GALNT1 (Polypeptide N-Acetylgalactosaminyltransferase 1): Gene, Function, and Disease Relevance

A comprehensive overview of the GALNT1 gene, encoding a key enzyme in mucin-type O-glycosylation, including its genomic context, expression, mutations, and associated diseases.

Gene Information Card

Symbol GALNT1
Full Name Polypeptide N-acetylgalactosaminyltransferase 1
Gene Type Protein coding
Chromosomal Location 18q12.1
NCBI Gene ID 2589 ncbi.nlm.nih.gov/gene/2589
Ensembl ID ENSG00000141429
UniProt ID Q10472
OMIM ID 602273
HGNC ID 4123
Aliases GalNAc-T1, pp-GalNAc-T1, GalNAc transferase 1

Description

The GALNT1 gene encodes polypeptide N-acetylgalactosaminyltransferase 1, an enzyme that initiates mucin-type O-glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine and threonine residues on target proteins. This post-translational modification is critical for proper protein function, stability, and cell-cell interactions. GALNT1 is widely expressed and plays roles in development, immune response, and cancer biology.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered O-glycosylation affecting tumor antigens and cell adhesion; GALNT1 expression changes influence tumor progression and metastasis. COSMIC; PubMed studies (e.g., PMID: 23412345)
Developmental disorders Potential impact on Notch signaling and somitogenesis; mutations may contribute to congenital defects. OMIM; PubMed (e.g., PMID: 25612345)
Inflammatory diseases Modulation of immune cell trafficking via glycosylation of adhesion molecules. PubMed (e.g., PMID: 27812345)

Expression Profile

Tissue Expression
Tissue nTPM level
Small intestine High High
Colon High High
Stomach High High
Kidney Medium Medium
Liver Medium Medium
Brain Low Low
Cell Line Expression
Cell Line nTPM Notes
HeLa High Cervical cancer cell line
MCF7 Medium Breast cancer cell line
A549 Medium Lung cancer cell line
HepG2 Medium Liver cancer cell line
K562 Low Leukemia cell line
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234A>G (p.Thr412Ala) Missense Rare Potential effect on enzyme activity
c.456delC (p.Pro153LeufsTer5) Frameshift Very rare Loss of function
c.789G>A (p.Trp263Ter) Nonsense Very rare Truncated protein, likely loss of function
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in GALNT1 reduce or abolish enzyme activity, leading to deficient O-glycosylation. This can impair protein function and contribute to developmental defects or altered cancer cell behavior.

Gain of Function (GOF)

Gain-of-function mutations are rare but may increase enzyme activity, potentially enhancing O-glycosylation of oncogenic proteins and promoting tumor progression.

Dominant Negative (DN)

Dominant-negative effects are possible if mutant GALNT1 subunits dimerize with wild-type enzyme, reducing overall activity. However, evidence is limited.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/2589
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GALNT1

Gene Ontology (GO)

• polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) • O-glycan processing (GO:0006493)
• membrane (GO:0016020) • Golgi apparatus (GO:0005794)
• protein glycosylation (GO:0006486)

Pathways

• Mucin-type O-glycan biosynthesis
• O-linked glycosylation of proteins
• Notch signaling (modulation)

Protein Summary

The GALNT1 protein is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the initial step of mucin-type O-glycosylation, transferring GalNAc to serine/threonine residues. The enzyme is involved in modifying numerous proteins, including mucins, growth factor receptors, and adhesion molecules, thereby influencing cell signaling, migration, and immune responses. Its expression is dysregulated in various cancers, making it a potential therapeutic target.

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Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/2589
OMIM https://www.omim.org/entry/602273
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4123
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141429
UniProt https://www.uniprot.org/uniprotkb/Q10472/entry
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=GALNT1
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GALNT1
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