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

Gene name
MTHFR
Definition
(RefSeq) methylenetetrahydrofolate reductase (NAD(P)H) (EC:1.5.1.20)
  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
Disease
H00183  
Homocystinuria
H00262  
Spina bifida
H00516  
Isolated orofacial clefts
H01552  
Down syndrome
H01649  
Schizophrenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Overview
   01200 Carbon metabolism
    4524 (MTHFR)
  Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    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-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1p36.3
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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