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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2569
Gene name Gene Name - the full gene name approved by the HGNC.	Gamma-aminobutyric acid type A receptor subunit rho1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GABRR1
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q15
Summary Summary of gene provided in NCBI Entrez 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

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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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Early diabetic kidney disease in type 2 diabetes, Diabetic kidney disease in type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	36714595
Diabetes Mellitus Type 2	Associate	29703844
Diabetic Nephropathies	Associate	29703844
Obesity	Associate	36714595
Ovarian Diseases	Associate	31646556
Retinal Diseases	Associate	24079818
Retinitis Pigmentosa	Associate	9585594

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