KEGG   Homo sapiens (human): 4524
Entry
4524              CDS       T01001                                 
Symbol
MTHFR
Name
(RefSeq) methylenetetrahydrofolate reductase
  KO
K25004  methylenetetrahydrofolate reductase (NADPH) [EC:1.5.1.53]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00670  One carbon pool by folate
hsa01100  Metabolic pathways
hsa01523  Antifolate resistance
Disease
H00183  Homocystinuria
H00262  Neural tube defects, folate-sensitive
H01552  Down syndrome
H01649  Schizophrenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    4524 (MTHFR)
 09160 Human Diseases
  09176 Drug resistance: antineoplastic
   01523 Antifolate resistance
    4524 (MTHFR)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.5  Acting on the CH-NH group of donors
   1.5.1  With NAD+ or NADP+ as acceptor
    1.5.1.53  methylenetetrahydrofolate reductase (NADPH)
     4524 (MTHFR)
SSDB
Motif
Pfam: MTHFR
Other DBs
NCBI-GeneID: 4524
NCBI-ProteinID: NP_005948
OMIM: 607093
HGNC: 7436
Ensembl: ENSG00000177000
Pharos: P42898(Tbio)
UniProt: P42898 Q8IU67 Q59GJ6
Structure
LinkDB
Position
1:complement(11785723..11805964)
AA seq 656 aa
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWF
SLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC
GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVK
HIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIE
LAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREE
DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKM
WGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHL
VNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
EESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP
NT seq 1971 nt   +upstreamnt  +downstreamnt
atggtgaacgaagccagaggaaacagcagcctcaacccctgcttggagggcagtgccagc
agtggcagtgagagctccaaagatagttcgagatgttccaccccgggcctggaccccgag
cggcatgagagactccgggagaagatgaggcggcgattggaatctggtgacaagtggttc
tccctggaattcttccctcctcgaactgctgagggagctgtcaatctcatctcaaggttt
gaccggatggcagcaggtggccccctctacatagacgtgacctggcacccagcaggtgac
cctggctcagacaaggagacctcctccatgatgatcgccagcaccgccgtgaactactgt
ggcctggagaccatcctgcacatgacctgctgccgtcagcgcctggaggagatcacgggc
catctgcacaaagctaagcagctgggcctgaagaacatcatggcgctgcggggagaccca
ataggtgaccagtgggaagaggaggagggaggcttcaactacgcagtggacctggtgaag
cacatccgaagtgagtttggtgactactttgacatctgtgtggcaggttaccccaaaggc
caccccgaagcagggagctttgaggctgacctgaagcacttgaaggagaaggtgtctgcg
ggagccgatttcatcatcacgcagcttttctttgaggctgacacattcttccgctttgtg
aaggcatgcaccgacatgggcatcacttgccccatcgtccccgggatctttcccatccag
ggctaccactcccttcggcagcttgtgaagctgtccaagctggaggtgccacaggagatc
aaggacgtgattgagccaatcaaagacaacgatgctgccatccgcaactatggcatcgag
ctggccgtgagcctgtgccaggagcttctggccagtggcttggtgccaggcctccacttc
tacaccctcaaccgcgagatggctaccacagaggtgctgaagcgcctggggatgtggact
gaggaccccaggcgtcccctaccctgggctctcagcgcccaccccaagcgccgagaggaa
gatgtacgtcccatcttctgggcctccagaccaaagagttacatctaccgtacccaggag
tgggacgagttccctaacggccgctggggcaattcctcttcccctgcctttggggagctg
aaggactactacctcttctacctgaagagcaagtcccccaaggaggagctgctgaagatg
tggggggaggagctgaccagtgaagaaagtgtctttgaagtcttcgttctttacctctcg
ggagaaccaaaccggaatggtcacaaagtgacttgcctgccctggaacgatgagcccctg
gcggctgagaccagcctgctgaaggaggagctgctgcgggtgaaccgccagggcatcctc
accatcaactcacagcccaacatcaacgggaagccgtcctccgaccccatcgtgggctgg
ggccccagcgggggctatgtcttccagaaggcctacttagagtttttcacttcccgcgag
acagcggaagcacttctgcaagtgctgaagaagtacgagctccgggttaattaccacctt
gtcaatgtgaagggtgaaaacatcaccaatgcccctgaactgcagccgaatgctgtcact
tggggcatcttccctgggcgagagatcatccagcccaccgtagtggatcccgtcagcttc
atgttctggaaggacgaggcctttgccctgtggattgagcggtggggaaagctgtatgag
gaggagtccccgtcccgcaccatcatccagtacatccacgacaactacttcctggtcaac
ctggtggacaatgacttcccactggacaactgcctctggcaggtggtggaagacacattg
gagcttctcaacaggcccacccagaatgcgagagaaacggaggctccatga

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