281	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	288 → 400	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the retina (PubMed:1849271). Expressed in a lesser extent in brain, lung and thymus (PubMed:1849271). {ECO:0000269|PubMed:1849271}.

Sequence

MLAVPNMRFGIFLLWWGWVLATESRMHWPGREVHEMSKKGRPQRQRREVHEDAHKQVSPI
LRRSPDITKSPLTKSEQLLRIDDHDFSMRPGFGGPAIPVGVDVQVESLDSISEVDMDFTM
TLYLRHYWKDERLSFPSTNNLSMTFDGRLVKKIWVPDMFFVHSKRSFIHDTTTDNVMLRV
QPDGKVLYSLRVTVTAMCNMDFSRFPLDTQTCSLEIESYAYTEDDLMLYWKKGNDSLKTD
ERISLSQFLIQEFHTTTKLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSW
VSFWIDRRAVPARVPLGITTVLTMSTIITGVNASMPRVSYIKAVDIYLWVSFVFVFLSVL
EYAAVNYLTTVQERKEQKLREKLPCTSGLPPPRTAMLDGNYSDGEVNDLDNYMPENGEKP
DRMMVQLTLASERSSPQRKSQRSSYVSMRIDTHAIDKYSRIIFPAAYILFNLIYWSIFS

Sequence length

479

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Morphine addiction Nicotine addiction		GABA receptor activation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20583128, 20889312		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36714595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29703844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29703844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	20820800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28699326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36714595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31646556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	24079818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	9585594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	20583128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20889312		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20889312		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GABRR1 (gamma-aminobutyric acid type A receptor subunit rho1)