TTLL13: Tubulin Tyrosine Ligase Like 13

A member of the tubulin tyrosine ligase-like family involved in post-translational modification of tubulin.

Gene Information Card

Symbol TTLL13
Full Name Tubulin Tyrosine Ligase Like 13
Gene Type Protein coding
Chromosomal Location 15q26.3
NCBI Gene ID 221140 ncbi.nlm.nih.gov/gene/221140
Ensembl ID ENSG00000185973
UniProt ID Q6ZVT0
OMIM ID 617220
HGNC ID 25860
Aliases FLJ32670, MGC26733

Description

TTLL13 (Tubulin Tyrosine Ligase Like 13) is a protein-coding gene located on chromosome 15q26.3. It belongs to the tubulin tyrosine ligase-like (TTLL) family, which is involved in the post-translational modification of tubulin, specifically in the addition of glutamate side chains (polyglutamylation). The encoded protein may play a role in microtubule dynamics and cellular architecture.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association reported Not established No evidence from ClinVar, OMIM, or COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 5.2 Low
Brain 2.1 Not detected
Lung 1.0 Not detected
Liver 0.8 Not detected
Kidney 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK 293 0.3 Low expression
HeLa 0.1 Not detected
K562 0.0 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No pathogenic variants reported N/A N/A N/A
Mutation functional classification

Loss of Function (LOF)

No data available

Gain of Function (GOF)

No data available

Dominant Negative (DN)

No data available

Pathways

Microtubule-dependent transport
Post-translational modification of tubulin

Protein Summary

The TTLL13 protein is a member of the tubulin tyrosine ligase-like family, which catalyzes the addition of glutamate residues to tubulin (polyglutamylation). This modification influences microtubule stability and function. The protein is predicted to be cytoplasmic and may interact with microtubules. Limited functional data are available.

Related Products

Product name Cat.No. Species Gene ID
TTLL13 Knockout HEK293 Cell Line EDJ-KQ15981 Human 440307 Details Get a Quote
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