Seroatlas · Human Serome Atlas

GNPTG

N-acetylglucosamine-1-phosphotransferase subunit gamma

Also known as: C16orf27, c316G12.3, CAB56184, GNPTAG, GNPTG_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9UJJ9
Gene
GNPTG
Ensembl
ENSG00000090581
Chromosome
16
Canonical length
305 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Endoplasmic reticulum,Cytosol
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

305 residues, UniProt reviewed canonical sequence.

>Q9UJJ9|GNPTG
     1  MAAGLARLLL LLGLSAGGPA PAGAAKMKVV EEPNAFGVNN PFLPQASRLQ AKRDPSPVSG
    61  PVHLFRLSGK CFSLVESTYK YEFCPFHNVT QHEQTFRWNA YSGILGIWHE WEIANNTFTG
   121  MWMRDGDACR SRSRQSKVEL ACGKSNRLAH VSEPSTCVYA LTFETPLVCH PHALLVYPTL
   181  PEALQRQWDQ VEQDLADELI TPQGHEKLLR TLFEDAGYLK TPEENEPTQL EGGPDSLGFE
   241  TLENCRKAHK ELSKEIKRLK GLLTQHGIPY TRPTETSNLE HLGHETPRAK SPEQLRGDPG
   301  LRGSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNPTG 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
160 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 160 nTPM
  • adrenal gland: 122 nTPM
  • pancreas: 84 nTPM
  • salivary gland: 75 nTPM
  • parathyroid gland: 67 nTPM
  • liver: 64 nTPM

Single-cell type

  • adrenal cortex cells: 133 nCPM
  • epididymal principal cells: 75 nCPM
  • kupffer cells: 67 nCPM
  • decidual stromal cells: 64 nCPM
  • epididymal clear cells: 63 nCPM
  • hofbauer cells: 63 nCPM

Immune cell

  • intermediate monocyte: 181 nTPM
  • classical monocyte: 176 nTPM
  • non-classical monocyte: 172 nTPM
  • basophil: 170 nTPM
  • myeloid DC: 143 nTPM
  • plasmacytoid DC: 118 nTPM

Brain region

  • choroid plexus: 123 nTPM
  • white matter: 114 nTPM
  • basal ganglia: 108 nTPM
  • medulla oblongata: 106 nTPM
  • cerebellum: 103 nTPM
  • thalamus: 94 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNPTG.

Disease | AllUniProt

Conditions GNPTG is implicated in, by any mechanism.

  • Mucolipidosis type III complementation group C (MLIIIC) MIM:252605

Disease | GeneticClinVar

156 pathogenic / likely-pathogenic of 1,018 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)
1.22
gnomAD pLI
0
gnomAD missense Z
-2.06
DepMap mean gene effect
0.03
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

Antibody and autoantibody relevanceSeroatlas analysis

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

GNPTG is annotated as secreted, so native GNPTG circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

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

Canonical record: https://seroatlas.com/gene/GNPTG. 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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