Seroatlas · Human Serome Atlas

CSGALNACT1

Chondroitin sulfate N-acetylgalactosaminyltransferase 1

Also known as: CGAT1_HUMAN, ChGn, CSGalNAcT-1, FLJ11264

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

Protein identityUniProt · HPA

UniProt accession
Q8TDX6
Gene
CSGALNACT1
Ensembl
ENSG00000147408
Chromosome
8
Canonical length
532 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

532 residues, UniProt reviewed canonical sequence.

>Q8TDX6|CSGALNACT1
     1  MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
    61  LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
   121  LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
   181  VEAIESALET LNSPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
   241  LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
   301  FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
   361  IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
   421  FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
   481  CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CSGALNACT1 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
71 nTPM

Expression across tissuesHPA

Tissue

  • thyroid gland: 71 nTPM
  • placenta: 37 nTPM
  • heart muscle: 32 nTPM
  • prostate: 32 nTPM
  • ovary: 27 nTPM
  • esophagus: 24 nTPM

Single-cell type

  • neutrophils: 2,658 nCPM
  • neutrophil progenitors: 2,572 nCPM
  • prostatic glandular cells: 1,419 nCPM
  • microglia: 966 nCPM
  • astrocytes: 890 nCPM
  • cardiomyocytes: 755 nCPM

Immune cell

  • T-reg: 58 nTPM
  • naive CD4 T-cell: 37 nTPM
  • memory B-cell: 37 nTPM
  • eosinophil: 25 nTPM
  • memory CD4 T-cell: 22 nTPM
  • naive B-cell: 14 nTPM

Brain region

  • amygdala: 49 nTPM
  • cerebral cortex: 42 nTPM
  • basal ganglia: 37 nTPM
  • hippocampal formation: 31 nTPM
  • hypothalamus: 31 nTPM
  • midbrain: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CSGALNACT1.

Disease | AllUniProt

Conditions CSGALNACT1 is implicated in, by any mechanism.

  • Skeletal dysplasia, mild, with joint laxity and advanced bone age (SDJLABA) MIM:618870

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 383 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Skeletal dysplasia, mild, with joint laxity and advanced bone age

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)
1.34
gnomAD pLI
0
gnomAD missense Z
-2.63
DepMap mean gene effect
-0.01
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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CSGALNACT1 as an antibody target. Whether an autoantibody or antibody against CSGALNACT1 could matter depends on whether native CSGALNACT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CSGALNACT1 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 CSGALNACT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CSGALNACT1. 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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