GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1)
Key enzyme in mucin-type O-glycosylation, implicated in cancer and immune regulation
Gene Information Card
| Symbol | GCNT1 |
|---|---|
| Full Name | Glucosaminyl (N-Acetyl) Transferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q13.3 |
| NCBI Gene ID | 2650 ncbi.nlm.nih.gov/gene/2650 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q02742 |
| OMIM ID | 600391 |
| HGNC ID | 4198 |
| Aliases | C2/4GnT, C2GnT, C2GNT1, GLCNAC-T1, NACGT1 |
Description
GCNT1 encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme catalyzes the transfer of N-acetylglucosamine to core 1 O-glycans, forming core 2 branched O-glycans. These structures are critical for mucin function, cell adhesion, and immune recognition. GCNT1 is widely expressed and its dysregulation is linked to various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered O-glycosylation promotes tumor progression and metastasis | COSMIC, PubMed |
| Breast Cancer | Increased core 2 O-glycans affect cell adhesion and invasion | COSMIC, PubMed |
| Leukemia | Aberrant glycosylation influences leukocyte trafficking | PubMed |
| Immunodeficiency | Defective O-glycosylation impairs lymphocyte homing | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | High | High |
| Stomach | Medium | Medium |
| Lung | Medium | Medium |
| Liver | Low | Low |
| 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 | Low | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function |
| c.567G>A (p.Trp189Ter) | Nonsense | Rare | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons result in truncated non-functional protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • N-acetyllactosaminide beta-1 | • 3-N-acetylglucosaminyltransferase activity |
| • transferase activity | • Golgi membrane |
| • protein glycosylation | • O-glycan processing |
Pathways
• O-glycan biosynthesis
• Mucin type O-glycan biosynthesis
• Metabolism of proteins
Protein Summary
GCNT1 is a type II membrane protein localized to the Golgi apparatus. It is a key enzyme in the biosynthesis of core 2 O-glycans, which are essential for the proper function of mucins and other glycoproteins. The protein consists of a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain. Its activity is regulated by post-translational modifications and its expression is tissue-specific.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCNT1 Knockout HEK293 Cell Line | EDJ-KQ4691 | Human | 2650 | Details Get a Quote |
| GCNT1 Knockout HeLa Cell Line | EDJ-KQ26160 | Human | 2650 | Details Get a Quote |
| GCNT1 Knockout A-549 Cell Line | EDJ-KQ27397 | Human | 2650 | Details Get a Quote |
| GCNT1 Knockout HCT 116 Cell Line | EDJ-KQ27398 | Human | 2650 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
