RBCC Red Blood Cell Collection

NGLY1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NGLY1 , PNG1
Protein names and data: NGLY1_HUMAN , Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; PNGase; hPNGase; 3.5.1.52 , N-glycanase 1; Peptide:N-glycanase Lenght: 654 a.a.
Mass: 74390 Da
fasta formatted sequence
Function: Specifically deglycosylates the denatured form of N- linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl- glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high- mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins.
Catalytic activity: Hydrolysis of an N(4)-(acetyl-beta-D- glucosaminyl)asparagine residue in which the glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl- beta-D-glucosaminylamine and a peptide containing an aspartate residue.
Disease: ( OMIM: 610661 615273 ) Congenital disorder of glycosylation 1V (CDG1V) [MIM:615273]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.

Genetic variants

581 - 581 V -> I (in dbSNP:rs7621398). VAR_027385 7621398
591 - 591 Q -> R (in dbSNP:rs7635089). VAR_027386 7635089

Database cross-references

UniProt: Q96IV0
Ensembl: ENST00000280700
Ensembl: ENST00000308710
Ensembl: ENST00000396649
Ensembl: ENST00000417874
Ensembl: ENST00000428257
MIM: 610661
MIM: 615273
neXtProt: NX_Q96IV0
Antibodypedia: Q96IV0 (may not find the protein thus also not any antibody)
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