Gene table of GABRA1 : gamma-aminobutyric acid type A receptor alpha1 subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with GABRA1OMIM linkNumber of associated genesgenes
611136EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13ClinVar, OMIM, HUMSAVAR link to OMIM 1GABRA1
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene GABRA1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 256, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Morphine addictionhsa050326.15
Nicotine addictionhsa050337.38
Retrograde endocannabinoid signalinghsa047236.03
Neuroactive ligand-receptor interactionhsa040804.58
GABAergic synapsehsa047276.24
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
GABA receptor activationR-HSA-9774437.2
Ion channel transportR-HSA-9837125.34
Transmembrane transport of small moleculesR-HSA-3825513.79
Ligand-gated ion channel transportR-HSA-9752988.28
GABA A receptor activationR-HSA-9774419.28
Neuronal SystemR-HSA-1123164.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellR-HSA-1123145.85
Transmission across Chemical SynapsesR-HSA-1123155.28
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
drug bindingGO:00081445.03
GABA receptor activityGO:00169176.65
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
extracellular ligand-gated ion channel activityGO:00052305.42
anion transmembrane transporter activityGO:00085094.43
ligand-gated ion channel activityGO:00152764.8
transmembrane transporter activityGO:00228572.82
inorganic anion transmembrane transporter activityGO:00151034.87
GABA-A receptor activityGO:00048906.79
anion channel activityGO:00052535.23
chloride channel activityGO:00052545.36
chloride transmembrane transporter activityGO:00151085.24
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
passive transmembrane transporter activityGO:00228033.6
substrate-specific transmembrane transporter activityGO:00228912.9
substrate-specific transporter activityGO:00228922.72
ion transmembrane transporter activityGO:00150753.04
transmembrane signaling receptor activityGO:00048882.57
channel activityGO:00152673.6
gated channel activityGO:00228363.96
ligand-gated channel activityGO:00228344.8
substrate-specific channel activityGO:00228383.67
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32