Seroatlas · Human Serome Atlas

GALNT3

Polypeptide N-acetylgalactosaminyltransferase 3

Also known as: GalNAc-T3, GALT3_HUMAN, HFTC, HHS

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

Protein identityUniProt · HPA

UniProt accession
Q14435
Gene
GALNT3
Ensembl
ENSG00000115339
Chromosome
2
Canonical length
633 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Golgi apparatus

OverviewNCBI Gene

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

633 residues, UniProt reviewed canonical sequence.

>Q14435|GALNT3
     1  MAHLKRLVKL HIKRHYHKKF WKLGAVIFFF IIVLVLMQRE VSVQYSKEES RMERNMKNKN
    61  KMLDLMLEAV NNIKDAMPKM QIGAPVRQNI DAGERPCLQG YYTAAELKPV LDRPPQDSNA
   121  PGASGKAFKT TNLSVEEQKE KERGEAKHCF NAFASDRISL HRDLGPDTRP PECIEQKFKR
   181  CPPLPTTSVI IVFHNEAWST LLRTVHSVLY SSPAILLKEI ILVDDASVDE YLHDKLDEYV
   241  KQFSIVKIVR QRERKGLITA RLLGATVATA ETLTFLDAHC ECFYGWLEPL LARIAENYTA
   301  VVSPDIASID LNTFEFNKPS PYGSNHNRGN FDWSLSFGWE SLPDHEKQRR KDETYPIKTP
   361  TFAGGLFSIS KEYFEYIGSY DEEMEIWGGE NIEMSFRVWQ CGGQLEIMPC SVVGHVFRSK
   421  SPHSFPKGTQ VIARNQVRLA EVWMDEYKEI FYRRNTDAAK IVKQKAFGDL SKRFEIKHRL
   481  QCKNFTWYLN NIYPEVYVPD LNPVISGYIK SVGQPLCLDV GENNQGGKPL IMYTCHGLGG
   541  NQYFEYSAQH EIRHNIQKEL CLHAAQGLVQ LKACTYKGHK TVVTGEQIWE IQKDQLLYNP
   601  FLKMCLSANG EHPSLVSCNP SDPLQKWILS QND

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALNT3 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
73 nTPM

Expression across tissuesHPA

Tissue

  • stomach: 73 nTPM
  • salivary gland: 52 nTPM
  • bone marrow: 51 nTPM
  • rectum: 50 nTPM
  • colon: 46 nTPM
  • duodenum: 41 nTPM

Single-cell type

  • ocular epithelial cells: 299 nCPM
  • esophageal apical cells: 270 nCPM
  • goblet cells: 249 nCPM
  • late primary spermatocytes: 249 nCPM
  • mucous neck cells: 220 nCPM
  • endometrial ciliated cells: 206 nCPM

Immune cell

  • basophil: 51 nTPM
  • eosinophil: 32 nTPM
  • neutrophil: 25 nTPM
  • plasmacytoid DC: 17 nTPM
  • non-classical monocyte: 14 nTPM
  • myeloid DC: 12 nTPM

Brain region

  • spinal cord: 15 nTPM
  • white matter: 11 nTPM
  • midbrain: 11 nTPM
  • medulla oblongata: 10 nTPM
  • choroid plexus: 9.2 nTPM
  • hypothalamus: 7.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALNT3.

Disease | AllUniProt

Conditions GALNT3 is implicated in, by any mechanism.

  • Tumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1) MIM:211900

Disease | GeneticClinVar

67 pathogenic / likely-pathogenic of 537 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)
0.86
gnomAD pLI
0
gnomAD missense Z
0.39
DepMap mean gene effect
0.07
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 GALNT3 as an antibody target. Whether an autoantibody or antibody against GALNT3 could matter depends on whether native GALNT3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GALNT3 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 GALNT3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GALNT3. 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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