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.

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 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
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