GPT2
entrez
84706
canonical
uniprot
Q8TD30
canonical
ensembl
ENSG00000166123
resolver
ensp
ENSP00000345282
resolver
ensp
ENSP00000413804
resolver
ensp
ENSP00000530292
resolver
genesymbol
GPT2
resolver
genesymbol_syn
AAT2
resolver
genesymbol_syn
ALT2
resolver
hgnc
HGNC:18062
resolver
uniprot
Q8N9E2
resolver
uniprot_entry
ALAT2_HUMAN
resolver
uniprot_sec
Q8N9E2
resolver
amino_acid_sequence
MQRAAALVRRGCGPRTPSSWGRSQSSAAAEASAVLKVRPERSRRERILTLESMNPQVKAVEYAVRGPIVLKAGEIELELQRGIKKPFTEVIRANIGDAQAMGQQPITFLRQVMALCTYPNLLDSPSFPEDAKKRARRILQACGGNSLGSYSASQGVNCIREDVAAYITRRDGGVPADPDNIYLTTGASDGISTILKILVSGGGKSRTGVMIPIPQYPLYSAVISELDAIQVNYYLDEENCWALNVNELRRAVQEAKDHCDPKVLCIINPGNPTGQVQSRKCIEDVIHFAWEEKLFLLADEVYQDNVYSPDCRFHSFKKVLYEMGPEYSSNVELASFHSTSKGYMGECGYRGGYMEVINLHPEIKGQLVKLLSVRLCPPVSGQAAMDIVVNPPVAGEESFEQFSREKESVLGNLAKKAKLTEDLFNQVPGIHCNPLQGAMYAFPRIFIPAKAVEAAQAHQMAPDMFYCMKLLEETGICVVPGSGFGQREGTYHFRMTILPPVEKLKTVLQKVKDFHINFLEKYA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) [MIM:616281]: An autosomal recessive syndrome characterized by severe psychomotor developmental delay, dysarthria, walking difficulties, moderately to severely impaired intellectual development, poor or absent speech, and progressive microcephaly. {ECO:0000269|PubMed:25758935}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.6.1.2
uniprot
proteins
function
FUNCTION: Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. {ECO:0000269|PubMed:11863375, ECO:0000269|PubMed:25758935}.
uniprot
proteins
mass_dalton
57904
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1. {ECO:0000269|PubMed:11863375}.
uniprot
proteins
protein_family
Alanine aminotransferase subfamily
uniprot
proteins
protein_family
Class-I pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
11863375
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25758935
uniprot
proteins
sequence_length
523
uniprot
proteins