Homo sapiens (human): 100528021 Help Entry 100528021         CDS       T01001                                  Symbol ST20-MTHFS, MTHFS Name (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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  5-FTHF_cyc-lig Motif Other DBs NCBI-GeneID:  100528021 NCBI-ProteinID:  NP_001186689 HGNC:  44655 Ensembl:  ENSG00000259332 UniProt:  A0A0A6YYL1 LinkDB All DBs Position 15:complement(79843547..79923092) Genome browser AA seq 179 aa AA seqDB search MARSRLTATSVSQVQVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFIPRYR FQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTGGLDLIFMPGLGFDKHGN RLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQICLQVPVNENDMKVDEVLYEDSSTA NT seq 540 nt NT seq  +upstreamnt  +downstreamnt atggcgcgatctcggctcactgcaacctctgtctcccaggttcaggtgattgcccacagt gagtatcaaaagtccaaaagaatttccatctttctgagcatgcaagatgaaattgagaca gaagagatcatcaaggacattttccaacgaggcaaaatctgcttcatccctcggtaccgg ttccagagcaatcacatggatatggtgagaatagaatcaccagaggaaatttctttactt cccaaaacatcctggaatatccctcagcctggtgagggtgatgttcgggaggaggccttg tccacagggggacttgatctcatcttcatgccaggccttgggtttgacaaacatggcaac cgactggggaggggcaagggctactatgatgcctatctgaagcgctgtttgcagcatcag gaagtgaagccctacaccctggcgttggctttcaaagaacagatttgcctccaggtccca gtgaatgaaaacgacatgaaggtagatgaagtcctttacgaagactcgtcaacagcttaa

Homo sapiens (human): 10588 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT 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 LinkDB All DBs Position 15:complement(79843547..79897285) Genome browser AA seq 203 aa AA seqDB search MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQD EIETEEIIKDIFQRGKICFIPRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVR EEALSTGGLDLIFMPGLGFDKHGNRLGRGKGYYDAYLKRCLQHQEVKPYTLALAFKEQIC LQVPVNENDMKVDEVLYEDSSTA NT seq 612 nt NT seq  +upstreamnt  +downstreamnt atggcggcggcagcggtgagcagcgccaagcggagcctgcggggagagctgaagcagcgt ctgcgggcgatgagtgccgaggagcggctacgccagtcccgcgtactgagccagaaggtg attgcccacagtgagtatcaaaagtccaaaagaatttccatctttctgagcatgcaagat gaaattgagacagaagagatcatcaaggacattttccaacgaggcaaaatctgcttcatc cctcggtaccggttccagagcaatcacatggatatggtgagaatagaatcaccagaggaa atttctttacttcccaaaacatcctggaatatccctcagcctggtgagggtgatgttcgg gaggaggccttgtccacagggggacttgatctcatcttcatgccaggccttgggtttgac aaacatggcaaccgactggggaggggcaagggctactatgatgcctatctgaagcgctgt ttgcagcatcaggaagtgaagccctacaccctggcgttggctttcaaagaacagatttgc ctccaggtcccagtgaatgaaaacgacatgaaggtagatgaagtcctttacgaagactcg tcaacagcttaa

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