KEGG T01001: 4522

Homo sapiens (human): 4522

Entry

4522 CDS T01001

Gene name

MTHFD1, MTHFC, MTHFD

Definition

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (EC:1.5.1.5 6.3.4.3 3.5.4.9)

Orthology

K00288

methylenetetrahydrofolate dehydrogenase (NADP+) / methenyltetrahydrofolate cyclohydrolase / formyltetrahydrofolate synthetase [EC:1.5.1.5 3.5.4.9 6.3.4.3]

Organism

hsa Homo sapiens (human)

Pathway

hsa00670	One carbon pool by folate
hsa01100	Metabolic pathways

Module

hsa_M00141

C1-unit interconversion, eukaryotes

Disease

H00262

Spina bifida

Class

Metabolism; Metabolism of cofactors and vitamins; One carbon pool by folate [PATH:hsa00670]

SSDB

Motif

Pfam:

FTHFS THF_DHG_CYH_C THF_DHG_CYH

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

1A4I 1DIA 1DIG 1DIB

Position

14q24

AA seq 935 aa
MAPAEILNGKEISAQIRARLKNQVTQLKEQVPGFTPRLAILQVGNRDDSNLYINVKLKAA
EEIGIKATHIKLPRTTTESEVMKYITSLNEDSTVHGFLVQLPLDSENSINTEEVINAIAP
EKDVDGLTSINAGKLARGDLNDCFIPCTPKGCLELIKETGVPIAGRHAVVVGRSKIVGAP
MHDLLLWNNATVTTCHSKTAHLDEEVNKGDILVVATGQPEMVKGEWIKPGAIVIDCGINY
VPDDKKPNGRKVVGDVAYDEAKERASFITPVPGGVGPMTVAMLMQSTVESAKRFLEKFKP
GKWMIQYNNLNLKTPVPSDIDISRSCKPKPIGKLAREIGLLSEEVELYGETKAKVLLSAL
ERLKHRPDGKYVVVTGITPTPLGEGKSTTTIGLVQALGAHLYQNVFACVRQPSQGPTFGI
KGGAAGGGYSQVIPMEEFNLHLTGDIHAITAANNLVAAAIDARIFHELTQTDKALFNRLV
PSVNGVRRFSDIQIRRLKRLGIEKTDPTTLTDEEINRFARLDIDPETITWQRVLDTNDRF
LRKITIGQAPTEKGHTRTAQFDISVASEIMAVLALTTSLEDMRERLGKMVVASSKKGEPV
SAEDLGVSGALTVLMKDAIKPNLMQTLEGTPVFVHAGPFANIAHGNSSIIADRIALKLVG
PEGFVVTEAGFGADIGMEKFFNIKCRYSGLCPHVVVLVATVRALKMHGGGPTVTAGLPLP
KAYIQENLELVEKGFSNLKKQIENARMFGIPVVVAVNAFKTDTESELDLISRLSREHGAF
DAVKCTHWAEGGKGALALAQAVQRAAQAPSSFQLLYDLKLPVEDKIRIIAQKIYGADDIE
LLPEAQHKAEVYTKQGFGNLPICMAKTHLSLSHNPEQKGVPTGFILPIRDIRASVGAGFL
YPLVGTMSTMPGLPTRPCFYDIDLDPETEQVNGLF

