Seroatlas · Human Serome Atlas

CHSY1

Chondroitin sulfate synthase 1

Also known as: CHSS1_HUMAN, CSS1, KIAA0990

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

Protein identityUniProt · HPA

UniProt accession
Q86X52
Gene
CHSY1
Ensembl
ENSG00000131873
Chromosome
15
Canonical length
802 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to blood

OverviewNCBI Gene

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

802 residues, UniProt reviewed canonical sequence.

>Q86X52|CHSY1
     1  MAARGRRAWL SVLLGLVLGF VLASRLVLPR ASELKRAGPR RRASPEGCRS GQAAASQAGG
    61  ARGDARGAQL WPPGSDPDGG PRDRNFLFVG VMTAQKYLQT RAVAAYRTWS KTIPGKVQFF
   121  SSEGSDTSVP IPVVPLRGVD DSYPPQKKSF MMLKYMHDHY LDKYEWFMRA DDDVYIKGDR
   181  LENFLRSLNS SEPLFLGQTG LGTTEEMGKL ALEPGENFCM GGPGVIMSRE VLRRMVPHIG
   241  KCLREMYTTH EDVEVGRCVR RFAGVQCVWS YEMQQLFYEN YEQNKKGYIR DLHNSKIHQA
   301  ITLHPNKNPP YQYRLHSYML SRKISELRHR TIQLHREIVL MSKYSNTEIH KEDLQLGIPP
   361  SFMRFQPRQR EEILEWEFLT GKYLYSAVDG QPPRRGMDSA QREALDDIVM QVMEMINANA
   421  KTRGRIIDFK EIQYGYRRVN PMYGAEYILD LLLLYKKHKG KKMTVPVRRH AYLQQTFSKI
   481  QFVEHEELDA QELAKRINQE SGSLSFLSNS LKKLVPFQLP GSKSEHKEPK DKKINILIPL
   541  SGRFDMFVRF MGNFEKTCLI PNQNVKLVVL LFNSDSNPDK AKQVELMRDY RIKYPKADMQ
   601  ILPVSGEFSR ALALEVGSSQ FNNESLLFFC DVDLVFTTEF LQRCRANTVL GQQIYFPIIF
   661  SQYDPKIVYS GKVPSDNHFA FTQKTGFWRN YGFGITCIYK GDLVRVGGFD VSIQGWGLED
   721  VDLFNKVVQA GLKTFRSQEV GVVHVHHPVF CDPNLDPKQY KMCLGSKAST YGSTQQLAEM
   781  WLEKNDPSYS KSSNNNGSVR TA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHSY1 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
1
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
44 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 44 nTPM
  • urinary bladder: 32 nTPM
  • blood vessel: 32 nTPM
  • adipose tissue: 26 nTPM
  • bone marrow: 22 nTPM
  • lung: 21 nTPM

Single-cell type

  • neutrophils: 634 nCPM
  • monocytes: 268 nCPM
  • neutrophil progenitors: 217 nCPM
  • monocyte progenitors: 195 nCPM
  • vascular endothelial cells: 192 nCPM
  • choroid plexus epithelial cells: 177 nCPM

Immune cell

  • neutrophil: 4.9 nTPM
  • eosinophil: 2.9 nTPM
  • T-reg: 1.8 nTPM
  • MAIT T-cell: 1.7 nTPM
  • memory CD8 T-cell: 1.6 nTPM
  • gdT-cell: 1.5 nTPM

Brain region

  • choroid plexus: 26 nTPM
  • medulla oblongata: 26 nTPM
  • midbrain: 25 nTPM
  • thalamus: 23 nTPM
  • pons: 21 nTPM
  • spinal cord: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHSY1.

Disease | AllUniProt

Conditions CHSY1 is implicated in, by any mechanism.

  • Temtamy preaxial brachydactyly syndrome (TPBS) MIM:605282

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 325 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)
0.41
gnomAD pLI
0.71
gnomAD missense Z
0.83
DepMap mean gene effect
0.05
DepMap dependency class
none

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 CHSY1 as an antibody target. Whether an autoantibody or antibody against CHSY1 could matter depends on whether native CHSY1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHSY1 is annotated as secreted, so native CHSY1 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 CHSY1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CHSY1. 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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