Homo sapiens (human): 54187 Help Entry 54187             CDS       T01001                                  Symbol NANS, HEL-S-100, SAS, SEMDCG, SEMDG Name (RefSeq) N-acetylneuraminate synthase   KO K05304   sialic acid synthase [EC:2.5.1.56 2.5.1.57 2.5.1.132] Organism hsa  Homo sapiens (human) Pathway hsa00541   Biosynthesis of various nucleotide sugars hsa01100   Metabolic pathways hsa01250   Biosynthesis of nucleotide sugars Module hsa_M00955   CMP-Neu5Ac/Neu5Gc biosynthesis, animals, UDP-GlcNAc => CMP-Neu5Ac => CMP-Neu5Gc Disease H02187   Spondyloepimetaphyseal dysplasia Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09107 Glycan biosynthesis and metabolism    00541 Biosynthesis of various nucleotide sugars     54187 (NANS) Enzymes [BR:hsa01000]  2. Transferases   2.5  Transferring alkyl or aryl groups, other than methyl groups    2.5.1  Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date)     2.5.1.56  N-acetylneuraminate synthase      54187 (NANS)     2.5.1.57  N-acylneuraminate-9-phosphate synthase      54187 (NANS)     2.5.1.132  3-deoxy-D-glycero-D-galacto-nonulopyranosonate 9-phosphate synthase      54187 (NANS) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  NeuB SAF DUF2458 Motif Other DBs NCBI-GeneID:  54187 NCBI-ProteinID:  NP_061819 OMIM:  605202 HGNC:  19237 Ensembl:  ENSG00000095380 UniProt:  Q9NR45 Structure PDBPDBj LinkDB All DBs Position 9:98056732..98083077 Genome browser AA seq 359 aa AA seqDB search MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEF KFNRKALERPYTSKHSWGKTYGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVE FLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFC FLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHIT LDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVK IPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS NT seq 1080 nt NT seq  +upstreamnt  +downstreamnt atgccgctggagctggagctgtgtcccgggcgctgggtgggcgggcaacacccgtgcttc atcattgccgagatcggccagaaccaccagggcgacctggacgtagccaagcgcatgatc cgcatggccaaggagtgtggggctgattgtgctaagttccagaagagtgagctagaattc aagtttaatcggaaagccttggagaggccatacacctcgaagcattcctgggggaagacg tacggggagcacaaacgacatctggagttcagccatgaccagtacagggagctgcagagg tacgccgaggaggttgggatcttcttcactgcctctggcatggatgagatggcagttgaa ttcctgcatgaactgaatgttccatttttcaaagttggatctggagacactaataatttt ccttatctggaaaagacagccaaaaaaggtcgcccaatggtgatctccagtgggatgcag tcaatggacaccatgaagcaagtttatcagatcgtgaagcccctcaaccccaacttctgc ttcttgcagtgtaccagcgcatacccgctccagcctgaggacgtcaacctgcgggtcatc tcggaatatcagaagctctttcctgacattcccatagggtattctgggcatgaaacaggc atagcgatatctgtggccgcagtggctctgggggccaaggtgttggaacgtcacataact ttggacaagacctggaaggggagtgaccactcggcctcgctggagcctggagaactggcc gagctggtgcggtcagtgcgtcttgtggagcgtgccctgggctccccaaccaagcagctg ctgccctgtgagatggcctgcaatgagaagctgggcaagtctgtggtggccaaagtgaaa attccggaaggcaccattctaacaatggacatgctcaccgtgaaggtgggtgagcccaaa ggctatcctcctgaagacatctttaatctagtgggcaagaaggtcctggtcactgttgaa gaggatgacaccatcatggaagaattggtagataatcatggcaaaaaaatcaagtcttaa

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