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GABRA1 (mouse)

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; membrane; integral to plasma membrane; plasma membrane; integral to membrane; synapse; cell junction Molecular Function: chloride channel activity; protein binding; GABA-A receptor activity; GABA receptor activity; ion channel activity; drug binding; extracellular ligand-gated ion channel activity Biological Process: transport; synaptic transmission, GABAergic; ion transport; chloride transport; gamma-aminobutyric acid signaling pathway Reference #:  P62812 (UniProtKB) Alt. Names/Synonyms: GABA(A) receptor subunit alpha-1; GABAA alpha 1; Gabra-1; Gabra1; gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1; gamma-aminobutyric acid (GABA-A) receptor, subunit alpha 1; Gamma-aminobutyric acid receptor subunit alpha-1; GBRA1; OTTMUSP00000005606 Gene Symbols: Gabra1 Molecular weight: 51,754 Da Basal Isoelectric point: 9.34  Predict pI for various phosphorylation states CST Pathways:  PI3K/Akt Signaling

Select Structure to View Below GABRA1

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	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.			mouse
0	1		S22	TLILSTLSGRSYGQP
0	1		Y86	VSDHDMEYTIDVFFR
0	1		T87	SDHDMEYTIDVFFRQ
0	1		Y155	TEDGTLLYTMRLTVR
0	1		Y341-p	NYFTKRGyAWDGKsV
0	1		S347-p	GyAWDGKsVVPEKPK
0	1		K363-u	VKDPLIKkNNTyAPT
0	1		T366	PLIKkNNTyAPTATS
0	43		Y367-p	LIKkNNTyAPTATSy
0	12		Y374-p	yAPTATSytPNLARG
2	4		T375-p	APTATSytPNLARGD
0	1		K390-u	PGLATIAkSATIEPK

	human
T22-p	ILLLSTLtGRSYGQP
Y87-p	VSDHDMEytIDVFFR
T88-p	SDHDMEytIDVFFRQ
Y156-p	TEDGTLLyTMRLTVR
Y342	NYFTKRGYAWDGKSV
S348	GYAWDGKSVVPEKPK
K364	VKDPLIKKNNTyAPT
T367	PLIKKNNTyAPTATS
Y368-p	LIKKNNTyAPTATSy
Y375-p	yAPTATSyTPNLARG
T376	APTATSyTPNLARGD
K391	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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