Seroatlas · Human Serome Atlas

HGSNAT

Heparan-alpha-glucosaminide N-acetyltransferase

Also known as: FLJ32731, HGNAT, HGNAT_HUMAN, TMEM76

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

Protein identityUniProt · HPA

UniProt accession
Q68CP4
Gene
HGSNAT
Ensembl
ENSG00000165102
Chromosome
8
Canonical length
663 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

Canonical amino-acid sequenceUniProt

663 residues, UniProt reviewed canonical sequence.

>Q68CP4|HGSNAT
     1  MTGARASAAE QRRAGRSGQA RAAERAAGMS GAGRALAALL LAASVLSAAL LAPGGSSGRD
    61  AQAAPPRDLD KKRHAELKMD QALLLIHNEL LWTNLTVYWK SECCYHCLFQ VLVNVPQSPK
   121  AGKPSAAAAS VSTQHGSILQ LNDTLEEKEV CRLEYRFGEF GNYSLLVKNI HNGVSEIACD
   181  LAVNEDPVDS NLPVSIAFLI GLAVIIVISF LRLLLSLDDF NNWISKAISS RETDRLINSE
   241  LGSPSRTDPL DGDVQPATWR LSALPPRLRS VDTFRGIALI LMVFVNYGGG KYWYFKHASW
   301  NGLTVADLVF PWFVFIMGSS IFLSMTSILQ RGCSKFRLLG KIAWRSFLLI CIGIIIVNPN
   361  YCLGPLSWDK VRIPGVLQRL GVTYFVVAVL ELLFAKPVPE HCASERSCLS LRDITSSWPQ
   421  WLLILVLEGL WLGLTFLLPV PGCPTGYLGP GGIGDFGKYP NCTGGAAGYI DRLLLGDDHL
   481  YQHPSSAVLY HTEVAYDPEG ILGTINSIVM AFLGVQAGKI LLYYKARTKD ILIRFTAWCC
   541  ILGLISVALT KVSENEGFIP VNKNLWSLSY VTTLSSFAFF ILLVLYPVVD VKGLWTGTPF
   601  FYPGMNSILV YVGHEVFENY FPFQWKLKDN QSHKEHLTQN IVATALWVLI AYILYRKKIF
   661  WKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HGSNAT 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
Other membrane
Secreted
No
Transmembrane segments
11
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
36 nTPM

Expression across tissuesHPA

Tissue

  • skin: 36 nTPM
  • ovary: 34 nTPM
  • cervix: 32 nTPM
  • adipose tissue: 31 nTPM
  • endometrium: 30 nTPM
  • pituitary gland: 30 nTPM

Single-cell type

  • lactotrophs: 363 nCPM
  • somatotrophs: 355 nCPM
  • cdc: 183 nCPM
  • thyrotrophs: 166 nCPM
  • gonadotrophs: 163 nCPM
  • monocytes: 158 nCPM

Immune cell

  • myeloid DC: 16 nTPM
  • eosinophil: 9.7 nTPM
  • classical monocyte: 9 nTPM
  • NK-cell: 8.9 nTPM
  • non-classical monocyte: 8.7 nTPM
  • intermediate monocyte: 5.4 nTPM

Brain region

  • hypothalamus: 41 nTPM
  • cerebral cortex: 37 nTPM
  • white matter: 37 nTPM
  • medulla oblongata: 36 nTPM
  • pons: 33 nTPM
  • thalamus: 33 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HGSNAT.

Disease | AllUniProt

Conditions HGSNAT is implicated in, by any mechanism.

Disease | GeneticClinVar

190 pathogenic / likely-pathogenic of 1,343 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)
0.73
gnomAD pLI
0
gnomAD missense Z
0.71
DepMap mean gene effect
-0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

  • Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain
  • Heparan-alpha-glucosaminide N-acetyltransferase, catalytic

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

HGSNAT 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 HGSNAT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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