MTHFD1
entrez
4522
canonical
uniprot
P11586
canonical
ensembl
ENSG00000100714
resolver
ensp
ENSP00000438588
resolver
ensp
ENSP00000498336
resolver
ensp
ENSP00000498511
resolver
ensp
ENSP00000610554
resolver
ensp
ENSP00000611239
resolver
enst
ENST00000545908
resolver
enst
ENST00000651537
resolver
enst
ENST00000652337
resolver
enst
ENST00000940495
resolver
enst
ENST00000941180
resolver
genesymbol
MTHFD1
resolver
genesymbol_syn
MTHFC
resolver
genesymbol_syn
MTHFD
resolver
hgnc
HGNC:7432
resolver
uniprot
A0A024R652
resolver
uniprot
A0A384N5Y3
resolver
uniprot
B2R5Y2
resolver
uniprot
F5H2F4
resolver
uniprot
G3V2B8
resolver
uniprot
Q86VC9
resolver
uniprot
Q9BVP5
resolver
uniprot_entry
C1TC_HUMAN
resolver
uniprot_entry
F5H2F4_HUMAN
resolver
uniprot_sec
A0A024R652
resolver
uniprot_sec
A0A384N5Y3
resolver
uniprot_sec
B2R5Y2
resolver
uniprot_sec
G3V2B8
resolver
uniprot_sec
Q86VC9
resolver
uniprot_sec
Q9BVP5
resolver
amino_acid_sequence
MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAAEEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAPEKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAPMHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINYVPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKPGKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSALERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGIKGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLVPSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRFLRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPVSAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVGPEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLPKAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAFDAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIELLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFLYPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF
uniprot
proteins
disease_involvement
DISEASE: Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:12384833, ECO:0000269|PubMed:16552426, ECO:0000269|PubMed:9611072}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:17000706}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Susceptibility to colorectal cancer may be associated with the missense variant p.Arg134Lys, which has been observed in about 16% of the human population. The sequence shown in this entry represents the minor allele, as it is reported in the reference genome. {ECO:0000269|PubMed:17000706}.; DISEASE: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]: An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, and lymphopenia. {ECO:0000269|PubMed:21813566, ECO:0000269|PubMed:25633902, ECO:0000269|PubMed:27707659}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.1.5
uniprot
proteins
ec_number
3.5.4.9
uniprot
proteins
ec_number
6.3.4.3
uniprot
proteins
function
FUNCTION: Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate (PubMed:10828945, PubMed:18767138, PubMed:1881876). These derivatives of tetrahydrofolate are differentially required in nucleotide and amino acid biosynthesis, (6S)-10-formyltetrahydrofolate being required for purine biosynthesis while (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate is used for serine and methionine biosynthesis for instance (PubMed:18767138, PubMed:25633902). {ECO:0000269|PubMed:10828945, ECO:0000269|PubMed:18767138, ECO:0000269|PubMed:1881876, ECO:0000269|PubMed:25633902}.
uniprot
proteins
mass_dalton
101531
uniprot
proteins
mutagenesis
MUTAGEN 49; /note="S->A: No effect on methylenetetrahydrofolate dehydrogenase (NADP+) activity. No effect on methenyltetrahydrofolate cyclohydrolase activity. Decreased affinity for NADP."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 49; /note="S->Q: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 75%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 99%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 52; /note="Y->A,S: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 99%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 70%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 52; /note="Y->F: Slightly reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity. Slightly reduced methenyltetrahydrofolate cyclohydrolase activity. Decreased affinity for NADP and for 5,10-methenyltetrahydrofolate."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 56; /note="K->A,I,S,T: Decreased methylenetetrahydrofolate dehydrogenase (NADP+) activity over 90%. Loss of methenyltetrahydrofolate cyclohydrolase activity."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 56; /note="K->E,M,Q: Moderate decrease of methylenetetrahydrofolate dehydrogenase (NADP+) activity. Loss of methenyltetrahydrofolate cyclohydrolase activity. Strongly decreased affinity for NADP. Increased affinity for 5,10-methenyltetrahydrofolate."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 56; /note="K->R: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity. Reduced methenyltetrahydrofolate cyclohydrolase activity by 99%. No effect on affinity for NADP and 5,10-methenyltetrahydrofolate."; /evidence="ECO:0000269|PubMed:10828945"; MUTAGEN 147; /note="C->Q: Reduced methylenetetrahydrofolate dehydrogenase (NADP+) activity by 50%. Reduced methenyltetrahydrofolate cyclohydrolase activity by 87%."; /evidence="ECO:0000269|PubMed:10828945
uniprot
proteins
pathway_participation
PATHWAY: One-carbon metabolism; tetrahydrofolate interconversion. {ECO:0000269|PubMed:10828945, ECO:0000269|PubMed:18767138, ECO:0000269|PubMed:1881876}.
uniprot
proteins
protein_family
Tetrahydrofolate dehydrogenase/cyclohydrolase family; Formate--tetrahydrofolate ligase family
uniprot
proteins
pubmed
10828945
uniprot
proteins
pubmed
12384833
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16552426
uniprot
proteins
pubmed
17000706
uniprot
proteins
pubmed
18767138
uniprot
proteins
pubmed
1881876
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21813566
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25633902
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27707659
uniprot
proteins
pubmed
3053686
uniprot
proteins
pubmed
9519408
uniprot
proteins
pubmed
9611072
uniprot
proteins
sequence_length
935
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:3053686}.
uniprot
proteins