Seroatlas · Human Serome Atlas

GALNS

N-acetylgalactosamine-6-sulfatase

Also known as: GalN6S, GALNAC6S, GALNS_HUMAN, GAS

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

Protein identityUniProt · HPA

UniProt accession
P34059
Gene
GALNS
Ensembl
ENSG00000141012
Chromosome
16
Canonical length
522 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Cytosol
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>P34059|GALNS
     1  MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG EPSRETPNLD
    61  RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT NAHARNAYTP QEIVGGIPDS
   121  EQLLPELLKK AGYVSKIVGK WHLGHRPQFH PLKHGFDEWF GSPNCHFGPY DNKARPNIPV
   181  YRDWEMVGRY YEEFPINLKT GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY
   241  ASKPFLGTSQ RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG
   301  GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL ALAGLTPPSD
   361  RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA HFWTWTNSWE NFRQGIDFCP
   421  GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE RFPLSFASAE YQEALSRITS VVQQHQEALV
   481  PAQPQLNVCN WAVMNWAPPG CEKLGKCLTP PESIPKKCLW SH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALNS 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)
0.22
Highest tissue expression
26 nTPM

Expression across tissuesHPA

Tissue

  • testis: 26 nTPM
  • bone marrow: 21 nTPM
  • choroid plexus: 16 nTPM
  • epididymis: 14 nTPM
  • adrenal gland: 12 nTPM
  • pituitary gland: 11 nTPM

Single-cell type

  • ependymal cells: 105 nCPM
  • epididymal efferent duct ciliated cells: 96 nCPM
  • respiratory ciliated cells: 85 nCPM
  • late primary spermatocytes: 67 nCPM
  • neutrophils: 63 nCPM
  • late spermatids: 61 nCPM

Immune cell

  • eosinophil: 31 nTPM
  • neutrophil: 22 nTPM
  • classical monocyte: 18 nTPM
  • intermediate monocyte: 13 nTPM
  • myeloid DC: 11 nTPM
  • non-classical monocyte: 9.6 nTPM

Brain region

  • choroid plexus: 47 nTPM
  • midbrain: 36 nTPM
  • medulla oblongata: 28 nTPM
  • cerebral cortex: 26 nTPM
  • hypothalamus: 26 nTPM
  • pons: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALNS.

Disease | AllUniProt

Conditions GALNS is implicated in, by any mechanism.

Disease | GeneticClinVar

309 pathogenic / likely-pathogenic of 1,394 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)
1.01
gnomAD pLI
0
gnomAD missense Z
-0.43
DepMap mean gene effect
0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 GALNS as an antibody target. Whether an autoantibody or antibody against GALNS could matter depends on whether native GALNS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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