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] See more...

Aliases for ENGASE Gene

Aliases for ENGASE Gene

  • Endo-Beta-N-Acetylglucosaminidase 2 3 5
  • Mannosyl-Glycoprotein Endo-Beta-N-Acetylglucosaminidase 2 3
  • Di-N-Acetylchitobiosyl Beta-N-Acetylglucosaminidase 2 3
  • Cytosolic Endo-Beta-N-Acetylglucosaminidase 3 4
  • EC 3.2.1.96 4 54
  • ENGase 4

External Ids for ENGASE Gene

Previous GeneCards Identifiers for ENGASE Gene

  • GC17P074583
  • GC17P077071
  • GC17P072493

Summaries for ENGASE Gene

Entrez Gene Summary for ENGASE Gene

  • 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]

GeneCards Summary for ENGASE Gene

ENGASE (Endo-Beta-N-Acetylglucosaminidase) is a Protein Coding gene. Diseases associated with ENGASE include Congenital Disorder Of Deglycosylation. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot Summary for ENGASE Gene

  • Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol.

Additional gene information for ENGASE Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENGASE Gene

Genomics for ENGASE Gene

GeneHancer (GH) Regulatory Elements for ENGASE Gene

Promoters and enhancers for ENGASE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J079072 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 762.3 +3.0 2992 3.8 ZNF24 SP1 ZBTB6 RBPJ POLR2A TCF7L2 NFYC L3MBTL2 SREBF1 MNT ENGASE C1QTNF1 USP36 CANT1 piR-44582
GH17J078349 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.8 -715.7 -715658 11.9 SIN3A ZNF24 ZBTB40 SP1 CTCF SREBF1 FOXA1 ZBTB6 RBPJ SMARCE1 SOCS3 USP36 ENGASE PGS1 CANT1 LOC101928674 CYTH1 BIRC5 TMC6 TMC8
GH17J078120 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.6 -943.6 -943573 14.8 GTF3C2 ZNF24 SP1 ZBTB40 CTCF SREBF1 LCORL MLX RBPJ SMARCE1 TMC8 TMC6 lnc-TK1-4 USP36 BIRC5 ENGASE SYNGR2 TK1 AFMID CANT1
GH17J079918 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.9 +855.0 854951 15.5 CTCF LCORL MLX SMARCE1 RBPJ TCF7L2 NR2F1 NR2F6 RELA HLF LINC01979 EIF4A3 SGSH ENGASE RNF213 CANT1 TBC1D16 CBX2 LINC01978 lnc-CBX4-4
GH17J079984 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.1 +918.5 918470 11.2 ZNF785 CTCF ZBTB6 FOXA1 LCORL MLX RBPJ TCF7L2 CTBP1 USF2 CCDC40 EIF4A3 ENSG00000262768 ENGASE CBX2 TBC1D16 RNF213-AS1 ENDOV SGSH CANT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENGASE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENGASE gene promoter:
  • C/EBPalpha
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • MyoD
  • Sp1

Genomic Locations for ENGASE Gene

Genomic Locations for ENGASE Gene
chr17:79,071,523-79,088,603
(GRCh38/hg38)
Size:
17,081 bases
Orientation:
Plus strand
chr17:77,071,019-77,084,681
(GRCh37/hg19)
Size:
13,663 bases
Orientation:
Plus strand

Genomic View for ENGASE Gene

Genes around ENGASE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENGASE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENGASE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENGASE Gene

Proteins for ENGASE Gene

  • Protein details for ENGASE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFI3-ENASE_HUMAN
    Recommended name:
    Cytosolic endo-beta-N-acetylglucosaminidase
    Protein Accession:
    Q8NFI3
    Secondary Accessions:
    • Q659F0
    • Q8TB86
    • Q9H6U4

    Protein attributes for ENGASE Gene

    Size:
    743 amino acids
    Molecular mass:
    83987 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH24213.2; Type=Frameshift; Positions=694; Evidence={ECO:0000305};

    Alternative splice isoforms for ENGASE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENGASE Gene

Selected DME Specific Peptides for ENGASE Gene

Q8NFI3:
  • GTFITEW
  • FDGWLINIEN

Post-translational modifications for ENGASE Gene

  • Ubiquitination at Lys381
  • Modification sites at PhosphoSitePlus

Domains & Families for ENGASE Gene

Gene Families for ENGASE Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ENGASE Gene

Suggested Antigen Peptide Sequences for ENGASE Gene

GenScript: Design optimal peptide antigens:
  • Cytosolic endo-beta-N-acetylglucosaminidase (ENASE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NFI3

UniProtKB/Swiss-Prot:

ENASE_HUMAN :
  • Belongs to the glycosyl hydrolase 85 family.
Family:
  • Belongs to the glycosyl hydrolase 85 family.
genes like me logo Genes that share domains with ENGASE: view

Function for ENGASE Gene

Molecular function for ENGASE Gene

UniProtKB/Swiss-Prot Function:
Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Endohydrolysis of the N,N'-diacetylchitobiosyl unit in high-mannose glycopeptides and glycoproteins containing the -(Man(GlcNAc)(2))Asn-structure. One N-acetyl-D-glucosamine residue remains attached to the protein, the rest of the oligosaccharide is released intact.; EC=3.2.1.96;.

