Human Gene ENGASE (uc002jwv.4)
  Description: Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.
RefSeq Summary (NM_001042573): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr17:77,071,019-77,084,685 Size: 13,667 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr17:77,071,027-77,082,431 Size: 11,405 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:77,071,019-77,084,685)mRNA (may differ from genome)Protein (743 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ENASE_HUMAN
DESCRIPTION: RecName: Full=Cytosolic endo-beta-N-acetylglucosaminidase; Short=ENGase; EC=3.2.1.96;
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.
CATALYTIC ACTIVITY: 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.
SUBCELLULAR LOCATION: Cytoplasm, cytosol (By similarity).
TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in thymus and spleen.
SIMILARITY: Belongs to the glycosyl hydrolase 85 family.
SIMILARITY: Contains 1 BRCT domain.
SEQUENCE CAUTION: Sequence=AAH24213.2; Type=Frameshift; Positions=694;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ENGASE
Diseases sorted by gene-association score: congenital disorder of deglycosylation (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.40 RPKM in Spleen
Total median expression: 725.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1040.942254-0.462 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001357 - BRCT_dom
IPR005201 - Glyco_hydro_85

Pfam Domains:
PF03644 - Glycosyl hydrolase family 85

ModBase Predicted Comparative 3D Structure on Q8NFI3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0033925 mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity

Biological Process:
GO:0006457 protein folding
GO:0006517 protein deglycosylation
GO:0008152 metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK025518 - Homo sapiens cDNA: FLJ21865 fis, clone HEP02351.
AK301115 - Homo sapiens cDNA FLJ57613 complete cds, highly similar to Homo sapiens endo-beta-N-acetylglucosaminidase, mRNA.
BC156537 - Synthetic construct Homo sapiens clone IMAGE:100063240, MGC:190720 endo-beta-N-acetylglucosaminidase (FLJ21865) mRNA, encodes complete protein.
AF512564 - Homo sapiens endo-beta-N-acetylglucosaminidase mRNA, complete cds.
AL110283 - Homo sapiens mRNA; cDNA DKFZp434P174 (from clone DKFZp434P174).
BC024213 - Homo sapiens endo-beta-N-acetylglucosaminidase, mRNA (cDNA clone IMAGE:3543906), partial cds.
BC042158 - Homo sapiens, clone IMAGE:4303285, mRNA.
DQ576470 - Homo sapiens piRNA piR-44582, complete sequence.
JD080396 - Sequence 61420 from Patent EP1572962.
JD162676 - Sequence 143700 from Patent EP1572962.
JD515731 - Sequence 496755 from Patent EP1572962.
JD389323 - Sequence 370347 from Patent EP1572962.
JD153557 - Sequence 134581 from Patent EP1572962.
JD500472 - Sequence 481496 from Patent EP1572962.
JD115112 - Sequence 96136 from Patent EP1572962.
JD318215 - Sequence 299239 from Patent EP1572962.
JD547521 - Sequence 528545 from Patent EP1572962.
JD164775 - Sequence 145799 from Patent EP1572962.
JD075886 - Sequence 56910 from Patent EP1572962.
JD187622 - Sequence 168646 from Patent EP1572962.
JD135048 - Sequence 116072 from Patent EP1572962.
JD194367 - Sequence 175391 from Patent EP1572962.
JD086554 - Sequence 67578 from Patent EP1572962.
JD475416 - Sequence 456440 from Patent EP1572962.
JD375843 - Sequence 356867 from Patent EP1572962.
JD260332 - Sequence 241356 from Patent EP1572962.
JD154731 - Sequence 135755 from Patent EP1572962.
JD377934 - Sequence 358958 from Patent EP1572962.
JD277536 - Sequence 258560 from Patent EP1572962.
JD482441 - Sequence 463465 from Patent EP1572962.
JD235985 - Sequence 217009 from Patent EP1572962.
JD380884 - Sequence 361908 from Patent EP1572962.
JD373283 - Sequence 354307 from Patent EP1572962.
JD472218 - Sequence 453242 from Patent EP1572962.
JD519532 - Sequence 500556 from Patent EP1572962.
JD272285 - Sequence 253309 from Patent EP1572962.
JD483902 - Sequence 464926 from Patent EP1572962.
JD174787 - Sequence 155811 from Patent EP1572962.
JD061077 - Sequence 42101 from Patent EP1572962.
JD161444 - Sequence 142468 from Patent EP1572962.
JD272551 - Sequence 253575 from Patent EP1572962.
JD174786 - Sequence 155810 from Patent EP1572962.
JD161443 - Sequence 142467 from Patent EP1572962.
JD216024 - Sequence 197048 from Patent EP1572962.
JD378851 - Sequence 359875 from Patent EP1572962.
JD559847 - Sequence 540871 from Patent EP1572962.
JD047992 - Sequence 29016 from Patent EP1572962.
JD395161 - Sequence 376185 from Patent EP1572962.
JD433839 - Sequence 414863 from Patent EP1572962.
JD390747 - Sequence 371771 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00511 - Other glycan degradation

Reactome (by CSHL, EBI, and GO)

Protein Q8NFI3 (Reactome details) participates in the following event(s):

R-HSA-8853379 ENGASE hydrolyses unfolded protein:(GlcNAc)2 (Man(9-5)
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENASE_HUMAN, NM_001042573, NP_001036038, Q659F0, Q8NFI3, Q8TB86, Q9H6U4, uc002jwv.3
UCSC ID: uc002jwv.4
RefSeq Accession: NM_001042573
Protein: Q8NFI3 (aka ENASE_HUMAN)
CCDS: CCDS42394.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001042573.2
exon count: 14CDS single in 3' UTR: no RNA size: 4494
ORF size: 2232CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4605.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.