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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2569

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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

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