N-acetylneuraminate synthase

Summary
Gene Symbol
  • NANS
Organism
Homo sapiens (human)
External Links
NCBI Gene
54187
KEGG Gene ID
hsa:54187
PubChem
54187
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Direct protein sequencing
  • Disease variant
  • Dwarfism
  • Intellectual disability
  • Phosphoprotein
  • Reference proteome
  • Transferase
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NR45
  • N-acetylneuraminate synthase
  • N-acetylneuraminate-9-phosphate synthase
  • N-acetylneuraminic acid phosphate synthase
  • N-acetylneuraminic acid synthase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000095380

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K05304
Name
sialic acid synthase [EC:2.5.1.56 2.5.1.57 2.5.1.132]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 121 in total
DO ID Disease Name Source
DOID:0050425 restless legs syndrome
DOID:0050847 sleep apnea
DOID:0050848 obstructive sleep apnea
DOID:0050865 tongue squamous cell carcinoma
DOID:0050908 myelodysplastic syndrome
DOID:0060123 connective tissue benign neoplasm
DOID:0060224 atrial fibrillation
DOID:0060731 congenital central hypoventilation syndrome
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0080302 mixed sleep apnea
The Human Phenotype Ontology
Displaying entries 1 - 10 of 46 in total
HPO ID HPO Term
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
Displaying 1 entry
Disease ID Disease Name
OMIM:610442
  • spondyloepimetaphyseal dysplasia, Genevieve type

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024