2. Gene
  3. GABRR1 - gamma-aminobutyric acid type A receptor subunit rho1 Gene

GABRR1 - gamma-aminobutyric acid type A receptor subunit rho1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 2569 | Gene type: protein coding

About GABRR1

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,177,504-89,231,288 (from NCBI)

This gene has 7 transcripts (splice variants), 243 orthologues and 45 paralogues. Low expression observed in reference dataset.

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 found for this gene. [provided by RefSeq, Feb 2012]

GABRR1 Products(4)

mRNA Protein Name
NM_001256703.1 NP_001243632.1 gamma-aminobutyric acid receptor subunit rho-1 isoform b precursor
NM_001256704.1 NP_001243633.1 gamma-aminobutyric acid receptor subunit rho-1 isoform c
NM_001267582.2 NP_001254511.1 gamma-aminobutyric acid receptor subunit rho-1 isoform c
NM_002042.5 NP_002033.2 gamma-aminobutyric acid receptor subunit rho-1 isoform a precursor

GABRR1 Protein Structure

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (82 - 281)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (288 - 391)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (435 - 475)

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  • 479 a.a.
Protein Preferred Names Protein Names

gamma-aminobutyric acid receptor subunit rho-1

GABA(A) receptor subunit rho-1

Related Diseases

Diseases Alias
Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential
Accommodative Spasm

Spasm Of Accommodation

Cyclospasm

Ciliary Muscle Spasm

Ciliary Body Spasm
Diabetic Cataract

Cataract - Diabetic
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05225 GABRR1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus GABRR1 VGNC VGNC:29203
Rattus norvegicus GABRR1 RGD RGD:61900
Macaca mulatta GABRR1 VGNC VGNC:72860
Mus musculus GABRR1 MGD MGI:95625
Felis catus GABRR1 VGNC VGNC:102426
Canis familiaris GABRR1 VGNC VGNC:57239
Others GABRR1 NCBI