NANS N-acetylneuraminate synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NANSprovided by HGNC
Official Full Name: N-acetylneuraminate synthaseprovided by HGNC
Primary source: HGNC:HGNC:19237
See related: Ensembl:ENSG00000095380 MIM:605202
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAS; SEMDG; SEMDCG; HEL-S-100
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]
Expression: Broad expression in colon (RPKM 65.2), prostate (RPKM 43.3) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 9q22.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	9	NC_000009.12 (98056728..98083083)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (100818959..100845365)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NANS deficiency is associated with defect in brain and skeletal development.
Title: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
The structure of the C-terminal antifreeze-like domain of human sialic acid synthase was determined. The structure comprises one alpha- and two single-turn 3(10)-helices and two beta-strands, and is similar to those of the type III antifreeze proteins.
Title: Solution structure of the antifreeze-like domain of human sialic acid synthase.
sialic acid synthases kinetics and preliminary mutagenesis experiments reveal the importance of C-terminal antifreeze protein domain
Title: Cloning, expression, and characterization of sialic acid synthases.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spondyloepimetaphyseal dysplasia Genevieve type MedGen: C1864872 OMIM: 610442 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-148909 (e-PCR)
- UniSTS:173069

STS-N37069 (e-PCR)
- UniSTS:29582

D16S325 (e-PCR)
- UniSTS:147089

A008O24 (e-PCR)
- UniSTS:60640

Homology

Homologs of the NANS gene: The NANS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 261 organisms have orthologs with human gene NANS
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
N-acetylneuraminate synthase activity	IEA Inferred from Electronic Annotation more info
N-acylneuraminate cytidylyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
N-acylneuraminate-9-phosphate synthase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
CMP-N-acetylneuraminate biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
carbohydrate biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	NAS Non-traceable Author Statement more info	PubMed
cytosol	TAS Traceable Author Statement more info
extracellular exosome	HDA more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: sialic acid synthase

Names: N-acetylneuraminate-9-phosphate synthase; N-acetylneuraminic acid phosphate synthase; N-acetylneuraminic acid synthase; epididymis secretory protein Li 100; sialic acid phosphate synthase

NP_061819.2

EC 2.5.1.56

EC 2.5.1.57

XP_011517089.1

EC 2.5.1.56

EC 2.5.1.57

XP_011517090.1

EC 2.5.1.56

EC 2.5.1.57

XP_016870300.1

EC 2.5.1.56

EC 2.5.1.57

XP_024303342.1

EC 2.5.1.56

EC 2.5.1.57

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

NG_052789.1 RefSeqGene

Range

5056..31401

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018946.4 → NP_061819.2 sialic acid synthase

See identical proteins and their annotated locations for NP_061819.2

Status: REVIEWED

Source sequence(s)

AK316608, BQ446501

Consensus CDS

CCDS6733.1

UniProtKB/Swiss-Prot

Q9NR45

Related

ENSP00000210444.5, ENST00000210444.6

Conserved Domains (1) summary

cl28263
Location:19 → 345

SpsE; Sialic acid synthase SpsE, contains C-terminal SAF domain [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p13 Primary Assembly

Range

98056728..98083083

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447574.1 → XP_024303342.1 sialic acid synthase isoform X1

Conserved Domains (1) summary

cl28263
Location:2 → 229

SpsE; Sialic acid synthase SpsE, contains C-terminal SAF domain [Cell wall/membrane/envelope biogenesis]
XM_011518787.2 → XP_011517089.1 sialic acid synthase isoform X1

See identical proteins and their annotated locations for XP_011517089.1

Conserved Domains (1) summary

cl28263
Location:2 → 229

SpsE; Sialic acid synthase SpsE, contains C-terminal SAF domain [Cell wall/membrane/envelope biogenesis]
XM_017014811.1 → XP_016870300.1 sialic acid synthase isoform X3

Conserved Domains (2) summary

cd11615
Location:151 → 209

SAF_NeuB_like; C-terminal SAF domain of sialic acid synthetase

cl17225
Location:9 → 137

DAHP_synth_1; DAHP synthetase I family
XM_011518788.2 → XP_011517090.1 sialic acid synthase isoform X2

Conserved Domains (2) summary

cd11615
Location:167 → 225

SAF_NeuB_like; C-terminal SAF domain of sialic acid synthetase

cl17225
Location:23 → 153

DAHP_synth_1; DAHP synthetase I family