KEGG   Homo sapiens (human): 54187
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
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa01100  Metabolic pathways
hsa01250  Biosynthesis of nucleotide sugars
Disease
H02187  Spondyloepimetaphyseal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00520 Amino sugar and nucleotide sugar metabolism
    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)
SSDB
Motif
Pfam: NeuB SAF
Other DBs
NCBI-GeneID: 54187
NCBI-ProteinID: NP_061819
OMIM: 605202
HGNC: 19237
Ensembl: ENSG00000095380
UniProt: Q9NR45
Structure
Position
9:98056732..98083077
AA seq 359 aa
MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEF
KFNRKALERPYTSKHSWGKTYGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVE
FLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFC
FLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHIT
LDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVK
IPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS
NT seq 1080 nt   +upstreamnt  +downstreamnt
atgccgctggagctggagctgtgtcccgggcgctgggtgggcgggcaacacccgtgcttc
atcattgccgagatcggccagaaccaccagggcgacctggacgtagccaagcgcatgatc
cgcatggccaaggagtgtggggctgattgtgctaagttccagaagagtgagctagaattc
aagtttaatcggaaagccttggagaggccatacacctcgaagcattcctgggggaagacg
tacggggagcacaaacgacatctggagttcagccatgaccagtacagggagctgcagagg
tacgccgaggaggttgggatcttcttcactgcctctggcatggatgagatggcagttgaa
ttcctgcatgaactgaatgttccatttttcaaagttggatctggagacactaataatttt
ccttatctggaaaagacagccaaaaaaggtcgcccaatggtgatctccagtgggatgcag
tcaatggacaccatgaagcaagtttatcagatcgtgaagcccctcaaccccaacttctgc
ttcttgcagtgtaccagcgcatacccgctccagcctgaggacgtcaacctgcgggtcatc
tcggaatatcagaagctctttcctgacattcccatagggtattctgggcatgaaacaggc
atagcgatatctgtggccgcagtggctctgggggccaaggtgttggaacgtcacataact
ttggacaagacctggaaggggagtgaccactcggcctcgctggagcctggagaactggcc
gagctggtgcggtcagtgcgtcttgtggagcgtgccctgggctccccaaccaagcagctg
ctgccctgtgagatggcctgcaatgagaagctgggcaagtctgtggtggccaaagtgaaa
attccggaaggcaccattctaacaatggacatgctcaccgtgaaggtgggtgagcccaaa
ggctatcctcctgaagacatctttaatctagtgggcaagaaggtcctggtcactgttgaa
gaggatgacaccatcatggaagaattggtagataatcatggcaaaaaaatcaagtcttaa

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (7)   
   KEGG COMPOUND (7)   
Chemical reaction (5)   
   KEGG ENZYME (3)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (28)   
   RefSeq(nuc) (8)   
   GenBank (10)   
   EMBL (10)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (76)   

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