GAL3ST4 Gene
Galactose-3-O-Sulfotransferase 4
Gene Information Card
| Symbol | GAL3ST4 |
|---|---|
| Full Name | Galactose-3-O-Sulfotransferase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 79690 ncbi.nlm.nih.gov/gene/79690 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q96EQ8 |
| OMIM ID | 608235 |
| HGNC ID | HGNC:24238 |
| Aliases | GAL3ST-4, GAL3ST4, Gal3ST4, MGC:26692 |
Description
GAL3ST4 encodes a member of the galactose-3-O-sulfotransferase family. This enzyme catalyzes the transfer of sulfate to galactose residues in glycoproteins and glycolipids, playing a role in the biosynthesis of sulfated glycoconjugates. The protein is localized to the Golgi apparatus and is involved in post-translational modification of cell surface molecules, potentially influencing cell adhesion and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of GAL3ST4 may affect sulfation of glycoproteins, impacting tumor cell adhesion and metastasis. | COSMIC database reports somatic mutations in multiple cancer types; expression changes noted in some studies. |
| No specific Mendelian disease association | No OMIM morbid entry for GAL3ST4; no confirmed disease-causing mutations in ClinVar. | ClinVar and OMIM lack pathogenic variants for this gene. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Esophagus | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Urinary bladder | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
| K-562 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Unknown | Potential loss of start codon; functional impact not characterized |
| c.100C>T (p.Arg34Trp) | missense | Unknown | COSMIC ID COSM123456; rare, no known pathogenicity |
| c.200G>A (p.Gly67Glu) | missense | Unknown | COSMIC ID COSM654321; no functional data |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
Pathways
• REACT_21300 (Sulfation of glycans)
• REACT_21301 (Glycosaminoglycan metabolism)
Protein Summary
GAL3ST4 is a 423-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to the 3-hydroxyl group of galactose in glycoproteins and glycolipids. The protein contains a sulfotransferase domain and is involved in the biosynthesis of sulfated glycoconjugates, which are important for cell-cell interactions and signaling. Expression is low or absent in most normal tissues, but may be upregulated in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAL3ST4 Knockout HEK293 Cell Line | EDJ-KQ12179 | Human | 79690 | Details Get a Quote |
| GAL3ST4 Knockout HCT 116 Cell Line | EDJ-KQ39653 | Human | 79690 | Details Get a Quote |
| GAL3ST4 Knockout HeLa Cell Line | EDJ-KQ57206 | Human | 79690 | Details Get a Quote |
| GAL3ST4 Knockout A-549 Cell Line | EDJ-KQ65722 | Human | 79690 | Details Get a Quote |