Gene

NANS

Species
Homo sapiens
Symbol
NANS
Name
N-acetylneuraminate synthase
Synonyms
  • epididymis secretory protein Li 100
  • HEL-S-100
Biotype
protein coding gene
Automated Description
Enables N-acylneuraminate-9-phosphate synthase activity. Involved in CMP-N-acetylneuraminate biosynthetic process; N-acetylneuraminate biosynthetic process; and glycosylation. Located in extracellular exosome. Implicated in spondyloepimetaphyseal dysplasia, Genevieve-type.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR42966
No data available
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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None
Other Sources
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            98.060M98.065M98.070M98.075M98.080M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            NANS molecule type
            Interactor gene
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              Genetic Interactions

              NANS role
              NANS genetic perturbation
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