KEGG H.sapiens: 4522

Homo sapiens (human): 4522

Entry

4522 CDS H.sapiens

Gene name MTHFD1

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]

Pathway hsa00630 Glyoxylate and dicarboxylate metabolism
hsa00670 One carbon pool by folate
hsa01100 Metabolic pathways

Class Metabolism; Carbohydrate Metabolism; Glyoxylate and dicarboxylate
metabolism [PATH:hsa00630]
Metabolism; Metabolism of Cofactors and Vitamins; One carbon pool by
folate [PATH:hsa00670]

SSDB

Motif Pfam: FTHFS THF_DHG_CYH_C THF_DHG_CYH
PROSITE: FTHFS_2 THF_DHG_CYH_1 THF_DHG_CYH_2 FTHFS_1

Other DBs NCBI-GI: 222136639
NCBI-GeneID: 4522
OMIM: 172460
HGNC: 7432
HPRD: 01403
Ensembl: ENSG00000100714
UniProt: P11586

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

Pathway (3)   
   KEGG PATHWAY (3)   
Disease (1)   
   OMIM (1)   
Chemical reaction (4)   
   KEGG ENZYME (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (4)   
   NCBI-Gene (1)   
   NCBI-GI (3)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (1)   
   IPI (2)   
DNA sequence (5)   
   RefSeq(nuc) (1)   
   GenBank (2)   
   EMBL (2)   
3D Structure (4)   
   PDB (4)   
Protein domain (7)   
   Pfam (3)   
   PROSITE (4)   
All databases (41)

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