NT seq 2808 nt +upstreamnt +downstreamnt
atggcgccagcagaaatcctgaacgggaaggagatctccgcgcaaataagggcgagactg
aaaaatcaagtcactcagttgaaggagcaagtacctggtttcacaccacgcctggcaata
ttacaggttggcaacagagatgattccaatctttatataaatgtgaagctgaaggctgct
gaagagattgggatcaaagccactcacattaagttaccaagaacaaccacagaatctgag
gtgatgaagtacattacatctttgaatgaagactctactgtacatgggttcttagtgcag
ctacctttagattcagagaattccattaacactgaagaagtgatcaatgctattgcaccc
gagaaggatgtggatggattgactagcatcaatgctgggaaacttgctagaggtgacctc
aatgactgtttcattccttgtacgcctaagggatgcttggaactcatcaaagagacaggg
gtgccgattgccggaaggcatgctgtggtggttgggcgcagtaaaatagttggggccccg
atgcatgacttgcttctgtggaacaatgccacagtgaccacctgccactccaagactgcc
catctggatgaggaggtaaataaaggtgacatcctggtggttgcaactggtcagcctgaa
atggttaaaggggagtggatcaaacctggggcaatagtcatcgactgtggaatcaattat
gtcccagatgataaaaaaccaaatgggagaaaagttgtgggtgatgtggcatacgacgag
gccaaagagagggcgagcttcatcactcctgttcctggcggcgtagggcccatgacagtt
gcaatgctcatgcagagcacagtagagagtgccaagcgtttcctggagaaatttaagcca
ggaaagtggatgattcagtataacaaccttaacctcaagacacctgttccaagtgacatt
gatatatcacgatcttgtaaaccgaagcccattggtaagctggctcgagaaattggtctg
ctgtctgaagaggtagaattatatggtgaaacaaaggccaaagttctgctgtcagcacta
gaacgcctgaagcaccggcctgatgggaaatacgtggtggtgactggaataactccaaca
cccctgggagaagggaaaagcacaactacaatcgggctagtgcaagcccttggtgcccat
ctctaccagaatgtctttgcgtgtgtgcgacagccttctcagggccccacctttggaata
aaaggtggcgctgcaggaggcggctactcccaggtcattcctatggaagagtttaatctc
cacctcacaggtgacatccatgccatcactgcagctaataacctcgttgctgcggccatt
gatgctcggatatttcatgaactgacccagacagacaaggctctctttaatcgtttggtg
ccatcagtaaatggagtgagaaggttctctgacatccaaatccgaaggttaaagagacta
ggcattgaaaagactgaccctaccacactgacagatgaagagataaacagatttgcaaga
ttggacattgatccagaaaccataacttggcaaagagtgttggataccaatgatagattc
ctgaggaagatcacgattggacaggctccaacggagaagggtcacacacggacggcccag
tttgatatctctgtggccagtgaaattatggctgtcctggctctcaccacttctctagaa
gacatgagagagagactgggcaaaatggtggtggcatccagtaagaaaggagagcccgtc
agtgccgaagatctgggggtgagtggtgcactgacagtgcttatgaaggacgcaatcaag
cccaatctcatgcagacactggagggcactccagtgtttgtccatgctggcccgtttgcc
aacatcgcacatggcaattcctccatcattgcagaccggatcgcactcaagcttgttggc
ccagaagggtttgtagtgacggaagcaggatttggagcagacattggaatggaaaagttt
tttaacatcaaatgccggtattccggcctctgcccccacgtggtggtgcttgttgccact
gtcagggctctcaagatgcacgggggcggccccacggtcactgctggactgcctcttccc
aaggcttacatacaggagaacctggagctggttgaaaaaggcttcagtaacttgaagaaa
caaattgaaaatgccagaatgtttggaattccagtagtagtggccgtgaatgcattcaag
acggatacagagtctgagctggacctcatcagccgcctttccagagaacatggggctttt
gatgccgtgaagtgcactcactgggcagaagggggcaagggtgccttagccctggctcag
gccgtccagagagcagcacaagcacccagcagcttccagctcctttatgacctcaagctc
ccagttgaggataaaatcaggatcattgcacagaagatctatggagcagatgacattgaa
ttacttcccgaagctcaacacaaagctgaagtctacacgaagcagggctttgggaatctc
cccatctgcatggctaaaacacacttgtctttgtctcacaacccagagcaaaaaggtgtc
cctacaggcttcattctgcccattcgcgacatccgcgccagcgttggggctggttttctg
taccccttagtaggaacgatgagcacaatgcctggactccccacccggccctgtttttat
gatattgatttggaccctgaaacagaacaggtgaatggattattctaa

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (2)   
   KEGG MODULE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (12)   
   KEGG COMPOUND (12)   
Chemical reaction (6)   
   KEGG ENZYME (3)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (9)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (2)   
   RefSeq(pep) (1)   
DNA sequence (25)   
   RefSeq(nuc) (1)   
   GenBank (12)   
   EMBL (12)   
3D Structure (4)   
   PDB (4)   
Protein domain (3)   
   Pfam (3)   
All databases (78)   

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