GLT8D1 Gene - Glycosyltransferase 8 Domain Containing 1
Comprehensive genomic and functional analysis of GLT8D1, a glycosyltransferase implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | GLT8D1 |
|---|---|
| Full Name | glycosyltransferase 8 domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 55830 ncbi.nlm.nih.gov/gene/55830 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q68CQ7 |
| OMIM ID | 617642 |
| HGNC ID | 24870 |
| Aliases | FLJ10706, MGC13170 |
Description
GLT8D1 (glycosyltransferase 8 domain containing 1) is a protein-coding gene located on chromosome 3p21.1. It encodes a member of the glycosyltransferase 8 family, which is involved in the biosynthesis of glycoconjugates. The protein is predicted to function in the Golgi apparatus, adding sugar residues to glycoproteins and glycolipids. GLT8D1 has been implicated in various cancers and neurological conditions, with mutations and altered expression linked to disease progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered GLT8D1 expression may affect glycosylation pathways, influencing tumor growth and metastasis. | PubMed studies show differential expression in tumor vs. normal tissue. |
| Glioma | GLT8D1 mutations (e.g., R92C) have been identified in glioma patients, potentially affecting protein function. | COSMIC and ClinVar entries list somatic mutations in glioma samples. |
| Intellectual disability | Homozygous loss-of-function variants in GLT8D1 are associated with autosomal recessive intellectual disability. | OMIM #617642 reports familial cases with biallelic mutations. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| A549 | 9.5 | Low expression |
| SH-SY5Y | 13.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R92C | Missense | <0.01% in general population; somatic in glioma | Likely affects protein folding or catalytic activity |
| L188P | Missense | Rare; reported in intellectual disability | Loss-of-function; disrupts glycosyltransferase activity |
| c.1A>G | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
L188P and start-loss mutations lead to reduced or absent enzymatic activity, associated with intellectual disability.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glycosyltransferase activity (GO:0016757) | • acetylglucosaminyltransferase activity (GO:0008375) |
| • Golgi apparatus (GO:0005794) | • Golgi membrane (GO:0000139) |
| • protein glycosylation (GO:0006486) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series
• Metabolism of proteins (glycosylation)
Protein Summary
GLT8D1 encodes a 402-amino acid protein with a glycosyltransferase 8 domain. It localizes to the Golgi membrane and catalyzes the transfer of sugar moieties to acceptor molecules, contributing to the synthesis of complex glycans. The protein is widely expressed, with highest levels in brain and testis. Structural modeling suggests a type II transmembrane topology with a short N-terminal cytoplasmic tail, a transmembrane helix, and a luminal catalytic domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLT8D1 Knockout HEK293 Cell Line | EDJ-KQ13610 | Human | 55830 | Details Get a Quote |
| GLT8D1 Knockout HeLa Cell Line | EDJ-KQ42024 | Human | 55830 | Details Get a Quote |
| GLT8D1 Knockout A-549 Cell Line | EDJ-KQ43276 | Human | 55830 | Details Get a Quote |
| GLT8D1 Knockout HCT 116 Cell Line | EDJ-KQ43277 | Human | 55830 | Details Get a Quote |
