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
hsa04981  Folate transport and metabolism
Module
hsa_M00141  C1-unit interconversion, eukaryotes
Network
nt06038  Folate metabolism
  Element
N01726  Folate cycle
Disease
H00262  Neural tube defects, folate-sensitive
H02761  Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    4522 (MTHFD1)
 09150 Organismal Systems
  09154 Digestive system
   04981 Folate transport and metabolism
    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
LinkDB
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

DBGET integrated database retrieval system