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Protein Page:
GABRA1 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

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: Transporter; Transporter, ion channel; Membrane protein, multi-pass; Membrane protein, integral; Channel, ligand-gated
Chromosomal Location of Human Ortholog: 5q34
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

Protein Structure Not Found.


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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
 

Show Multiple Sequence Alignment


 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 9 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-ub VKDPLIKkNNTyAPT
T366 PLIKkNNTyAPTATS
Y367-p LIKkNNTyAPTATSy
Y374-p yAPTATSytPNLARG
T375-p APTATSytPNLARGD
K390-ub 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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