GAD1
entrez
2571
canonical
uniprot
Q99259
canonical
ensembl
ENSG00000128683
resolver
ensp
ENSP00000350928
resolver
ensp
ENSP00000364421
resolver
ensp
ENSP00000403849
resolver
genesymbol
GAD1
resolver
genesymbol_syn
GAD
resolver
genesymbol_syn
GAD67
resolver
hgnc
HGNC:4092
resolver
uniprot
A0A0S2Z3V5
resolver
uniprot
Q49AK1
resolver
uniprot
Q53TQ7
resolver
uniprot
Q8IVA8
resolver
uniprot
Q9BU91
resolver
uniprot
Q9UHH4
resolver
uniprot_entry
A0A0S2Z3V5_HUMAN
resolver
uniprot_entry
DCE1_HUMAN
resolver
uniprot_entry
Q8IVA8_HUMAN
resolver
uniprot_sec
Q49AK1
resolver
uniprot_sec
Q53TQ7
resolver
uniprot_sec
Q9BU91
resolver
uniprot_sec
Q9UHH4
resolver
amino_acid_sequence
MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAALGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 89 (DEE89) [MIM:619124]: A form of epileptic encephalopathy, a heterogeneous group of 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. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. {ECO:0000269|PubMed:32282878}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.1.15
uniprot
proteins
function
FUNCTION: Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor. {ECO:0000269|PubMed:10671565, ECO:0000269|PubMed:17384644}.; FUNCTION: [Isoform 3]: Enzymatically inactive as glutamate decarboxylase. {ECO:0000269|PubMed:10671565}.
uniprot
proteins
mass_dalton
66897
uniprot
proteins
protein_family
Group II decarboxylase family
uniprot
proteins
pubmed
10671565
uniprot
proteins
pubmed
1339255
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1549570
uniprot
proteins
pubmed
15571623
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
1683462
uniprot
proteins
pubmed
1697032
uniprot
proteins
pubmed
17384644
uniprot
proteins
pubmed
2039509
uniprot
proteins
pubmed
23126365
uniprot
proteins
pubmed
32282878
uniprot
proteins
pubmed
33634263
uniprot
proteins
pubmed
8088791
uniprot
proteins
pubmed
8507202
uniprot
proteins
pubmed
8507203
uniprot
proteins
sequence_length
594
uniprot
proteins