KEGG   Homo sapiens (human): 4524Help
Entry
4524              CDS       T01001                                 

Gene name
MTHFR
Definition
(RefSeq) methylenetetrahydrofolate reductase
  KO
K00297  
methylenetetrahydrofolate reductase (NADPH) [EC:1.5.1.20]
Organism
hsa  Homo sapiens (human)
Pathway
One carbon pool by folate
Metabolic pathways
Carbon metabolism
Antifolate resistance
Disease
H00183  
Homocystinuria
H00262  
Spina bifida
H00516  
Cleft lip and/or cleft palate
H01552  
Down syndrome
H01649  
Schizophrenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    4524 (MTHFR)
 Human Diseases
  Drug resistance
   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
    1.5.1.20  methylenetetrahydrofolate reductase [NAD(P)H]
     4524 (MTHFR)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P42898(Tbio)
UniProt: 
Position
1p36.22
AA seq 656 aa AA seqDB search
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWF
SLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC
GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVK
HIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIE
LAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREE
DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKM
WGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHL
VNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
EESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP
NT seq 1971 nt NT seq  +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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