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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TTLL1
TTL family tubulin polyglutamylase complex subunit L1
Chromosome 22 · 22q13.2
NCBI Gene: 25809Ensembl: ENSG00000100271.18HGNC: HGNC:1312UniProt: O95922
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
microtubule cytoskeleton organizationtubulin-glutamic acid ligase activitymicrotubuletubulin bindingprostate cancerprimary ovarian insufficiencyprostate carcinomaazoospermia
✦AI Summary

TTLL1 is the catalytic subunit of a neuronal tubulin polyglutamylase complex that catalyzes polyglutamylation—the addition of glutamate side chains to tubulin's C-terminal tail 1. Unlike autonomous polyglutamylases, TTLL1 requires association with other proteins for catalytic activity and likely mediates chain elongation rather than initiation, modifying both alpha- and beta-tubulins with preference for alpha-tubulin 1. This modification is essential for ciliary and flagellar biogenesis and motility; TTLL1-deficient mice develop primary ciliary dyskinesia-like phenotypes including chr22 rhinosinusitis and male infertility from defective sperm flagella 2. TTLL1 regulates respiratory cilia beating asymmetry and is required for normal male fertility 2. Beyond cilia/flagella, TTLL1 mediates KLF4 polyglutamylation, preventing its ubiquitination and sustaining stability during somatic cell reprogramming and embryogenesis 3. Brain polyglutamylation by TTLL1 and TTLL7 modulates glutamate homeostasis, suggesting a role in neurotransmitter metabolism 4. In disease contexts, loss of TTLL1 attenuates neurodegeneration in Purkinje cells, mitral cells, and retinal photoreceptors in Purkinje cell degeneration mice by reducing hyperglutamylation 5. Genomic associations link TTLL1 to Alzheimer's disease risk, potentially through cytoskeletal organization mechanisms 6.

Sources cited
1
TTLL1 catalytic function and requirement for complex association
PMID: 34782749
2
TTLL1 essential for respiratory cilia motility and sperm flagella biogenesis; deficiency causes primary ciliary dyskinesia-like phenotypes
PMID: 20442420
3
TTLL1 mediates KLF4 polyglutamylation essential for cell reprogramming and embryogenesis
PMID: 29593216
4
TTLL1 regulates brain glutamate homeostasis through tubulin polyglutamylation
PMID: 37238654
5
TTLL1 deficiency attenuates neurodegeneration in multiple neuron types in polyglutamylation-related disease models
PMID: 35404950
6
TTLL1 identified as novel susceptibility locus for Alzheimer's disease through multi-trait association analysis
PMID: 36672180
Disease Associationsⓘ20
prostate cancerOpen Targets
0.20Weak
primary ovarian insufficiencyOpen Targets
0.12Weak
prostate carcinomaOpen Targets
0.12Weak
azoospermiaOpen Targets
0.09Suggestive
primary ciliary dyskinesiaOpen Targets
0.08Suggestive
spermatogenic failure, X-linked, 6Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.06Suggestive
spermatogenic failure 51Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
ciliary dyskinesia, primary, 50Open Targets
0.06Suggestive
ciliary dyskinesia, primary, 51Open Targets
0.06Suggestive
spermatogenic failure 39Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPGS2Protein interaction97%EDC3Protein interaction86%TPGS1Protein interaction86%TBC1D19Protein interaction84%NICN1Protein interaction83%LRRC49Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Heart
65%
Ovary
33%
Bone Marrow
32%
Lung
20%
Liver
10%
Gene Interaction Network
Click a node to explore
TTLL1TPGS2EDC3TPGS1TBC1D19NICN1LRRC49
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95922
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.51–0.89]
RankingsWhere TTLL1 stands among ~20K protein-coding genes
  • #13,109of 20,598
    Most Researched25
  • #7,966of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedTTLL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1.
PMID: 11054573
Gene · 2000
1.00
2
TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice.
PMID: 35404950
PLoS Genet · 2022
0.90
3
Tubulin Polyglutamylation by TTLL1 and TTLL7 Regulate Glutamate Concentration in the Mice Brain.
PMID: 37238654
Biomolecules · 2023
0.80
4
Klf4 glutamylation is required for cell reprogramming and early embryonic development in mice.
PMID: 29593216
Nat Commun · 2018
0.70
5
Juxta-centromeric region of human chromosome 21 is enriched for pseudogenes and gene fragments.
PMID: 10571034
Gene · 1999
0.60