Neu4 sialidase 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Neu4provided by MGI
Official Full Name: sialidase 4provided by MGI
Primary source: MGI:MGI:2661364
See related: Ensembl:ENSMUSG00000034000 AllianceGenome:MGI:2661364
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: 9330166I04
Summary: Enables exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity. Involved in ganglioside catabolic process; glycoprotein catabolic process; and negative regulation of neuron projection development. Located in neuron projection and plasma membrane. Is expressed in brain. Orthologous to human NEU4 (neuraminidase 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 1.5), frontal lobe adult (RPKM 1.4) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 47.46 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (93948215..93956056)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (94020493..94028334)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Sialidase neu4 deficiency is associated with neuroinflammation in mice.
Title: Sialidase neu4 deficiency is associated with neuroinflammation in mice.
Absence of Neu3 and Neu4 leads to defects in cell adhesion and differentiation of epithelial cells resulting in aberrant tubular offshoots that fail to remain connected with the main duct and male infertility. Hence Neu3 and Neu 4 play an essential role in the guidance of epithelial cells during early embryonic formation.
Title: Presence of aberrant epididymal tubules revealing undifferentiated epithelial cells and absence of spermatozoa in a combined neuraminidase-3 and -4 deficient adult mouse model.
These results provide the first in vivo evidence that neuraminidases 3 and 4 have important roles in CNS function by catabolizing gangliosides and preventing their storage in lipofuscin bodies.
Title: Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.
NEU4 is involved in regulation of neuronal function by polySia degradation in mammals.
Title: Sialidase NEU4 hydrolyzes polysialic acids of neural cell adhesion molecules and negatively regulates neurite formation by hippocampal neurons.
Neu4 is not the only sialidase contributing to the metabolic bypass in Hexa(-/-) mice.
Title: Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.
mouse Neu4 plays an important regulatory role in neurite formation, possibly through desialylation of glycoproteins
Title: Developmental change of sialidase neu4 expression in murine brain and its involvement in the regulation of neuronal cell differentiation.
Neu4 is a functional component of the ganglioside-metabolizing system, contributing to the postnatal development of the brain and other vital organs.
Title: Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 1 citation

General gene information

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Markers

Neu4 (e-PCR), detects polymorphism
- UniSTS:508015

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables exo-alpha-(2->3)-sialidase activity	IDA Inferred from Direct Assay more info	PubMed
enables exo-alpha-(2->3)-sialidase activity	ISO Inferred from Sequence Orthology more info
enables exo-alpha-(2->6)-sialidase activity	IEA Inferred from Electronic Annotation more info
enables exo-alpha-(2->8)-sialidase activity	IDA Inferred from Direct Assay more info	PubMed
enables exo-alpha-(2->8)-sialidase activity	ISO Inferred from Sequence Orthology more info
enables exo-alpha-sialidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables exo-alpha-sialidase activity	IDA Inferred from Direct Assay more info	PubMed
enables exo-alpha-sialidase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in ganglioside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ganglioside catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ganglioside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in glycoprotein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycoprotein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in oligosaccharide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in organelle inner membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sialidase-4

Names: N-acetyl-alpha-neuraminidase 4; neuraminidase 4

NP_001297698.1

EC 3.2.1.18

NP_776133.1

EC 3.2.1.18

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_001310769.1 → NP_001297698.1 sialidase-4 isoform 1

See identical proteins and their annotated locations for NP_001297698.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB510404, BC070438, CB521925

Consensus CDS

CCDS78660.1

UniProtKB/TrEMBL

C5NTX9

Related

ENSMUSP00000140127.2, ENSMUST00000190212.7

Conserved Domains (1) summary

cd15482
Location:33 → 473

Sialidase_non-viral; Non-viral sialidases
NM_173772.3 → NP_776133.1 sialidase-4 isoform 2

See identical proteins and their annotated locations for NP_776133.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, which causes translation initiation at a downstream AUG. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

BC070438

Consensus CDS

CCDS15199.1

UniProtKB/Swiss-Prot

Q6NS66, Q8BZL1

Related

ENSMUSP00000051151.7, ENSMUST00000050890.8

Conserved Domains (1) summary

cd15482
Location:10 → 450

Sialidase_non-viral; Non-viral sialidases