GOT2
entrez
2806
canonical
uniprot
P00505
canonical
ensembl
ENSG00000125166
resolver
ensp
ENSP00000245206
resolver
ensp
ENSP00000394100
resolver
genesymbol
GOT2
resolver
genesymbol_syn
KYAT4
resolver
hgnc
HGNC:4433
resolver
uniprot
B4DJA6
resolver
uniprot
E7ERW2
resolver
uniprot
Q53FL3
resolver
uniprot
Q9BWA3
resolver
uniprot_entry
AATM_HUMAN
resolver
uniprot_sec
B4DJA6
resolver
uniprot_sec
E7ERW2
resolver
uniprot_sec
Q53FL3
resolver
uniprot_sec
Q9BWA3
resolver
amino_acid_sequence
MALLHSGRVLPGIAAAFHPGLAAAASARASSWWTHVEMGPPDPILGVTEAFKRDTNSKKMNLGVGAYRDDNGKPYVLPSVRKAEAQIAAKNLDKEYLPIGGLAEFCKASAELALGENSEVLKSGRFVTVQTISGTGALRIGASFLQRFFKFSRDVFLPKPTWGNHTPIFRDAGMQLQGYRYYDPKTCGFDFTGAVEDISKIPEQSVLLLHACAHNPTGVDPRPEQWKEIATVVKKRNLFAFFDMAYQGFASGDGDKDAWAVRHFIEQGINVCLCQSYAKNMGLYGERVGAFTMVCKDADEAKRVESQLKILIRPMYSNPPLNGARIAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKEGSTHNWQHITDQIGMFCFTGLKPEQVERLIKEFSIYMTKDGRISVAGVTSSNVGYLAHAIHQVTK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 82 (DEE82) [MIM:618721]: 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. DEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia. {ECO:0000269|PubMed:31422819}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.6.1.1
uniprot
proteins
ec_number
2.6.1.7
uniprot
proteins
function
FUNCTION: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids. {ECO:0000269|PubMed:31422819, ECO:0000269|PubMed:9537447}.
uniprot
proteins
mass_dalton
47518
uniprot
proteins
protein_family
Class-I pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26902786
uniprot
proteins
pubmed
31422819
uniprot
proteins
pubmed
3207426
uniprot
proteins
pubmed
4052435
uniprot
proteins
pubmed
9537447
uniprot
proteins
sequence_length
430
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:9537447}. Cell membrane {ECO:0000269|PubMed:9537447}. Note=Exposure to alcohol promotes translocation to the cell membrane. {ECO:0000269|PubMed:9537447}.
uniprot
proteins