NANS
entrez
54187
canonical
uniprot
Q9NR45
canonical
ensembl
ENSG00000095380
resolver
ensp
ENSP00000210444
resolver
enst
ENST00000210444
resolver
genesymbol
NANS
resolver
genesymbol_syn
SAS
resolver
hgnc
HGNC:19237
resolver
uniprot
B2RE98
resolver
uniprot
Q8WUV9
resolver
uniprot
Q9BWS6
resolver
uniprot
Q9NVD4
resolver
uniprot_entry
SIAS_HUMAN
resolver
uniprot_sec
B2RE98
resolver
uniprot_sec
Q8WUV9
resolver
uniprot_sec
Q9BWS6
resolver
uniprot_sec
Q9NVD4
resolver
amino_acid_sequence
MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEFKFNRKALERPYTSKHSWGKTYGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS
uniprot
proteins
disease_involvement
DISEASE: Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]: An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones. {ECO:0000269|PubMed:27213289}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.132
uniprot
proteins
ec_number
2.5.1.57
uniprot
proteins
function
FUNCTION: Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phosphate (Man-6-P) to produce 3-deoxy-D-glycero-beta-D-galacto-non-2-ulopyranosonate 9-phosphate (KDN-9-P) (PubMed:10749855). Neu5Ac-9-P and KDN-9-P are the phosphorylated forms of sialic acids N-acetylneuraminic acid (Neu5Ac) and deaminoneuraminic acid (KDN), respectively (PubMed:10749855). Required for brain and skeletal development (PubMed:27213289). {ECO:0000269|PubMed:10749855, ECO:0000269|PubMed:27213289}.
uniprot
proteins
mass_dalton
40308
uniprot
proteins
pubmed
10749855
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16597820
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27213289
uniprot
proteins
sequence_length
359
uniprot
proteins