NEU4 neuraminidase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEU4provided by HGNC
Official Full Name: neuraminidase 4provided by HGNC
Primary source: HGNC:HGNC:21328
See related: Ensembl:ENSG00000204099 MIM:608527; AllianceGenome:HGNC:21328
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
Summary: The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
Expression: Biased expression in colon (RPKM 9.5), liver (RPKM 4.5) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (241809193..241817413)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (242310986..242319206)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (242750288..242758739)

Chromosome 2 - NC_000002.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuraminidase 4 (NEU4): new biological and physiological player.
Title: Neuraminidase 4 (NEU4): new biological and physiological player.
Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.
Title: Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.
Synergistic activation of the NEU4 promoter by p73 and AP2 in colon cancer cells.
Title: Synergistic activation of the NEU4 promoter by p73 and AP2 in colon cancer cells.
The most potent compound tested targeted the human Neu4 isoenzyme, and was able to substantially reduce the rate of cell migration. We found that the lateral mobility of integrins was reduced by treatment of cells with Neu3, suggesting that Neu3 enzyme activity resulted in changes to integrin-co-receptor or integrin-cytoskeleton interactions
Title: Integrin-mediated cell migration is blocked by inhibitors of human neuraminidase.
The silencing or chemical inhibition of NEU4 changes the entire glycosylation pattern of proteins and lipids, making it more similar to that of differentiated GBM cells and drastically reduces GSCs survival.
Title: Sialidase NEU4 is involved in glioblastoma stem cell survival.
The results demonstrate that the proline-rich region can also enhance cell proliferation and retinoic acid (RA)-induced neuronal differentiation and it is also involved in NEU4 interaction with Akt.
Title: A proline-rich loop mediates specific functions of human sialidase NEU4 in SK-N-BE neuronal differentiation.
Overexpression of NEU4 is associated with neuroblastoma.
Title: NEU4L sialidase overexpression promotes β-catenin signaling in neuroblastoma cells, enhancing stem-like malignant cell growth.
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 plays an important role in control of sialyl Lewis antigen expression and its impairment in colon cancer
Title: Regulation of sialyl Lewis antigen expression in colon cancer cells by sialidase NEU4.
The NEU4 long form localizes in mitochondria, while the short form is also associated with the endoplasmic reticulum.
Title: Human sialidase NEU4 long and short are extrinsic proteins bound to outer mitochondrial membrane and the endoplasmic reticulum, respectively.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489642

G54568 (e-PCR)
- UniSTS:117706

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables exo-alpha-(2->3)-sialidase activity	IDA Inferred from Direct Assay more info	PubMed
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-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	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 glycoprotein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
NOT located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in organelle inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sialidase-4

Names: N-acetyl-alpha-neuraminidase 4; neuraminidase 4 (sialidase)

NP_001161071.1

EC 3.2.1.18

NP_001161072.1

EC 3.2.1.18

NP_001161073.1

EC 3.2.1.18

NP_001161074.1

EC 3.2.1.18

NP_542779.2

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_001167599.3 → NP_001161071.1 sialidase-4 isoform 2

See identical proteins and their annotated locations for NP_001161071.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate acceptor splice site at one of the coding exons compared to variant 1, resulting in an isoform (2) that is 1 aa longer than isoform 1.

Source sequence(s)

AC131097, AK091038, BC063465, DB173219

Consensus CDS

CCDS54441.1

UniProtKB/TrEMBL

A8K211, Q3KR05

Related

ENSP00000320318.6, ENST00000325935.10

Conserved Domains (1) summary

cd15482
Location:23 → 469

Sialidase_non-viral; Non-viral sialidases
NM_001167600.3 → NP_001161072.1 sialidase-4 isoform 3

See identical proteins and their annotated locations for NP_001161072.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (3, also known as NEU4 short) with a shorter N-terminus compared to isoform 1. Variants 3-5 encode the same isoform.

Source sequence(s)

AC131097, AK289421, BC063465

Consensus CDS

CCDS54442.1

UniProtKB/Swiss-Prot

A8K056, J3KNJ5, Q8WWR8, Q96D64

UniProtKB/TrEMBL

A8K211, B3KR54, Q3KR05

Related

ENSP00000385402.1, ENST00000407683.6

Conserved Domains (1) summary

cd15482
Location:10 → 456

Sialidase_non-viral; Non-viral sialidases
NM_001167601.3 → NP_001161073.1 sialidase-4 isoform 3

See identical proteins and their annotated locations for NP_001161073.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon at the 5' end and uses an alternate acceptor splice site at the next exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (3, also known as NEU4 short) with a shorter N-terminus compared to isoform 1. Variants 3-5 encode the same isoform.

Source sequence(s)

AC131097, AY203952, BC063465, DC412650

Consensus CDS

CCDS54442.1

UniProtKB/Swiss-Prot

A8K056, J3KNJ5, Q8WWR8, Q96D64

UniProtKB/TrEMBL

A8K211, B3KR54, Q3KR05

Related

ENSP00000384804.1, ENST00000405370.5

Conserved Domains (1) summary

cd15482
Location:10 → 456

Sialidase_non-viral; Non-viral sialidases
NM_001167602.3 → NP_001161074.1 sialidase-4 isoform 3

See identical proteins and their annotated locations for NP_001161074.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an additional exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (3, also known as NEU4 short) with a shorter N-terminus compared to isoform 1. Variants 3-5 encode the same isoform.

Source sequence(s)

AC131097, AK091038, BC063465

Consensus CDS

CCDS54442.1

UniProtKB/Swiss-Prot

A8K056, J3KNJ5, Q8WWR8, Q96D64

UniProtKB/TrEMBL

A8K211, B3KR54, Q3KR05

Related

ENSP00000375830.2, ENST00000391969.6

Conserved Domains (1) summary

cd15482
Location:10 → 456

Sialidase_non-viral; Non-viral sialidases
NM_080741.4 → NP_542779.2 sialidase-4 isoform 1

See identical proteins and their annotated locations for NP_542779.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1 (also known as NEU4 long).

Source sequence(s)

AC131097, BC063465, BC117214

Consensus CDS

CCDS2553.1

UniProtKB/TrEMBL

A8K211, Q3KR05

Related

ENSP00000385149.1, ENST00000404257.5

Conserved Domains (1) summary

cd15482
Location:22 → 468

Sialidase_non-viral; Non-viral sialidases