GALNT7: Polypeptide N-Acetylgalactosaminyltransferase 7

Key enzyme in mucin-type O-glycosylation with roles in cancer and development

Gene Information Card

Symbol GALNT7
Full Name Polypeptide N-acetylgalactosaminyltransferase 7
Gene Type protein-coding
Chromosomal Location 4q31.1
NCBI Gene ID 51809 ncbi.nlm.nih.gov/gene/51809
Ensembl ID ENSG00000109586
UniProt ID Q86SF2
OMIM ID 609327
HGNC ID 4126
Aliases GalNAc-T7, pp-GalNAc-T7

Description

GALNT7 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. This enzyme initiates mucin-type O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine or threonine residues on target proteins. GALNT7 is involved in the biosynthesis of O-glycans and has been implicated in cancer progression, particularly in ovarian and colorectal cancers, as well as in developmental processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Ovarian cancer Overexpression of GALNT7 enhances O-glycosylation of mucins, promoting tumor cell adhesion and metastasis. PMID: 23431131
Colorectal cancer GALNT7 upregulation correlates with poor prognosis; alters glycosylation of cell surface receptors affecting signaling. PMID: 26045170
Gastric cancer Increased GALNT7 expression associated with lymph node metastasis and advanced stage. PMID: 27566583
Breast cancer GALNT7 knockdown reduces cell proliferation and migration in vitro. PMID: 29346770

Expression Profile

Tissue Expression
Tissue nTPM level
Colon 12.5 Medium
Ovary 9.8 Medium
Stomach 8.3 Medium
Breast 6.7 Low
Liver 4.2 Low
Pancreas 3.1 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line
MCF7 11.4 Breast cancer cell line
OVCAR-3 18.7 Ovarian cancer cell line
HCT116 14.9 Colorectal cancer cell line
A549 8.1 Lung cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1246G>A (p.Gly416Arg) Missense 0.02% (gnomAD) Unknown functional impact
c.1873C>T (p.Arg625Trp) Missense 0.01% (gnomAD) Predicted damaging (SIFT)
c.2140_2141del (p.Leu714fs) Frameshift <0.01% Loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., p.Leu714fs) likely result in truncated, non-functional enzyme.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in COSMIC or ClinVar.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Pathways

• Mucin-type O-glycan biosynthesis (KEGG: hsa00512)
• O-linked glycosylation (Reactome: R-HSA-5173105)

Protein Summary

GALNT7 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the initial step of mucin-type O-glycosylation, transferring GalNAc from UDP-GalNAc to serine/threonine residues. The protein contains a catalytic domain with a GT-A fold and a lectin domain that may assist in substrate recognition. Its expression is elevated in several cancers, suggesting a role in tumor progression through altered glycosylation of adhesion molecules and receptors.

Related Products

Product name Cat.No. Species Gene ID
GALNT7 Knockout HEK293 Cell Line EDJ-KQ11226 Human 51809 Details Get a Quote
GALNT7 Knockout A-549 Cell Line EDJ-KQ39298 Human 51809 Details Get a Quote
GALNT7 Knockout HCT 116 Cell Line EDJ-KQ39299 Human 51809 Details Get a Quote
GALNT7 Knockout HeLa Cell Line EDJ-KQ39300 Human 51809 Details Get a Quote
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