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FLASH GENE

Symbol

NGLY1

contributors: mct - updated : 09-01-2019

HGNC name	N-glycanase 1
HGNC id	17646

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1V congenital disorder of glycosylation, type 1 V
Location	3p24.2      Physical location : 25.760.435 - 25.831.530
Synonym name	peptide:N-glycanase
Synonym symbol(s)	PNG1, FLJ11005, FLJ12409, PNGase
EC.number	3.5.1.52

DNA

TYPE	functioning gene
STRUCTURE	71.09 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001145294 12 - 2539 NP_001138766 70.08 612 - 2003 12711318 NM_001145295 11 - 2421 NP_001138767 63.7 558 - 2003 12711318 NM_018297 12 - 2599 NP_060767 74.3 654 - 2003 12711318 NM_001145293 12 - 2545 NP_001138765 72.15 636 - 2003 12711318

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Lymphoid/Immune spleen           thymus         Nervous brain         Reproductive male system prostate         male system male genital tract       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Lymphoid         Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a PUB domain, interacting with Ub and Ub-like domain (UBL) of the proteasome shuttle factors RAD23A, RAD23B
	C-terminus of NGLY1, a novel carbohydrate-binding domain, is important for recognition of the substrates while N-terminus of this enzyme is involved in assembly of a degradation complex

HOMOLOGY

interspecies	ortholog to murine Ngly1
	homolog to Drosophila PNGase

Homologene

FAMILY	transglutaminase-like superfamily
	PNGase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	having to N-4 (N acetyl-beta-glucosaminyl) asparagine amidase activity
	is a de-N-glycosylating enzyme that cleaves intact N-glycans from glycoproteins/glycopeptides
	involved in the quality control system for the newly synthesized glycoproteins in the endoplasmic reticulum (ER)
	enzyme responsible for cleaving oligosaccharide moieties from misfolded glycoproteins to enable their proper degradation
	NGLY1 directly influences mitochondrial function
	novel functions of the NGLY1-NRF1 pathway in mitochondrial homeostasis and inflammation

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

novel functions of the NGLY1-NRF1 pathway in mitochondrial homeostasis and inflammation

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1V

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function in melanoma cell lines and patient tumours

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer skin   targeting NGLY1 represents a novel anti-melanoma strategy

ANIMAL & CELL MODELS