UniProt functional annotation for P31644



	UniProt functional annotation for P31644

UniProt code: P31644.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671). {ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31056671}.

Subunit: Generally pentameric. There are five types of GABA(A) receptor subunits: alpha, beta, gamma, delta, and rho.

Subcellular location: Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:31056671}; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:31056671}; Multi-pass membrane protein.

Disease: Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum. {ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31056671}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 sub- subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671). {ECO:0000269\|PubMed:29961870, ECO:0000269\|PubMed:31056671}.


Subunit:		Generally pentameric. There are five types of GABA(A) receptor subunits: alpha, beta, gamma, delta, and rho.
Subcellular location:		Cell junction, synapse, postsynaptic cell membrane {ECO:0000269\|PubMed:31056671}; Multi-pass membrane protein. Cell membrane {ECO:0000269\|PubMed:31056671}; Multi-pass membrane protein.
Disease:		Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum. {ECO:0000269\|PubMed:29961870, ECO:0000269\|PubMed:31056671}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA5 sub- subfamily. {ECO:0000305}.