NANS - N-acetylneuraminate synthase Gene

Homo sapiens

Also known as SAS; SEMDG; SEMDCG; HEL-S-100

Gene ID: 54187 | Gene type: protein coding

About NANS

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,056,732-98,083,077 (from NCBI)

This gene has 6 transcripts (splice variants), 260 orthologues and is associated with 3 phenotypes. Broad expression in colon (RPKM 65.2), prostate (RPKM 43.3) and 25 other tissues.

Summary

This gene encodes an Enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]

NANS Products(1)

mRNA	Protein	Name
NM_018946.4	NP_061819.2	sialic acid synthase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables N-acylneuraminate-9-phosphate synthase activity	IDA IDA: Inferred from direct assay	10749855	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in CMP-N-acetylneuraminate biosynthetic process	IMP IMP: Inferred from mutant phenotype	31121216	GOA
involved in N-acetylneuraminate biosynthetic process	IMP IMP: Inferred from mutant phenotype	31121216	GOA
involved in glycosylation	IMP IMP: Inferred from mutant phenotype	31121216	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NANS Protein Structure

NeuB

SAF

0
100
200
300
359 a.a.

Protein Preferred Names

Protein Names

sialic acid synthase

N-acetylneuraminate-9-phosphate synthase

Recombinant NANS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70959	NANS Protein, Human (His)	AAH19315.1 (M1-S359)	≥95%

Related Diseases

Diseases

Alias

Spondyloepimetaphyseal Dysplasia, Genevieve Type

SEMDG	Semd, Genevieve Type
Nans Deficiency	Semd Genevieve Type
Spondyloepimetaphyseal Dysplasia, Camera-Genevieve Type	Spondyloepimetaphyseal Dysplasia, Genevieve-Type
Spondyloepimetaphyseal Dysplasia Genevieve Type	Dysplasia, Spondyloepimetaphyseal, Camera-Genevieve Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I	Epileptic Encephalopathy, Early Infantile, 36
Congenital Disorder Of Glycosylation, Type Is	Cdg1s
Congenital Disorder Of Glycosylation, Type Ie	CDG1E
Congenital Disorder Of Glycosylation Type 1e	DEE36
Eiee36	Cdg Is
Cdgis	Congenital Disorder Of Glycosylation Ie
Congenital Disorder Of Glycosylation 1e	Cdg-Is
Congenital Disorder Of Glycosylation Type Is	Developmental And Epileptic Encephalopathy, 36
Cdg Ie	Cdgie
Early Infantile Epileptic Encephalopathy 36	Alg13-Cdg
Cdg Syndrome Type Is	Congenital Disorder Of Glycosylation Type 1s
Dpm1-Cdg	Cdg Syndrome Type Ie
Cdg-Ie	Carbohydrate Deficient Glycoprotein Syndrome Type Ie
Congenital Disorder Of Glycosylation Type Ie	Dol-P-Mannosyltransferase Deficiency
Congenital Disorder Of Glycosylation 1s	Glycosylation, Congenital Disorder Of, Type I
Glycosylation, Congenital Disorder Of, Type Ie	Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation, Type Iu

Adenoid Hypertrophy

Hypertrophy Of Adenoids	Adenoidal Hypertrophy
Enlarged Adenoids	Enlargement Of Adenoids
Adenoidal Enlargement	Adenoids, Hypertrophy
Hypertrophy Of Adenoids Alone	Adenoid Growth
Hyperplasia Of Adenoids	Hypertrophy Of Pharyngeal Tonsil

Developmental And Epileptic Encephalopathy 42

DEE42	Epileptic Encephalopathy, Early Infantile, 42
Eiee42	Developmental And Epileptic Encephalopathy, 42
Early Infantile Epileptic Encephalopathy 42	Encephalopathy, Epileptic, Early Infantile, Type 42

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Orofacial Cleft

Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-19818A	NAN-190 hydrobromide	Antagonist	99.11%	Unkown
HY-19818	NAN-190		/	Unkown
HY-RS09025	NANS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-124449	Afidopyropen	Modulator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NANS	VGNC	VGNC:43615
Mus musculus	NANS	MGD	MGI:2149820
Rattus norvegicus	NANS	RGD	RGD:1311943
Bos taurus	NANS	VGNC	VGNC:31878
Felis catus	NANS	VGNC	VGNC:102954
Others	NANS	NCBI

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