Seroatlas · Human Serome Atlas

C1GALT1

Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Also known as: C1GALT, C1GLT_HUMAN, T-synthase

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

Protein identityUniProt · HPA

UniProt accession: Q9NS00
Gene: C1GALT1
Ensembl: ENSG00000106392
Chromosome: 7
Canonical length: 363 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

363 residues, UniProt reviewed canonical sequence.

>Q9NS00|C1GALT1
     1  MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH SDDNGQNHLE
    61  GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL EKKAKHVKAT WAQRCNKVLF
   121  MSSEENKDFP AVGLKTKEGR DQLYWKTIKA FQYVHEHYLE DADWFLKADD DTYVILDNLR
   181  WLLSKYDPEE PIYFGRRFKP YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED
   241  LALGRCMEIM NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEGPGC
   301  CSDLAVSFHY VDSTTMYELE YLVYHLRPYG YLYRYQPTLP ERILKEISQA NKNEDTKVKL
   361  GNP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C1GALT1 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): 0.29
Highest tissue expression: 43 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 43 nTPM
bone marrow: 36 nTPM
kidney: 29 nTPM
spinal cord: 28 nTPM
duodenum: 28 nTPM
placenta: 25 nTPM

Single-cell type

syncytiotrophoblasts: 329 nCPM
choroid plexus epithelial cells: 294 nCPM
breast lactating cells: 258 nCPM
esophageal apical cells: 215 nCPM
mucous neck cells: 206 nCPM
ependymal cells: 197 nCPM

Immune cell

basophil: 56 nTPM
eosinophil: 39 nTPM
non-classical monocyte: 34 nTPM
neutrophil: 29 nTPM
NK-cell: 23 nTPM
memory CD8 T-cell: 21 nTPM

Brain region

choroid plexus: 50 nTPM
white matter: 47 nTPM
spinal cord: 34 nTPM
medulla oblongata: 34 nTPM
basal ganglia: 33 nTPM
cerebellum: 31 nTPM

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): 0.47
gnomAD pLI: 0.76
gnomAD missense Z: 0.12
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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 C1GALT1 as an antibody target. Whether an autoantibody or antibody against C1GALT1 could matter depends on whether native C1GALT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C1GALT1 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 C1GALT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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