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gamma-aminobutyric acid receptor subunit alpha-1; GABA(A) receptor subunit alpha-1 (GABRA1)
Function:
- GABA-A receptor alpha subunit
- binds UBQLN1 (putative)
Structure:
- belongs to the ligand-gated ionic channel (TC 1.A.9) family
Compartment:
- cell junction, synapse, postsynaptic cell membrane
Pathology:
- defects in GABRA1 are a cause of
a) juvenile myoclonic epilepsy
b) childhood absence epilepsy type 4
General
gamma-aminobutyric acid (GABA) A receptor, alpha
glycoprotein
transmembrane 4e protein
Properties
SIZE: entity length = 456 aa
MW = 52 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {1-251}
MOTIF: signal sequence {1-27}
N-glycosylation site {N38}
N-glycosylation site {N138}
cysteine residue {C166}
MODIFICATION: cysteine residue {C180}
cysteine residue {C180}
MODIFICATION: cysteine residue {C166}
transmembrane domain {252-273}
cytoplasmic loop {274-278}
transmembrane domain {279-300}
exoplasmic loop {301-312}
transmembrane domain {313-334}
cytoplasmic loop {335-421}
MOTIF: Tyr phosphorylation site {Y368}
Tyr phosphorylation site {Y375}
transmembrane domain {422-443}
exoplasmic domain {444-456}
Database Correlations
OMIM correlations
MORBIDMAP 137160
UniProt P14867
PFAM correlations
Entrez Gene 2554
Kegg hsa:2554
References
- UniProt :accession P14867
- protein Spotlight; Note: forbidden fruit - Issue 56 of
March 2005
http://www.expasy.org/spotlight/back_issues/sptlt056.shtml