GLUD1
entrez
2746
canonical
uniprot
P00367
canonical
ensembl
ENSG00000148672
resolver
ensp
ENSP00000277865
resolver
ensp
ENSP00000507316
resolver
ensp
ENSP00000507729
resolver
ensp
ENSP00000507881
resolver
genesymbol
GLUD1
resolver
genesymbol_syn
GLUD
resolver
hgnc
HGNC:4335
resolver
uniprot
B3KV55
resolver
uniprot
B4DGN5
resolver
uniprot
E9KL48
resolver
uniprot
Q5TBU3
resolver
uniprot_entry
DHE3_HUMAN
resolver
uniprot_entry
E9KL48_HUMAN
resolver
uniprot_sec
B3KV55
resolver
uniprot_sec
B4DGN5
resolver
uniprot_sec
Q5TBU3
resolver
activity_regulation
ACTIVITY REGULATION: Subject to allosteric regulation. Activated by ADP (PubMed:11903050). Inhibited by GTP and ATP (PubMed:11032875, PubMed:11254391, PubMed:11297618, PubMed:11903050, PubMed:9571255). ADP can occupy the NADH binding site and activate the enzyme (PubMed:16023112). Inhibited by SIRT4 (PubMed:16959573). Inhibited by HADH (By similarity). {ECO:0000250|UniProtKB:P26443, ECO:0000269|PubMed:11032875, ECO:0000269|PubMed:11254391, ECO:0000269|PubMed:11297618, ECO:0000269|PubMed:11903050, ECO:0000269|PubMed:16023112, ECO:0000269|PubMed:16959573, ECO:0000269|PubMed:9571255}.
uniprot
proteins
amino_acid_sequence
MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADREDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFGDKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGKHGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYVNAIEKVFKVYNEAGVTFT
uniprot
proteins
disease_involvement
DISEASE: Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762]: A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF6 is an autosomal dominant form characterized by hypoglycemia due to congenital hyperinsulinism combined with persistent hyperammonemia. Clinical features include loss of consciousness due to hypoglycemia, hypoglycemic seizures, and mental retardation. {ECO:0000269|PubMed:10636977, ECO:0000269|PubMed:11214910, ECO:0000269|PubMed:11297618, ECO:0000269|PubMed:9571255}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.4.1.3
uniprot
proteins
function
FUNCTION: Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (PubMed:11032875, PubMed:11254391, PubMed:16023112, PubMed:16959573). Plays a role in insulin homeostasis (PubMed:11297618, PubMed:9571255). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). {ECO:0000250|UniProtKB:P10860, ECO:0000269|PubMed:11032875, ECO:0000269|PubMed:11254391, ECO:0000269|PubMed:11297618, ECO:0000269|PubMed:16023112, ECO:0000269|PubMed:16959573, ECO:0000269|PubMed:9571255}.
uniprot
proteins
mass_dalton
61398
uniprot
proteins
mutagenesis
MUTAGEN 501; /note="S->A: Reduces activity and inhibition by GTP."; /evidence="ECO:0000269|PubMed:11903050"; MUTAGEN 516; /note="R->A: Abolishes activation by ADP."; /evidence="ECO:0000269|PubMed:11903050
uniprot
proteins
post_translational_modification
PTM: ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (PubMed:16959573). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer (PubMed:16023112). {ECO:0000269|PubMed:16023112, ECO:0000269|PubMed:16959573}.
uniprot
proteins
protein_family
Glu/Leu/Phe/Val dehydrogenases family
uniprot
proteins
pubmed
10636977
uniprot
proteins
pubmed
11032875
uniprot
proteins
pubmed
11214910
uniprot
proteins
pubmed
11254391
uniprot
proteins
pubmed
11297618
uniprot
proteins
pubmed
11903050
uniprot
proteins
pubmed
12054821
uniprot
proteins
pubmed
12653548
uniprot
proteins
pubmed
1286669
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16023112
uniprot
proteins
pubmed
16959573
uniprot
proteins
pubmed
19448744
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29192674
uniprot
proteins
pubmed
3368458
uniprot
proteins
pubmed
3377777
uniprot
proteins
pubmed
3399399
uniprot
proteins
pubmed
3426581
uniprot
proteins
pubmed
3585334
uniprot
proteins
pubmed
429360
uniprot
proteins
pubmed
8314555
uniprot
proteins
pubmed
8486350
uniprot
proteins
pubmed
9571255
uniprot
proteins
sequence_length
558
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19448744}. Endoplasmic reticulum {ECO:0000269|PubMed:19448744}. Note=Mostly translocates into the mitochondria, only a small amount of the protein localizes to the endoplasmic reticulum. {ECO:0000269|PubMed:19448744}.
uniprot
proteins