Seroatlas · Human Serome Atlas

CHST3

Carbohydrate sulfotransferase 3

Also known as: C6ST, C6ST1, CHST3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q7LGC8
Gene: CHST3
Ensembl: ENSG00000122863
Chromosome: 10
Canonical length: 479 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location: Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

479 residues, UniProt reviewed canonical sequence.

>Q7LGC8|CHST3
     1  MEKGLTLPQD CRDFVHSLKM RSKYALFLVF VVIVFVFIEK ENKIISRVSD KLKQIPQALA
    61  DANSTDPALI LAENASLLSL SELDSAFSQL QSRLRNLSLQ LGVEPAMEAA GEEEEEQRKE
   121  EEPPRPAVAG PRRHVLLMAT TRTGSSFVGE FFNQQGNIFY LFEPLWHIER TVSFEPGGAN
   181  AAGSALVYRD VLKQLFLCDL YVLEHFITPL PEDHLTQFMF RRGSSRSLCE DPVCTPFVKK
   241  VFEKYHCKNR RCGPLNVTLA AEACRRKEHM ALKAVRIRQL EFLQPLAEDP RLDLRVIQLV
   301  RDPRAVLASR MVAFAGKYKT WKKWLDDEGQ DGLREEEVQR LRGNCESIRL SAELGLRQPA
   361  WLRGRYMLVR YEDVARGPLQ KAREMYRFAG IPLTPQVEDW IQKNTQAAHD GSGIYSTQKN
   421  SSEQFEKWRF SMPFKLAQVV QAACGPAMRL FGYKLARDAA ALTNRSVSLL EERGTFWVT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHST3 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): 0.32
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 24 nTPM
ovary: 20 nTPM
testis: 18 nTPM
adipose tissue: 17 nTPM
skeletal muscle: 17 nTPM
smooth muscle: 16 nTPM

Single-cell type

schwann cells: 65 nCPM
oligodendrocytes: 55 nCPM
sertoli cells: 53 nCPM
endometrial stromal cells: 50 nCPM
ependymal cells: 49 nCPM
oligodendrocyte progenitor cells: 42 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

medulla oblongata: 59 nTPM
white matter: 50 nTPM
midbrain: 38 nTPM
thalamus: 37 nTPM
pons: 37 nTPM
basal ganglia: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHST3.

Disease | AllUniProt

Conditions CHST3 is implicated in, by any mechanism.

Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) MIM:143095

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 471 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spondyloepiphyseal dysplasia with congenital joint dislocations
Larsen syndrome
Larsen-like syndrome, B3GAT3 type

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): 0.8
gnomAD pLI: 0.01
gnomAD missense Z: 0.79
DepMap mean gene effect: 0.04
DepMap dependency class: none

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

Golgi membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CHST3 as an antibody target. Whether an autoantibody or antibody against CHST3 could matter depends on whether native CHST3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CHST3 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 CHST3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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