Enzyme Numbers (IUBMB) for ENGASE Gene

Phenotypes From GWAS Catalog for ENGASE Gene

Gene Ontology (GO) - Molecular Function for ENGASE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0033925 mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity TAS,IEA --
genes like me logo Genes that share ontologies with ENGASE: view
genes like me logo Genes that share phenotypes with ENGASE: view

Animal Models for ENGASE Gene

MGI Knock Outs for ENGASE:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ENGASE Gene

Localization for ENGASE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENGASE Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENGASE gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENGASE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ENGASE: view

Pathways & Interactions for ENGASE Gene

genes like me logo Genes that share pathways with ENGASE: view

Interacting Proteins for ENGASE Gene

Gene Ontology (GO) - Biological Process for ENGASE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0006517 protein deglycosylation IBA,IEA 21873635
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ENGASE: view

No data available for SIGNOR curated interactions for ENGASE Gene

Drugs & Compounds for ENGASE Gene

No Compound Related Data Available

Transcripts for ENGASE Gene

mRNA/cDNA for ENGASE Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENGASE Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ENGASE Gene

GeneLoc Exon Structure for
ENGASE
ECgene alternative splicing isoforms for
ENGASE

Expression for ENGASE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENGASE Gene

Protein differential expression in normal tissues from HIPED for ENGASE Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.8), Ovary (9.3), Retina (7.7), and Lymph node (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENGASE Gene



Protein tissue co-expression partners for ENGASE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ENGASE Gene:

ENGASE

SOURCE GeneReport for Unigene cluster for ENGASE Gene:

Hs.29288

mRNA Expression by UniProt/SwissProt for ENGASE Gene:

Q8NFI3-ENASE_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in thymus and spleen.

Evidence on tissue expression from TISSUES for ENGASE Gene

  • Liver(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with ENGASE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENGASE Gene

Orthologs for ENGASE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENGASE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENGASE 33 32
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENGASE 33 32
  • 82.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENGASE 33 32
  • 82.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Engase 17 33 32
  • 80.66 (n)
rat
(Rattus norvegicus)
Mammalia Engase 32
  • 79.53 (n)
oppossum
(Monodelphis domestica)
Mammalia ENGASE 33
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENGASE 33
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENGASE 33 32
  • 65.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENGASE 33
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia engase 32
  • 58.17 (n)
zebrafish
(Danio rerio)
Actinopterygii engase 33 32
  • 58.26 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5613 33
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea eng-1 33
  • 36 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G05460 32
  • 45.36 (n)
rice
(Oryza sativa)
Liliopsida Os05g0346500 32
  • 48.94 (n)
Os.7077 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 38 (a)
OneToOne
Species where no ortholog for ENGASE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENGASE Gene

ENSEMBL:
Gene Tree for ENGASE (if available)
TreeFam:
Gene Tree for ENGASE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENGASE: view image

Paralogs for ENGASE Gene

No data available for Paralogs for ENGASE Gene

Variants for ENGASE Gene

Sequence variations from dbSNP and Humsavar for ENGASE Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000197380 -- 79,075,982(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000225133 -- 79,081,369(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000225424 -- 79,078,570(+) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000448258 -- 79,089,088(+) G/A downstream_transcript_variant
rs1000728670 -- 79,088,904(+) T/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ENGASE Gene

Variant ID Type Subtype PubMed ID
esv23539 CNV loss 19812545
nsv1057193 CNV gain 25217958
nsv2157 CNV insertion 18451855
nsv470610 CNV loss 18288195
nsv470611 CNV gain 18288195
nsv523650 CNV loss 19592680
nsv524700 CNV loss 19592680
nsv527899 CNV loss 19592680
nsv576103 CNV loss 21841781
nsv828114 CNV gain 20364138
nsv833556 CNV loss 17160897
nsv952379 CNV deletion 24416366

Variation tolerance for ENGASE Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.04; 87.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENGASE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENGASE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENGASE Gene

Disorders for ENGASE Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENGASE Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital disorder of deglycosylation
  • cddg
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ENGASE

genes like me logo Genes that share disorders with ENGASE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENGASE Gene

Publications for ENGASE Gene

  1. Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing of free oligosaccharides in the cytosol. (PMID: 12114544) Suzuki T … Emori Y (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 56
  2. Characterization of beta-N-acetylglucosaminidase cleavage by caspase-3 during apoptosis. (PMID: 18586680) Butkinaree C … Hart GW (The Journal of biological chemistry 2008) 2 3 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. Relationship of urinary endothelin-1 with estimated glomerular filtration rate in autosomal dominant polycystic kidney disease: a pilot cross-sectional analysis. (PMID: 26923419) Raina R … Simonson M (BMC nephrology 2016) 3 56
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 56

Products for ENGASE Gene

Sources for ENGASE Gene