KEGG   Homo sapiens (human): 100528021
Entry
100528021         CDS       T01001                                 

Gene name
ST20-MTHFS, MTHFS
Definition
(RefSeq) ST20-MTHFS readthrough
  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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00670 One carbon pool by folate
    100528021 (ST20-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
     100528021 (ST20-MTHFS)
SSDB
Motif
Pfam: 5-FTHF_cyc-lig
Other DBs
NCBI-GeneID: 100528021
NCBI-ProteinID: NP_001186689
HGNC: 44655
Ensembl: ENSG00000259332
Vega: OTTHUMG00000172077
UniProt: A0A0A6YYL1
LinkDB
Position
15q25.1
AA seq 179 aa
MARSRLTATSVSQVQVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFIPRYR
FQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTGGLDLIFMPGLGFDKHGN
RLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQICLQVPVNENDMKVDEVLYEDSSTA
NT seq 540 nt   +upstreamnt  +downstreamnt
atggcgcgatctcggctcactgcaacctctgtctcccaggttcaggtgattgcccacagt
gagtatcaaaagtccaaaagaatttccatctttctgagcatgcaagatgaaattgagaca
gaagagatcatcaaggacattttccaacgaggcaaaatctgcttcatccctcggtaccgg
ttccagagcaatcacatggatatggtgagaatagaatcaccagaggaaatttctttactt
cccaaaacatcctggaatatccctcagcctggtgagggtgatgttcgggaggaggccttg
tccacagggggacttgatctcatcttcatgccaggccttgggtttgacaaacatggcaac
cgactggggaggggcaagggctactatgatgcctatctgaagcgctgtttgcagcatcag
gaagtgaagccctacaccctggcgttggctttcaaagaacagatttgcctccaggtccca
gtgaatgaaaacgacatgaaggtagatgaagtcctttacgaagactcgtcaacagcttaa

KEGG   Homo sapiens (human): 10588
Entry
10588             CDS       T01001                                 

Gene name
MTHFS, HsT19268, NEDMEHM
Definition
(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
Vega: OTTHUMG00000144174
Pharos: P49914(Tbio)
UniProt: P49914
LinkDB
Structure
PDB: 
3HY3 3HXT 3HY6 3HY4

Position
15q25.1
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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