KEGG   Homo sapiens (human): 4522
Entry
4522              CDS       T01001                                 
Symbol
MTHFD1, CIMAH, MTHFC, MTHFD
Name
(RefSeq) methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
  KO
K00288  methylenetetrahydrofolate dehydrogenase (NADP+) / methenyltetrahydrofolate cyclohydrolase / formyltetrahydrofolate synthetase [EC:1.5.1.5 3.5.4.9 6.3.4.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00670  One carbon pool by folate
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Module
hsa_M00141  C1-unit interconversion, eukaryotes
Network
nt06037  Histidine metabolism
  Element
N01726  Folate cycle
Disease
H00262  Neural tube defects, folate-sensitive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    4522 (MTHFD1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    4522 (MTHFD1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.5  Acting on the CH-NH group of donors
   1.5.1  With NAD+ or NADP+ as acceptor
    1.5.1.5  methylenetetrahydrofolate dehydrogenase (NADP+)
     4522 (MTHFD1)
 3. Hydrolases
  3.5  Acting on carbon-nitrogen bonds, other than peptide bonds
   3.5.4  In cyclic amidines
    3.5.4.9  methenyltetrahydrofolate cyclohydrolase
     4522 (MTHFD1)
 6. Ligases
  6.3  Forming carbon-nitrogen bonds
   6.3.4  Other carbon-nitrogen ligases
    6.3.4.3  formate---tetrahydrofolate ligase
     4522 (MTHFD1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   4522 (MTHFD1)
SSDB
Motif
Pfam: FTHFS THF_DHG_CYH_C THF_DHG_CYH OCD_Mu_crystall
Other DBs
NCBI-GeneID: 4522
NCBI-ProteinID: NP_005947
OMIM: 172460
HGNC: 7432
Ensembl: ENSG00000100714
UniProt: P11586
Structure
Position
14:64388353..64460025
AA seq 935 aa
MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAA
EEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAP
EKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAP
MHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKP
GKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSAL
ERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGI
KGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRF
LRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPV
SAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVG
PEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAF
DAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIE
LLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFL
YPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF
NT seq 2808 nt   +upstreamnt  +downstreamnt
atggcgccagcagaaatcctgaacgggaaggagatctccgcgcaaataagggcgagactg
aaaaatcaagtcactcagttgaaggagcaagtacctggtttcacaccacgcctggcaata
ttacaggttggcaacagagatgattccaatctttatataaatgtgaagctgaaggctgct
gaagagattgggatcaaagccactcacattaagttaccaagaacaaccacagaatctgag
gtgatgaagtacattacatctttgaatgaagactctactgtacatgggttcttagtgcag
ctacctttagattcagagaattccattaacactgaagaagtgatcaatgctattgcaccc
gagaaggatgtggatggattgactagcatcaatgctgggaaacttgctagaggtgacctc
aatgactgtttcattccttgtacgcctaagggatgcttggaactcatcaaagagacaggg
gtgccgattgccggaaggcatgctgtggtggttgggcgcagtaaaatagttggggccccg
atgcatgacttgcttctgtggaacaatgccacagtgaccacctgccactccaagactgcc
catctggatgaggaggtaaataaaggtgacatcctggtggttgcaactggtcagcctgaa
atggttaaaggggagtggatcaaacctggggcaatagtcatcgactgtggaatcaattat
gtcccagatgataaaaaaccaaatgggagaaaagttgtgggtgatgtggcatacgacgag
gccaaagagagggcgagcttcatcactcctgttcctggcggcgtagggcccatgacagtt
gcaatgctcatgcagagcacagtagagagtgccaagcgtttcctggagaaatttaagcca
ggaaagtggatgattcagtataacaaccttaacctcaagacacctgttccaagtgacatt
gatatatcacgatcttgtaaaccgaagcccattggtaagctggctcgagaaattggtctg
ctgtctgaagaggtagaattatatggtgaaacaaaggccaaagttctgctgtcagcacta
gaacgcctgaagcaccggcctgatgggaaatacgtggtggtgactggaataactccaaca
cccctgggagaagggaaaagcacaactacaatcgggctagtgcaagcccttggtgcccat
ctctaccagaatgtctttgcgtgtgtgcgacagccttctcagggccccacctttggaata
aaaggtggcgctgcaggaggcggctactcccaggtcattcctatggaagagtttaatctc
cacctcacaggtgacatccatgccatcactgcagctaataacctcgttgctgcggccatt
gatgctcggatatttcatgaactgacccagacagacaaggctctctttaatcgtttggtg
ccatcagtaaatggagtgagaaggttctctgacatccaaatccgaaggttaaagagacta
ggcattgaaaagactgaccctaccacactgacagatgaagagataaacagatttgcaaga
ttggacattgatccagaaaccataacttggcaaagagtgttggataccaatgatagattc
ctgaggaagatcacgattggacaggctccaacggagaagggtcacacacggacggcccag
tttgatatctctgtggccagtgaaattatggctgtcctggctctcaccacttctctagaa
gacatgagagagagactgggcaaaatggtggtggcatccagtaagaaaggagagcccgtc
agtgccgaagatctgggggtgagtggtgcactgacagtgcttatgaaggacgcaatcaag
cccaatctcatgcagacactggagggcactccagtgtttgtccatgctggcccgtttgcc
aacatcgcacatggcaattcctccatcattgcagaccggatcgcactcaagcttgttggc
ccagaagggtttgtagtgacggaagcaggatttggagcagacattggaatggaaaagttt
tttaacatcaaatgccggtattccggcctctgcccccacgtggtggtgcttgttgccact
gtcagggctctcaagatgcacgggggcggccccacggtcactgctggactgcctcttccc
aaggcttacatacaggagaacctggagctggttgaaaaaggcttcagtaacttgaagaaa
caaattgaaaatgccagaatgtttggaattccagtagtagtggccgtgaatgcattcaag
acggatacagagtctgagctggacctcatcagccgcctttccagagaacatggggctttt
gatgccgtgaagtgcactcactgggcagaagggggcaagggtgccttagccctggctcag
gccgtccagagagcagcacaagcacccagcagcttccagctcctttatgacctcaagctc
ccagttgaggataaaatcaggatcattgcacagaagatctatggagcagatgacattgaa
ttacttcccgaagctcaacacaaagctgaagtctacacgaagcagggctttgggaatctc
cccatctgcatggctaaaacacacttgtctttgtctcacaacccagagcaaaaaggtgtc
cctacaggcttcattctgcccattcgcgacatccgcgccagcgttggggctggttttctg
taccccttagtaggaacgatgagcacaatgcctggactccccacccggccctgtttttat
gatattgatttggaccctgaaacagaacaggtgaatggattattctaa

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