Nans N-acetylneuraminic acid synthase (sialic acid synthase) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nansprovided by MGI
Official Full Name: N-acetylneuraminic acid synthase (sialic acid synthase)provided by MGI
Primary source: MGI:MGI:2149820
See related: Ensembl:ENSMUSG00000028334 AllianceGenome:MGI:2149820
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sas; 4632418E04Rik
Summary: Enables N-acylneuraminate-9-phosphate synthase activity. Involved in CMP-N-acetylneuraminate biosynthetic process and N-acetylneuraminate metabolic process. Is active in cytosol. Is expressed in several structures, including alimentary system; early conceptus; sensory organ; skeleton; and tarsus. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Genevieve-type. Orthologous to human NANS (N-acetylneuraminate synthase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in colon adult (RPKM 145.1), genital fat pad adult (RPKM 46.1) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B1; 4 24.83 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (46489319..46503439)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (46489329..46503438)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intracellular localization of this enzyme is regulated not only due to the nuclear localization signal but also two nuclear export signals.
Title: Identification of the nuclear export signals that regulate the intracellular localization of the mouse CMP-sialic acid synthetase.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nans (e-PCR), detects polymorphism
- UniSTS:546882

RH132906 (e-PCR)
- UniSTS:216189

Nans (e-PCR), detects polymorphism
- UniSTS:498305

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acylneuraminate-9-phosphate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acylneuraminate-9-phosphate synthase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CMP-N-acetylneuraminate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in CMP-N-acetylneuraminate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in N-acetylneuraminate biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in N-acetylneuraminate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sialic acid synthase

Names: N-acetylneuraminate-9-phosphate synthase; N-acetylneuraminic acid 9-phosphate synthetase; N-acetylneuraminic acid phosphate synthase

NP_001406232.1

EC 2.5.1.57

NP_001406233.1

EC 2.5.1.57

NP_001406234.1

EC 2.5.1.57

NP_444409.1

EC 2.5.1.57

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001419303.1 → NP_001406232.1 sialic acid synthase isoform 2

Status: VALIDATED

Source sequence(s)

AL683884

UniProtKB/TrEMBL

Q3TFB5
NM_001419304.1 → NP_001406233.1 sialic acid synthase isoform 3

Status: VALIDATED

Source sequence(s)

AL683884
NM_001419305.1 → NP_001406234.1 sialic acid synthase isoform 4

Status: VALIDATED

Source sequence(s)

AL683884
NM_053179.4 → NP_444409.1 sialic acid synthase isoform 1

See identical proteins and their annotated locations for NP_444409.1

Status: VALIDATED

Source sequence(s)

AL683884

Consensus CDS

CCDS18152.1

UniProtKB/Swiss-Prot

Q99J77, Q9JJH0

Related

ENSMUSP00000030018.5, ENSMUST00000030018.5

Conserved Domains (2) summary

cd11615
Location:292 → 348

SAF_NeuB_like; C-terminal SAF domain of sialic acid synthetase

pfam03102
Location:40 → 278

NeuB; NeuB family