MTHFS
entrez
10588
canonical
uniprot
P49914
canonical
ensembl
ENSG00000136371
resolver
ensembl
ENSG00000259332
resolver
ensp
ENSP00000258874
resolver
genesymbol
MTHFS
resolver
hgnc
HGNC:7437
resolver
uniprot
H3BQ75
resolver
uniprot_entry
MTHFS_HUMAN
resolver
uniprot_sec
H3BQ75
resolver
amino_acid_sequence
MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFIPRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQICLQVPVNENDMKVDEVLYEDSSTA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) [MIM:618367]: An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy. {ECO:0000269|PubMed:30031689}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.3.2
uniprot
proteins
function
FUNCTION: Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate. {ECO:0000269|PubMed:8522195}.
uniprot
proteins
mass_dalton
23256
uniprot
proteins
mutagenesis
MUTAGEN 10; /note="K->A: Reduces activity by 93%."; /evidence="ECO:0000269|PubMed:19738041"; MUTAGEN 14; /note="R->A: Reduces activity by 87%."; /evidence="ECO:0000269|PubMed:19738041"; MUTAGEN 61; /note="E->A: Reduces activity by 94%."; MUTAGEN 145; /note="R->A: Reduces activity by 98%."; /evidence="ECO:0000269|PubMed:19738041"; MUTAGEN 153; /note="Y->A: Reduces activity by 97%."; /evidence="ECO:0000269|PubMed:19738041"; MUTAGEN 154; /note="D->A: Reduces activity by 99%."; /evidence="ECO:0000269|PubMed:19738041
uniprot
proteins
protein_family
5-formyltetrahydrofolate cyclo-ligase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19738041
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
30031689
uniprot
proteins
pubmed
3801490
uniprot
proteins
pubmed
8522195
uniprot
proteins
sequence_length
203
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins