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Gene Gene information from NCBI Gene database.
Entrez ID 64772
Gene name Endo-beta-N-acetylglucosaminidase
Gene symbol ENGASE
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q25.3
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]
miRNA miRNA information provided by mirtarbase database.
99 Show/Hide all (99)
miRTarBase ID miRNA Experiments Reference
MIRT963488 hsa-miR-1202 CLIP-seq
MIRT963489 hsa-miR-1205 CLIP-seq
MIRT963490 hsa-miR-1207-3p CLIP-seq
MIRT963491 hsa-miR-1236 CLIP-seq
MIRT963492 hsa-miR-1291 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12 Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0006457 Process Protein folding TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611898 24622 ENSG00000167280
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFI3
Protein name Cytosolic endo-beta-N-acetylglucosaminidase (ENGase) (EC 3.2.1.96)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03644 Glyco_hydro_85 135 → 412 Glycosyl hydrolase family 85 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in thymus and spleen. {ECO:0000269|PubMed:12114544}.
Sequence
MEAAAVTVTRSATRRRRRQLQGLAAPEAGTQEEQEDQEPRPRRRRPGRSIKDEEEETVFR
EVVSFSPDPLPVRYYDKDTTKPISFYLSSLEELLAWKPRLEDGFNVALEPLACRQPPLSS
QRPRTLLCHDMMGGYLDDRFIQGSVVQTPYAFYHWQCIDVFVYFSHHTVTIPPVGWTNTA
HRHGVCVLGTFITEWNEGGRLCEAFLAGDERSYQAVADRLVQITQFFRFDGWLINIENSL
SLAAVGNMPPFLRYLTTQLHRQVPGGLVLWYDSVVQSGQLKWQDELNQHNRVFFDSCDGF
FTNYNWREEHLERMLGQAGERRADVYVGVDVFARGNVVGGRFDTDKSLELIRKHGFSVAL
FAPGWVYECLEKKDFFQNQDKFWGRLERYLPTHSICSLPFVTSFCLGMGARR
VCYGQEEA
VGPWYHLSAQEIQPLFGEHRLGGDGRGWVRTHCCLEDAWHGGSSLLVRGVIPPEVGNVAV
RLFSLQAPVPPKIYLSMVYKLEGPTDVTVALELTTGDAGSCHIGGISVLNAETSSRHSLR
PLRVPPTKLARWVGRCGRQLSGGWVQHCYEVSLRGCLLLDLLVCFSRPPGSREEESFTCR
LGEIQVVDAASLLAPLPQVQAVTISHIRWQPSASEREGPPALLQLSCTLHWSFLLSQVRC
FRIHCWGGMSDDSPGRELPRPEMPMFLGLAFATQYRIVDLLVEAAGPGQDRRMEFLVEPV
PKEGFRVPQAEWGRAVLLYSAPA
Sequence length 743
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Other glycan degradation N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 3543022
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 2736531, 3543022
★★★★★
★☆☆☆☆
Found in Text Mining only
NGLY1 deficiency NGLY1 Deficiency BEFREE 28426790, 28512024
★★★★★
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis LHGDN 12905469
★★★★★
★☆☆☆☆
Found in Text Mining only