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NANS - N-acetylneuraminate synthase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54187

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	Références	Source
enables N-acylneuraminate-9-phosphate synthase activity	IDA IDA: Inferred from direct assay	10749855	GOA

Biological Process GO Annotation	Evidence	Références	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.	Nom du produit	Accession	Pureté
HY-P70959	NANS Protein, Human (His)	AAH19315.1 (M1-S359)	≥ 80%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-19818A	NAN-190 hydrobromide	Antagonist	98.15%	Unkown
HY-124449	Afidopyropen	Modulator	98.64%	Unkown
HY-186215	Indazapyroxamet	Inhibitor	/	Unkown
HY-19818	NAN-190		/	Unkown
HY-N18292	Qinanone G		/	Unkown
HY-RS09025	NANS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20302	Nans Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26810	Nans Rat Pre-designed siRNA Set A	Pre-designed Set	/	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