TTLL5

Chr 14q24.3

tubulin tyrosine ligase like 5

Aliases:: STAMP
MANE:: ENST00000298832.14

OMIM: 612268 ↗NCBI: 23093 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TTLL5 · Q6EMB2

v62025-08-01

Predicted Aligned Error matrix for TTLL5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.4/ 100

Low

1,281 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)20%
Low(50–70)5%
Very low(< 50)48%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Cone rod dystrophy
0.72
cone-rod dystrophy
0.63
Retinal dystrophy
0.55
retinitis pigmentosa
0.49
Rod-cone dystrophy
0.47
carpal tunnel syndrome
0.37
central areolar choroidal dystrophy
0.36
placental abruption
0.34
jaw disease
0.24
polyarteritis nodosa
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tubulin polyglutamylase TTLL5

Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polyglutamylation reaction over the elongation step. Preferentially modifies the alpha-tubulin tail over a beta-tail (By similarity). Required for CCSAP localization to both polyglutamylated spindle and cilia microtubules (PubMed:22493317). Increases the effects of transcriptional coactivator NCOA2/TIF2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691)