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
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Chemical substance (5)   
   KEGG COMPOUND (5)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
Protein sequence (16)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (40)   
   RefSeq(nuc) (12)   
   GenBank (14)   
   EMBL (14)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (100)   

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