Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.5.1.56
Transferases;
Transferring alkyl or aryl groups, other than methyl groups;
Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date);
N-acetylneuraminate synthase
2.5.1.57
Transferases;
Transferring alkyl or aryl groups, other than methyl groups;
Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date);
N-acylneuraminate-9-phosphate synthase
PDB | Resolution (Å) | PDB name |
---|---|---|
1WVO | Solution structure of RSGI RUH-029, an antifreeze protein like domain in human N-acetylneuraminic acid phosphate synthase gene. |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006055 | CMP-N-acetylneuraminate biosynthetic process |
Biological Process | GO:0016051 | carbohydrate biosynthetic process |
Biological Process | GO:0070085 | glycosylation |
Molecular Function | GO:0050462 | N-acetylneuraminate synthase activity |
Molecular Function | GO:0008781 | N-acylneuraminate cytidylyltransferase activity |
Molecular Function | GO:0047444 | N-acylneuraminate-9-phosphate synthase activity |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0070062 | extracellular exosome |
InterPro | InterPro name |
---|---|
IPR006013 | Antifreeze, type III |
IPR006190 | Antifreeze-like/N-acetylneuraminic acid synthase C-terminal |
IPR013132 | N-acetylneuraminic acid synthase, N-terminal |
IPR013785 | Aldolase-type TIM barrel |
IPR013974 | SAF domain |
IPR036732 | Antifreeze-like/N-acetylneuraminic acid synthase C-terminal domain superfamily |
Pfam | Pfam name |
---|---|
PF03102 | NeuB family |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-4085001 | Sialic acid metabolism | Leaf | R-HSA-392499 | Metabolism of proteins |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000179 | Thick lower lip vermilion |
HP:0000248 | Brachycephaly |
HP:0000252 | Microcephaly |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
HP:0000294 | Low anterior hairline |
HP:0000414 | Bulbous nose |
HP:0000445 | Wide nose |
HP:0000470 | Short neck |
HP:0000486 | Strabismus |
HP:0000639 | Nystagmus |
HP:0000664 | Synophrys |
HP:0000926 | Platyspondyly |
HP:0001007 | Hirsutism |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001270 | Motor delay |
HP:0001290 | Generalized hypotonia |
HP:0001388 | Joint laxity |
HP:0001498 | Carpal bone hypoplasia |
HP:0002059 | Cerebral atrophy |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002119 | Ventriculomegaly |
HP:0002162 | Low posterior hairline |
HP:0002651 | Spondyloepimetaphyseal dysplasia |
HP:0002868 | Narrow iliac wing |
HP:0003015 | Flared metaphysis |
HP:0003025 | Metaphyseal irregularity |
HP:0003085 | Long fibula |
HP:0003180 | Flat acetabular roof |
HP:0003301 | Irregular vertebral endplates |
HP:0004233 | Advanced ossification of carpal bones |
HP:0004322 | Short stature |
HP:0005121 | Posterior scalloping of vertebral bodies |
HP:0005280 | Depressed nasal bridge |
HP:0010582 | Irregular epiphyses |
HP:0010585 | Small epiphyses |
HP:0010864 | Intellectual disability, severe |
HP:0011220 | Prominent forehead |
HP:0012471 | Thick vermilion border |
HP:0012650 | Perisylvian polymicrogyria |
HP:0012697 | Small basal ganglia |
HP:0020206 | Simple ear |
HP:0031367 | Metaphyseal striations |
HP:0034295 | Reduced cerebral white matter volume |
HP:0100864 | Short femoral neck |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
spondyloepimetaphyseal dysplasia, genevieve type | MONDO:0012495 | Q77 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:610442 | Orphanet:168454 |