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 |