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GABRA1 (human)

Overview GABRA1 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4). A subtype of idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5). A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily. Note: This description may include information from UniProtKB. Protein type: Membrane protein, integral; Channel, ligand-gated Cellular Component: postsynaptic membrane; integral to plasma membrane; plasma membrane; cell junction Molecular Function: chloride channel activity; GABA-A receptor activity; GABA receptor activity; drug binding; extracellular ligand-gated ion channel activity Biological Process: synaptic transmission; transport; synaptic transmission, GABAergic; transmembrane transport; gamma-aminobutyric acid signaling pathway Reference #:  P14867 (UniProtKB) Alt. Names/Synonyms: ECA4; EJM; EJM5; GABA(A) receptor subunit alpha-1; GABRA1; gamma-aminobutyric acid (GABA) A receptor, alpha 1; Gamma-aminobutyric acid receptor subunit alpha-1; GBRA1 Gene Symbols: GABRA1 Molecular weight: 51,802 Da Basal Isoelectric point: 9.27  Predict pI for various phosphorylation states CST Pathways:  PI3K/Akt Signaling

Select Structure to View Below GABRA1

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 137160 606904 611136  |  Source  |  UCSD-Nature  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		T22-p	ILLLSTLtGRSYGQP
0	1		Y87-p	VSDHDMEytIDVFFR
0	1		T88-p	SDHDMEytIDVFFRQ
0	1		Y156-p	TEDGTLLyTMRLTVR
0	1		Y342	NYFTKRGYAWDGKSV
0	1		S348	GYAWDGKSVVPEKPK
0	1		K364	VKDPLIKKNNTyAPT
0	1		T367	PLIKKNNTyAPTATS
0	43		Y368-p	LIKKNNTyAPTATSy
0	12		Y375-p	yAPTATSyTPNLARG
2	4		T376	APTATSyTPNLARGD
0	1		K391	PGLATIAKSATIEPK

	mouse
S22	TLILSTLSGRSYGQP
Y86	VSDHDMEYTIDVFFR
T87	SDHDMEYTIDVFFRQ
Y155	TEDGTLLYTMRLTVR
Y341-p	NYFTKRGyAWDGKsV
S347-p	GyAWDGKsVVPEKPK
K363-u	VKDPLIKkNNTyAPT
T366	PLIKkNNTyAPTATS
Y367-p	LIKkNNTyAPTATSy
Y374-p	yAPTATSytPNLARG
T375-p	APTATSytPNLARGD
K390-u	PGLATIAkSATIEPK

	rat
S22	TLILSTLSGRSYGQP
Y86	VSDHDMEYTIDVFFR
T87	SDHDMEYTIDVFFRQ
Y155	TEDGTLLYTMRLTVR
Y341	NYFTKRGYAWDGKSV
S347	GYAWDGKSVVPEKPK
K363	VKDPLIKKNNtyAPT
T366-p	PLIKKNNtyAPTATS
Y367-p	LIKKNNtyAPTATSy
Y374-p	yAPTATSytPNLARG
T375-p	APTATSytPNLARGD
K390	PGLATIAKSATIEPK

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