Seroatlas · Human Serome Atlas

CHST6

Carbohydrate sulfotransferase 6

Also known as: CHST6_HUMAN, MCDC1

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

Protein identityUniProt · HPA

UniProt accession
Q9GZX3
Gene
CHST6
Ensembl
ENSG00000183196
Chromosome
16
Canonical length
395 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

395 residues, UniProt reviewed canonical sequence.

>Q9GZX3|CHST6
     1  MWLPRVSSTA VTALLLAQTF LLLFLVSRPG PSSPAGGEAR VHVLVLSSWR SGSSFVGQLF
    61  NQHPDVFYLM EPAWHVWTTL SQGSAATLHM AVRDLVRSVF LCDMDVFDAY LPWRRNLSDL
   121  FQWAVSRALC SPPACSAFPR GAISSEAVCK PLCARQSFTL AREACRSYSH VVLKEVRFFN
   181  LQVLYPLLSD PALNLRIVHL VRDPRAVLRS REQTAKALAR DNGIVLGTNG TWVEADPGLR
   241  VVREVCRSHV RIAEAATLKP PPFLRGRYRL VRFEDLAREP LAEIRALYAF TGLSLTPQLE
   301  AWIHNITHGS GPGARREAFK TSSRNALNVS QAWRHALPFA KIRRVQELCA GALQLLGYRP
   361  VYSEDEQRNL ALDLVLPRGL NGFTWASSTA SHPRN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHST6 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
1
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
8.9 nTPM

Expression across tissuesHPA

Tissue

  • cervix: 8.9 nTPM
  • midbrain: 7.4 nTPM
  • spinal cord: 7.1 nTPM
  • hippocampal formation: 5.6 nTPM
  • amygdala: 5.2 nTPM
  • basal ganglia: 4.7 nTPM

Single-cell type

  • endometrial ciliated cells: 90 nCPM
  • respiratory ciliated cells: 77 nCPM
  • endometrial secretory cells: 54 nCPM
  • ependymal cells: 44 nCPM
  • respiratory secretory cells: 42 nCPM
  • conjunctival goblet cells: 29 nCPM

Immune cell

  • basophil: 0.4 nTPM
  • neutrophil: 0.2 nTPM
  • memory B-cell: 0.1 nTPM
  • naive B-cell: 0.1 nTPM
  • NK-cell: 0.1 nTPM
  • plasmacytoid DC: 0.1 nTPM

Brain region

  • midbrain: 31 nTPM
  • thalamus: 31 nTPM
  • medulla oblongata: 30 nTPM
  • basal ganglia: 27 nTPM
  • white matter: 27 nTPM
  • spinal cord: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHST6.

Disease | AllUniProt

Conditions CHST6 is implicated in, by any mechanism.

Disease | GeneticClinVar

54 pathogenic / likely-pathogenic of 391 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Macular corneal dystrophy
  • Macular corneal dystrophy, type II
  • CHST6-related disorder
  • See cases

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)
1.82
gnomAD pLI
0
gnomAD missense Z
-0.9
DepMap mean gene effect
0.03
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 CHST6 as an antibody target. Whether an autoantibody or antibody against CHST6 could matter depends on whether native CHST6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHST6 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 CHST6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHST6. 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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