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
hsa00670  One carbon pool by folate
hsa01100  Metabolic pathways
hsa01200  Carbon metabolism
hsa01523  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]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    4524 (MTHFR)
 09160 Human Diseases
  09168 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: MTHFR
Motif
Other DBs
NCBI-GeneID: 4524
NCBI-ProteinID: NP_005948
OMIM: 607093
HGNC: 7436
Ensembl: ENSG00000177000
Vega: OTTHUMG00000002277
Pharos: P42898(Tbio)
UniProt: P42898 Q8IU67 Q59GJ6
Structure
PDB: 

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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