Seroatlas · Human Serome Atlas

NGLY1

Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase

Also known as: FLJ11005, NGLY1_HUMAN, PNG-1, PNG1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96IV0
Gene
NGLY1
Ensembl
ENSG00000151092
Chromosome
3
Canonical length
654 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

654 residues, UniProt reviewed canonical sequence.

>Q96IV0|NGLY1
     1  MAAAALGSSS GSASPAVAEL CQNTPETFLE ASKLLLTYAD NILRNPNDEK YRSIRIGNTA
    61  FSTRLLPVRG AVECLFEMGF EEGETHLIFP KKASVEQLQK IRDLIAIERS SRLDGSNKSH
   121  KVKSSQQPAA STQLPTTPSS NPSGLNQHTR NRQGQSSDPP SASTVAADSA ILEVLQSNIQ
   181  HVLVYENPAL QEKALACIPV QELKRKSQEK LSRARKLDKG INISDEDFLL LELLHWFKEE
   241  FFHWVNNVLC SKCGGQTRSR DRSLLPSDDE LKWGAKEVED HYCDACQFSN RFPRYNNPEK
   301  LLETRCGRCG EWANCFTLCC RAVGFEARYV WDYTDHVWTE VYSPSQQRWL HCDACEDVCD
   361  KPLLYEIGWG KKLSYVIAFS KDEVVDVTWR YSCKHEEVIA RRTKVKEALL RDTINGLNKQ
   421  RQLFLSENRR KELLQRIIVE LVEFISPKTP KPGELGGRIS GSVAWRVARG EMGLQRKETL
   481  FIPCENEKIS KQLHLCYNIV KDRYVRVSNN NQTISGWENG VWKMESIFRK VETDWHMVYL
   541  ARKEGSSFAY ISWKFECGSV GLKVDSISIR TSSQTFQTGT VEWKLRSDTA QVELTGDNSL
   601  HSYADFSGAT EVILEAELSR GDGDVAWQHT QLFRQSLNDH EENCLEIIIK FSDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NGLY1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
52 nTPM

Expression across tissuesHPA

Tissue

  • testis: 52 nTPM
  • skeletal muscle: 45 nTPM
  • tongue: 36 nTPM
  • thymus: 26 nTPM
  • lymph node: 24 nTPM
  • bone marrow: 24 nTPM

Single-cell type

  • late spermatids: 1,595 nCPM
  • early spermatids: 729 nCPM
  • pancreatic acinar cells: 463 nCPM
  • pdcs: 310 nCPM
  • late primary spermatocytes: 261 nCPM
  • b-cells: 229 nCPM

Immune cell

  • plasmacytoid DC: 65 nTPM
  • basophil: 49 nTPM
  • NK-cell: 45 nTPM
  • memory B-cell: 42 nTPM
  • naive B-cell: 34 nTPM
  • myeloid DC: 32 nTPM

Brain region

  • choroid plexus: 21 nTPM
  • cerebellum: 19 nTPM
  • midbrain: 18 nTPM
  • thalamus: 17 nTPM
  • cerebral cortex: 17 nTPM
  • white matter: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NGLY1.

Disease | AllUniProt

Conditions NGLY1 is implicated in, by any mechanism.

  • Congenital disorder of deglycosylation 1 (CDDG1) MIM:615273

Disease | GeneticClinVar

129 pathogenic / likely-pathogenic of 934 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.95
gnomAD pLI
0
gnomAD missense Z
-0.07
DepMap mean gene effect
-0.23
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NGLY1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NGLY1 as an antibody target. Whether an autoantibody or antibody against NGLY1 could matter depends on whether native NGLY1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NGLY1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NGLY1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NGLY1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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