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

Gene ID: 64772, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:24622
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
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Genomic context

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See ENGASE in Genome Data Viewer
Location:
17q25.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (79074824..79088599)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79969760..79983540)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (77070906..77084681)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9078 Neighboring gene C1QTNF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77040047-77040547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 Neighboring gene calcium activated nucleotidase 1 Neighboring gene Sharpr-MPRA regulatory region 5335 Neighboring gene C1q and TNF related 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77094193-77094906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77099175-77100160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77112846-77113750 Neighboring gene RNA binding fox-1 homolog 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77157651-77158151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77173286-77173965 Neighboring gene uncharacterized LOC124904069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77179359-77180239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9080 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77188893-77189550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77198565-77199383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77207229-77207739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77219238-77219738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77219739-77220239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77223705-77224476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77362366-77362866 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:77369816-77369979 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:77397348-77397522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77400039-77400540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77403781-77404282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77404283-77404782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77409324-77409841 Neighboring gene Sharpr-MPRA regulatory region 4769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77505025-77505682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77528471-77529242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77529243-77530014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77544533-77545032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77645285-77645791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77655553-77656543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77657995-77658740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77665156-77666000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77669291-77669891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77673338-77673922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:77675499-77676019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:77680917-77681538 Neighboring gene microRNA 4739

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. N-acetyl-ß-D-glucosaminidase is predictive of mortality in chronic heart failure: a 10-year follow-up. Strack C, et al. Biomark Med, 2021 Sep. PMID 34397265
  2. The ENGases: versatile biocatalysts for the production of homogeneous N-linked glycopeptides and glycoproteins. Fairbanks AJ. Chem Soc Rev, 2017 Aug 14. PMID 28681051
  3. Screening-based discovery of drug-like O-GlcNAcase inhibitor scaffolds. Dorfmueller HC, et al. FEBS Lett, 2010 Feb 19. PMID 20026047, Free PMC Article
  4. Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease. Bi Y, et al. Bioorg Med Chem Lett, 2017 Jul 1. PMID 28512024, Free PMC Article
  5. The Amazing Transglycosylation Activity of Endo-β-N-acetylglucosaminidases. Wang LX. Trends Glycosci Glycotechnol, 2011. PMID 25309039, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. N-acetyl-ss-D-glucosaminidase is predictive of mortality in chronic heart failure: a 10-year follow-up.
    Title: N-acetyl-ß-D-glucosaminidase is predictive of mortality in chronic heart failure: a 10-year follow-up.
  2. Transcriptome-wide association study reveals two genes that influence mismatch negativity.
    Title: Transcriptome-wide association study reveals two genes that influence mismatch negativity.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21865, DKFZp434P174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in N-glycan processing IBA
Inferred from Biological aspect of Ancestor
more info
  
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
NP_001382981.1
NP_001382982.1
NP_001382983.1
NP_001382984.1
XP_006722081.1
XP_006722082.1
XP_047292504.1
XP_047292506.1
XP_047292507.1
XP_054172918.1
XP_054172919.1
XP_054172920.1
XP_054172921.1
XP_054172922.1

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)

  1. NM_001042573.3 → NP_001036038.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 4

    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
    Q659F0, Q8NFI3, Q8TB86, Q9H6U4
    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 ...

  2. NM_001396052.1 → NP_001382981.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC073624
    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 ...

  3. NM_001396053.1 → NP_001382982.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC073624
    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 ...

  4. NM_001396054.1 → NP_001382983.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC073624
    Conserved Domains (1) summary
    cd06547
    Location:126 → 507
    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 ...

  5. NM_001396055.1 → NP_001382984.1  cytosolic endo-beta-N-acetylglucosaminidase isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC073624
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    79074824..79088599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436548.1 → XP_047292504.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X1

  2. XM_047436551.1 → XP_047292507.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X3

  3. XM_006722019.4 → XP_006722082.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X5

    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 ...

  4. XM_047436550.1 → XP_047292506.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X2

  5. XM_006722018.4 → XP_006722081.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X4

    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

  1. XR_007065427.1 RNA Sequence

  2. XR_007065426.1 RNA Sequence

  3. XR_007065428.1 RNA Sequence

  4. XR_007065430.1 RNA Sequence

  5. XR_007065429.1 RNA Sequence

  6. XR_934534.2 RNA Sequence

  7. XR_429918.2 RNA Sequence

  8. XR_429919.2 RNA Sequence

  9. XR_934535.2 RNA Sequence

  10. XR_934536.2 RNA Sequence

  11. XR_007065431.1 RNA Sequence

    Related
    ENST00000300682.14

  12. XR_007065432.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79969760..79983540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316943.1 → XP_054172918.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X1

  2. XM_054316945.1 → XP_054172920.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X3

  3. XM_054316947.1 → XP_054172922.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X5

  4. XM_054316944.1 → XP_054172919.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X2

  5. XM_054316946.1 → XP_054172921.1  cytosolic endo-beta-N-acetylglucosaminidase isoform X4

RNA

  1. XR_008484919.1 RNA Sequence

  2. XR_008484918.1 RNA Sequence

  3. XR_008484920.1 RNA Sequence

  4. XR_008484922.1 RNA Sequence

  5. XR_008484921.1 RNA Sequence

  6. XR_008484924.1 RNA Sequence

  7. XR_008484923.1 RNA Sequence

  8. XR_008484925.1 RNA Sequence

  9. XR_008484927.1 RNA Sequence

  10. XR_008484926.1 RNA Sequence

  11. XR_008484928.1 RNA Sequence

  12. XR_008484929.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFI3.1 GenPept UniProtKB/Swiss-Prot:Q8NFI3

Gene LinkOut

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