MDH1
entrez
4190
canonical
uniprot
P40925
canonical
ensembl
ENSG00000014641
resolver
ensp
ENSP00000233114
resolver
ensp
ENSP00000410073
resolver
ensp
ENSP00000438144
resolver
ensp
ENSP00000590305
resolver
enst
ENST00000539945
resolver
genesymbol
HEL-S-32
resolver
genesymbol
MDH1
resolver
genesymbol_syn
MDHA
resolver
hgnc
HGNC:6970
resolver
uniprot
A0A5K1VW95
resolver
uniprot
B2R5V5
resolver
uniprot
B4DUN2
resolver
uniprot
B7Z3I7
resolver
uniprot
F5H098
resolver
uniprot
Q6I9V0
resolver
uniprot
V9HWF2
resolver
uniprot_entry
A0A5K1VW95_HUMAN
resolver
uniprot_entry
MDHC_HUMAN
resolver
uniprot_entry
V9HWF2_HUMAN
resolver
uniprot_sec
B2R5V5
resolver
uniprot_sec
B4DUN2
resolver
uniprot_sec
B7Z3I7
resolver
uniprot_sec
F5H098
resolver
uniprot_sec
Q6I9V0
resolver
amino_acid_sequence
MSEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGVPDDLLYSFPVVIKNKTWKFVEGLPINDFSREKMDLTAKELTEEKESAFEFLSSA
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 88 (DEE88) [MIM:618959]: 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. DEE88 is an autosomal recessive severe form characterized by global developmental delay, epilepsy, and progressive microcephaly. {ECO:0000269|PubMed:31538237}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.37
uniprot
proteins
function
FUNCTION: Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:2449162, PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237). Catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species (ROS) (PubMed:34012073). {ECO:0000269|PubMed:2449162, ECO:0000269|PubMed:3052244, ECO:0000269|PubMed:31538237}.
uniprot
proteins
mass_dalton
36426
uniprot
proteins
post_translational_modification
PTM: ISGylated. {ECO:0000269|PubMed:16139798}.; PTM: Acetylation at Lys-118 dramatically enhances enzymatic activity and promotes adipogenic differentiation. {ECO:0000269|PubMed:22693256, ECO:0000269|Ref.8}.
uniprot
proteins
protein_family
LDH/MDH superfamily
uniprot
proteins
protein_family
MDH type 2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16139798
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22693256
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2449162
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3052244
uniprot
proteins
pubmed
31538237
uniprot
proteins
pubmed
34012073
uniprot
proteins
pubmed
7895732
uniprot
proteins
pubmed
8786100
uniprot
proteins
sequence_length
334
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:8786100}.
uniprot
proteins