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GABRA1 (NM_001127648) - gamma-aminobutyric acid type A receptor subunit alpha1

Gamma-Aminobutyric Acid Receptor Subunit Alpha-1 Precursor

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of GABRA1 protein. View all 5 isoforms
GABRA1: gamma-aminobutyric acid receptor subunit alpha-1 precursor
Description:

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008].

Strand
+
Chromosome
5
Protein
456 residues
All mutations
191
PTM sites
0
CDS
161,277,816 - 161,324,428
Transcription
161,277,702 - 161,326,965
16.01% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2554
UniProt
Ensembl