Homo sapiens (human): 10588
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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)
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GFIT
Motif
Pfam:
5-FTHF_cyc-lig
Motif
Other DBs
NCBI-GeneID:
10588
NCBI-ProteinID:
NP_006432
OMIM:
604197
HGNC:
7437
Ensembl:
ENSG00000136371
UniProt:
P49914
Structure
PDB
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All DBs
Position
15:complement(79843547..79897285)
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AA seq
203 aa
AA seq
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MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQD
EIETEEIIKDIFQRGKICFIPRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVR
EEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQIC
LQVPVNENDMKVDEVLYEDSSTA
NT seq
612 nt
NT seq
+upstream
nt +downstream
nt
atggcggcggcagcggtgagcagcgccaagcggagcctgcggggagagctgaagcagcgt
ctgcgggcgatgagtgccgaggagcggctacgccagtcccgcgtactgagccagaaggtg
attgcccacagtgagtatcaaaagtccaaaagaatttccatctttctgagcatgcaagat
gaaattgagacagaagagatcatcaaggacattttccaacgaggcaaaatctgcttcatc
cctcggtaccggttccagagcaatcacatggatatggtgagaatagaatcaccagaggaa
atttctttacttcccaaaacatcctggaatatccctcagcctggtgagggtgatgttcgg
gaggaggccttgtccacagggggacttgatctcatcttcatgccaggccttgggtttgac
aaacatggcaaccgactggggaggggcaagggctactatgatgcctatctgaagcgctgt
ttgcagcatcaggaagtgaagccctacaccctggcgttggctttcaaagaacagatttgc
ctccaggtcccagtgaatgaaaacgacatgaaggtagatgaagtcctttacgaagactcg
tcaacagcttaa
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integrated database retrieval system