nansb

ID

ZDB-GENE-041114-125

Name

N-acetylneuraminic acid synthase b

Symbol

nansb Nomenclature History

Previous Names

zgc:101549 (1)

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable N-acylneuraminate-9-phosphate synthase activity. Predicted to be involved in glycosylation. Predicted to act upstream of or within carbohydrate biosynthetic process. Predicted to be located in extracellular region. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Genevieve-type. Orthologous to human NANS (N-acetylneuraminate synthase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Zhang et al., 2017

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nansb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
spondyloepimetaphyseal dysplasia, Genevieve-type	Alliance	Spondyloepimetaphyseal dysplasia, Genevieve type	610442

Associated With nansb Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR006190	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal
Domain	IPR013132	N-acetylneuraminic acid synthase, N-terminal
Domain	IPR013974	SAF domain
Family	IPR051690	Nonulosonic Acid Synthase
Homologous_superfamily	IPR013785	Aldolase-type TIM barrel
Homologous_superfamily	IPR036732	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal domain superfamily