NGLY1 (N-glycanase 1)

2014-08-01  

Identity

HGNC
NGLY1
LOCATION
3p24.2
LOCUSID
55768
ALIAS
CDDG,CDG1V,PNG-1,PNG1,PNGase
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55768
MIM: 610661
HGNC: 17646
Ensembl: ENSG00000151092

Variants:

dbSNP: 55768
ClinVar: 55768
TCGA: ENSG00000151092
COSMIC: NGLY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151092ENST00000280699H0Y2P2
ENSG00000151092ENST00000280700Q96IV0
ENSG00000151092ENST00000308710A0A0C4DFP4
ENSG00000151092ENST00000396649Q96IV0
ENSG00000151092ENST00000417874Q96IV0
ENSG00000151092ENST00000427041C9JU75
ENSG00000151092ENST00000428257Q96IV0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386973872024Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.0
386973872024Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.0
361020382023N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.9
380391312023NGLY1 mutations cause protein aggregation in human neurons.2
361020382023N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.9
380391312023NGLY1 mutations cause protein aggregation in human neurons.2
349690942022Ever-expanding NGLY1 biology.2
352713932022Ferroptosis regulation by the NGLY1/NFE2L1 pathway.23
353220112022Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids.1
355656582022Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.2
362095852022Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.0
365286602022NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.1
349690942022Ever-expanding NGLY1 biology.2
352713932022Ferroptosis regulation by the NGLY1/NFE2L1 pathway.23
353220112022Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids.1

Citation

Dessen P

NGLY1 (N-glycanase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54501