NANS (N-acetylneuraminate synthase)

2003-02-01  

Identity

HGNC
NANS
LOCATION
9q22.33
LOCUSID
54187
ALIAS
HEL-S-100,SAS,SEMDCG,SEMDG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54187
MIM: 605202
HGNC: 19237
Ensembl: ENSG00000095380

Variants:

dbSNP: 54187
ClinVar: 54187
TCGA: ENSG00000095380
COSMIC: NANS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095380ENST00000210444Q9NR45
ENSG00000095380ENST00000415280Q5TBR1
ENSG00000095380ENST00000427646Q5TBR0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380000332023Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation.0
380000332023Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation.0
272132892016NANS-mediated synthesis of sialic acid is required for brain and skeletal development.75
272132892016NANS-mediated synthesis of sialic acid is required for brain and skeletal development.75
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
165978202006Solution structure of the antifreeze-like domain of human sialic acid synthase.6
165978202006Solution structure of the antifreeze-like domain of human sialic acid synthase.6
162746642005Cloning, expression, and characterization of sialic acid synthases.11
162746642005Cloning, expression, and characterization of sialic acid synthases.11

Citation

Dessen P

NANS (N-acetylneuraminate synthase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41493