TTLL12: Tubulin Tyrosine Ligase Like 12
A comprehensive biomedical overview of TTLL12, a gene encoding a tubulin tyrosine ligase-like protein involved in post-translational modification and cellular signaling.
Gene Information Card
| Symbol | TTLL12 |
|---|---|
| Full Name | Tubulin Tyrosine Ligase Like 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 23170 ncbi.nlm.nih.gov/gene/23170 |
| Ensembl ID | ENSG00000100263 |
| UniProt ID | Q6ZP29 |
| OMIM ID | 617830 |
| HGNC ID | 28963 |
| Aliases | KIAA0153, TTL12, TTL-like protein 12 |
Description
TTLL12 (Tubulin Tyrosine Ligase Like 12) is a protein-coding gene located on chromosome 22q13.33. It encodes a member of the tubulin tyrosine ligase-like (TTLL) family, which catalyzes post-translational polyglutamylation of tubulin and other proteins. TTLL12 is involved in microtubule dynamics, cell cycle regulation, and may play a role in cancer progression. The protein is widely expressed in various tissues and is implicated in cellular signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | TTLL12 overexpression may promote tumorigenesis through altered microtubule stability and cell cycle dysregulation. | COSMIC; literature (PMID: 25691885) |
| Hepatocellular carcinoma | Upregulation of TTLL12 in liver cancer correlates with poor prognosis and increased proliferation. | PubMed (PMID: 31065110) |
| Colorectal cancer | TTLL12 expression is elevated in colorectal tumors and associated with metastasis. | PubMed (PMID: 28723891) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Heart | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.1 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HepG2 | 11.5 | Hepatocellular carcinoma |
| A549 | 8.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010C>T (p.Thr337Met) | Missense | 0.001% (gnomAD) | Unknown; predicted benign |
| c.1456G>A (p.Glu486Lys) | Missense | 0.002% (gnomAD) | Unknown; predicted possibly damaging |
| c.1789_1791del (p.Lys597del) | In-frame deletion | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TTLL12.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule cytoskeleton organization (Reactome: R-HSA-190840)
• Post-translational modification of tubulin (Reactome: R-HSA-8955332)
Protein Summary
The TTLL12 protein (UniProt Q6ZP29) is a 729-amino acid enzyme that belongs to the tubulin tyrosine ligase-like family. It catalyzes the addition of glutamate side chains to tubulin, a process known as polyglutamylation, which regulates microtubule stability and function. TTLL12 localizes to centrosomes and microtubules, and its expression is associated with cell cycle progression. Altered TTLL12 levels are observed in several cancers, suggesting a role in oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTLL12 Knockout HEK293 Cell Line | EDJ-KQ2169 | Human | 23170 | Details Get a Quote |
| TTLL12 Knockout HeLa Cell Line | EDJ-KQ21067 | Human | 23170 | Details Get a Quote |
| TTLL12 Knockout A-549 Cell Line | EDJ-KQ22376 | Human | 23170 | Details Get a Quote |
| TTLL12 Knockout HCT 116 Cell Line | EDJ-KQ22377 | Human | 23170 | Details Get a Quote |
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