TPGS1 (Tubulin Polyglutamylase Complex Subunit 1) - Gene Overview
Essential regulator of tubulin polyglutamylation, implicated in ciliary function and cancer
Gene Information Card
| Symbol | TPGS1 |
|---|---|
| Full Name | Tubulin polyglutamylase complex subunit 1 |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 28960 ncbi.nlm.nih.gov/gene/28960 |
| Ensembl ID | ENSG00000105617 |
| UniProt ID | O75634 |
| OMIM ID | 610081 |
| HGNC ID | 18053 |
| Aliases | C19ORF31, PGs1, FLJ12643 |
Description
TPGS1 encodes a subunit of the tubulin polyglutamylase complex, which catalyzes the post-translational addition of glutamate residues to tubulin. This modification is critical for microtubule stability and function, particularly in cilia and flagella. TPGS1 is involved in neuronal development and has been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TPGS1 expression affects tubulin polyglutamylation, impacting cell division and migration | COSMIC: mutations and expression changes in multiple cancer types |
| Ciliopathies (potential) | Defective polyglutamylation disrupts ciliary function | Inferred from functional studies; not yet clinically confirmed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | Medium |
| Testis | 15.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| A549 | 9.8 | Lung carcinoma |
| MCF7 | 7.5 | Breast cancer |
| HEK293 | 11.2 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456C>T (p.S152F) | Missense | 0.005% | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TPGS1 are rare and not well characterized; may lead to reduced polyglutamylation and ciliary defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations; overexpression in cancer may promote tumorigenesis.
Dominant Negative (DN)
Not reported; TPGS1 is a subunit, dominant-negative effects are speculative.
View complete mutation data：
Gene Ontology (GO)
| • tubulin-glutamic acid ligase activity | • microtubule binding |
| • protein polyglutamylation | • microtubule cytoskeleton organization |
| • ciliary assembly |
Pathways
• Microtubule cytoskeleton regulation
• Ciliary assembly and function
Protein Summary
TPGS1 is a 60 kDa protein that forms part of the tubulin polyglutamylase complex. It is localized to the cytoplasm and cilia, where it regulates the addition of polyglutamate chains to tubulin. This modification is essential for microtubule dynamics and is particularly important in neurons and ciliated cells. TPGS1 expression is elevated in certain cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPGS1 Knockout HEK293 Cell Line | EDJ-KQ10089 | Human | 91978 | Details Get a Quote |
| TPGS1 Knockout A-549 Cell Line | EDJ-KQ38451 | Human | 91978 | Details Get a Quote |
| TPGS1 Knockout HCT 116 Cell Line | EDJ-KQ38453 | Human | 91978 | Details Get a Quote |
| TPGS1 Knockout HeLa Cell Line | EDJ-KQ38454 | Human | 91978 | Details Get a Quote |
