ENGASE endo-beta-N-acetylglucosaminidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENGASEprovided by HGNC
Official Full Name: endo-beta-N-acetylglucosaminidaseprovided by HGNC
Primary source: HGNC:HGNC:24622
See related: Ensembl:ENSG00000167280 MIM:611898
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in spleen (RPKM 23.3), duodenum (RPKM 12.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (79074812..79088599)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (77070906..77084681)

Chromosome 17 - NC_000017.11 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: 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?

In patients with autosomal dominant polycystic kidney disease, urinary NAGase was correlated with urinary ET-1 which was inversely associated with eGFR and positively correlated with total kidney volume.
Title: Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis.
Serological N-acetyl-glucosaminidase, telomere length, and the UCP2-886G>A variant are independent risk factors for type 2 diabetes.
Title: Telomere dysfunction-related serological markers are associated with type 2 diabetes.
As the generation of the bulk of fOS is unaffected by co-down regulation of Ngly1p and Engase1p, alternative quantitatively important mechanisms must underlie the liberation of these fOS from either LLO or glycoproteins during protein N-glycosylation.
Title: Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells.
O-GlcNAcase expression is increased in erythrocytes from both individuals with pre-diabetes and individuals with less well-controlled diabetes.
Title: Increased expression of beta-N-acetylglucosaminidase in erythrocytes from individuals with pre-diabetes and diabetes.
Data show that kinetic and X-ray crystallographic analyses of the binding modes with human/bacterial O-GlcNAcases identify some of these as competitive inhibitors.
Title: Screening-based discovery of drug-like O-GlcNAcase inhibitor scaffolds.
identification of O-GlcNAcase as a caspase-3 substrate with a novel caspase-3 cleavage site and provide insight about O-GlcNAcase regulation during apoptosis.
Title: Characterization of beta-N-acetylglucosaminidase cleavage by caspase-3 during apoptosis.
involved in processing of free oligosaccharides in the cytosol; identification of the gene encoding human cytosolic ENGase
Title: Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing of free oligosaccharides in the cytosol.
endo-beta-n-acetylglucosaminidase present in the synovial fluid of rheumatoid arthritis patients, may contribute to the depletion of glycosaminoglycans from cartilage allowing the invasion of synovial cells
Title: Synovial fluid exoglycosidases are predictors of rheumatoid arthritis and are effective in cartilage glycosaminoglycan depletion.

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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

RH45138 (e-PCR)
- UniSTS:52788

G59998 (e-PCR)
- UniSTS:137133

Homology

Homologs of the ENGASE gene: The ENGASE gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 331 organisms have orthologs with human gene ENGASE
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein deglycosylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cytosolic endo-beta-N-acetylglucosaminidase

Names: Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase; Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase

NP_001036038.1

EC 3.2.1.96

XP_006722080.1

EC 3.2.1.96

XP_006722081.1

EC 3.2.1.96

XP_006722082.1

EC 3.2.1.96

XP_016880450.1

EC 3.2.1.96

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_001042573.3 → NP_001036038.1 cytosolic endo-beta-N-acetylglucosaminidase

See identical proteins and their annotated locations for NP_001036038.1

Status: VALIDATED

Source sequence(s)

AC073624, AF512564, AK025518, HY070811

Consensus CDS

CCDS42394.1

UniProtKB/Swiss-Prot

Q8NFI3

Related

ENSP00000462333.1, ENST00000579016.6

Conserved Domains (1) summary

cd06547
Location:126 → 444

GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

79074812..79088599

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722019.3 → XP_006722082.1 cytosolic endo-beta-N-acetylglucosaminidase isoform X4

Conserved Domains (1) summary

cd06547
Location:126 → 382

GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...
XM_017024961.1 → XP_016880450.1 cytosolic endo-beta-N-acetylglucosaminidase isoform X1

Conserved Domains (1) summary

cd06547
Location:1 → 314

GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...
XM_006722017.3 → XP_006722080.1 cytosolic endo-beta-N-acetylglucosaminidase isoform X2

Conserved Domains (1) summary

cd06547
Location:3 → 258

GH85_ENGase; Endo-beta-N-acetylglucosaminidase (ENGase) hydrolyzes the N-N'-diacetylchitobiosyl core of N-glycosylproteins. The beta-1,4-glycosyl bond located between two N-acetylglucosamine residues is hydrolyzed such that N-acetylglucosamine 1 remains with the ...
XM_006722018.3 → XP_006722081.1 cytosolic endo-beta-N-acetylglucosaminidase isoform X3

Conserved Domains (1) summary

cl10447
Location:44 → 150

GH18_chitinase-like; The GH18 (glycosyl hydrolase, family 18) type II chitinases hydrolyze chitin, an abundant polymer of beta-1,4-linked N-acetylglucosamine (GlcNAc) which is a major component of the cell wall of fungi and the exoskeleton of arthropods. Chitinases have ...

RNA

XR_001752594.1 RNA Sequence

Related

ENST00000300682.14
XR_429920.1 RNA Sequence
XR_934534.1 RNA Sequence
XR_429918.1 RNA Sequence
XR_429919.1 RNA Sequence
XR_934535.1 RNA Sequence
XR_934536.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_022759.1: Suppressed sequence

Description

NM_022759.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.