KEGG   Homo sapiens (human): 10588
Entry
10588             CDS       T01001                                 
Symbol
MTHFS, HsT19268, NEDMEHM
Name
(RefSeq) methenyltetrahydrofolate synthetase
  KO
K01934  5-formyltetrahydrofolate cyclo-ligase [EC:6.3.3.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00670  One carbon pool by folate
hsa01100  Metabolic pathways
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    10588 (MTHFS)
Enzymes [BR:hsa01000]
 6. Ligases
  6.3  Forming carbon-nitrogen bonds
   6.3.3  Cyclo-ligases
    6.3.3.2  5-formyltetrahydrofolate cyclo-ligase
     10588 (MTHFS)
SSDB
Motif
Pfam: 5-FTHF_cyc-lig
Other DBs
NCBI-GeneID: 10588
NCBI-ProteinID: NP_006432
OMIM: 604197
HGNC: 7437
Ensembl: ENSG00000136371
UniProt: P49914
Structure
Position
15:complement(79843547..79897285)
AA seq 203 aa
MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQD
EIETEEIIKDIFQRGKICFIPRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVR
EEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQIC
LQVPVNENDMKVDEVLYEDSSTA
NT seq 612 nt   +upstreamnt  +downstreamnt
atggcggcggcagcggtgagcagcgccaagcggagcctgcggggagagctgaagcagcgt
ctgcgggcgatgagtgccgaggagcggctacgccagtcccgcgtactgagccagaaggtg
attgcccacagtgagtatcaaaagtccaaaagaatttccatctttctgagcatgcaagat
gaaattgagacagaagagatcatcaaggacattttccaacgaggcaaaatctgcttcatc
cctcggtaccggttccagagcaatcacatggatatggtgagaatagaatcaccagaggaa
atttctttacttcccaaaacatcctggaatatccctcagcctggtgagggtgatgttcgg
gaggaggccttgtccacagggggacttgatctcatcttcatgccaggccttgggtttgac
aaacatggcaaccgactggggaggggcaagggctactatgatgcctatctgaagcgctgt
ttgcagcatcaggaagtgaagccctacaccctggcgttggctttcaaagaacagatttgc
ctccaggtcccagtgaatgaaaacgacatgaaggtagatgaagtcctttacgaagactcg
tcaacagcttaa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (27)   
   RefSeq(nuc) (3)   
   GenBank (12)   
   EMBL (12)   
3D Structure (4)   
   PDB (4)   
Protein domain (1)   
   Pfam (1)   
All databases (63)   

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