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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TTLL3
tubulin tyrosine ligase like 3
Chromosome 3 · 3p25.3
NCBI Gene: 26140Ensembl: ENSG00000214021HGNC: HGNC:24483UniProt: A0A8I5KXU2
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-glycine ligase activityprotein polyglycylationspermatogenesisflagellated sperm motilitygenetic disorderApneaage-related macular degenerationchoroidal dystrophy, central areolar, 1
✦AI Summary

TTLL3 (tubulin tyrosine ligase-like 3) is a monoglycylase that catalyzes the addition of single glycine residues to specific glutamate residues within the C-terminal tails of alpha- and beta-tubulin 1. The enzyme preferentially glycylates beta-tubulin but shifts its preference toward alpha-tubulin as beta-tubulin glutamylation increases, competing with polyglutamylases for overlapping modification sites 1. This competition creates an anticorrelation between glycylation and glutamylation reactions that is part of a combinatorial "tubulin code" regulating microtubule interactions with cellular effectors 1. TTLL3 is essential for microtubule glycylation in primary cilia, where it works with TTLL8 to maintain cilium stability and prevent degeneration 23. The enzyme is the only tubulin glycylase expressed in the human retina, where it is critical for preventing photoreceptor cilium degeneration 3. In colon epithelium, TTLL3-mediated primary cilia maintenance controls epithelial cell proliferation; TTLL3 knockout mice show reduced primary cilia numbers, increased cell division, and strongly promoted tumor development 2. Decreased TTLL3 expression is associated with human colorectal carcinoma development 2. Additionally, TTLL3 glycylates sperm flagella to regulate axonemal dynein motor activity, controlling male fertility [UniProt]. Rare TTLL3 mutations have been identified in persistent pulmonary hypertension of the newborn patients 4.

Sources cited
1
TTLL3 glycylates beta-tubulin tail at four sites in hierarchical order and competes with glutamylase TTLL7 for overlapping sites, creating anticorrelation between glycylation and glutamylation
PMID: 28576883
2
TTLL3 is required for primary cilia formation in colon, controls cell proliferation of epithelial cells, and decreased TTLL3 expression is linked to colorectal carcinoma development
PMID: 25180231
3
TTLL3 is the only tubulin glycylase expressed in human retina and is essential for monoglycylation of retinal photoreceptor cilia to prevent cilium degeneration
PMID: 36176300
4
Rare mutations in TTLL3 (p.E317K, p.P777S) were identified in persistent pulmonary hypertension of the newborn patients
PMID: 32054482
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
genetic disorderOpen Targets
0.33Weak
ApneaOpen Targets
0.28Weak
age-related macular degenerationOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
age related macular degeneration 11Open Targets
0.05Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
age related macular degeneration 4Open Targets
0.05Suggestive
age related macular degeneration 6Open Targets
0.05Suggestive
age related macular degeneration 7Open Targets
0.05Suggestive
Leber congenital amaurosis 13Open Targets
0.05Suggestive
hereditary mixed polyposis syndromeOpen Targets
0.05Suggestive
retinitis pigmentosa 87 with choroidal involvementOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
cleft lip-retinopathy syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HOATZShared pathway100%TTLL8Shared pathway75%TMEM232Shared pathway50%CFAP161Shared pathway50%IQUBShared pathway50%CABS1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
46%
Lung
36%
Heart
19%
Liver
14%
Brain
5%
Gene Interaction Network
Click a node to explore
TTLL3HOATZTTLL8TMEM232CFAP161IQUBCABS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y4R7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.70–1.05]
RankingsWhere TTLL3 stands among ~20K protein-coding genes
  • #16,033of 20,598
    Most Researched14
  • #10,557of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedTTLL3
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Crystal structure of tubulin tyrosine ligase-like 3 reveals essential architectural elements unique to tubulin monoglycylases.
PMID: 28576883
Proc Natl Acad Sci U S A · 2017
1.00
2
Spatial Proteomics for Further Exploration of Missing Proteins: A Case Study of the Ovary.
PMID: 36108145
J Proteome Res · 2023
0.83
3
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.
PMID: 36176300
Front Genet · 2022
0.67
4
Identifying Novel Osteoarthritis-Associated Genes in Human Cartilage Using a Systematic Meta-Analysis and a Multi-Source Integrated Network.
PMID: 35457215
Int J Mol Sci · 2022
0.50
5
Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.
PMID: 32054482
Respir Res · 2020
0.33