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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TPGS1
tubulin polyglutamylase complex subunit 1
Chromosome 19 · 19p13.3
NCBI Gene: 91978Ensembl: ENSG00000141933.9HGNC: HGNC:25058UniProt: Q6ZTW0
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-macromolecule adaptor activitymicrotubule cytoskeleton organizationmicrotubulecentrosomesialadenitisazoospermiapartial chromosome Y deletionspermatogenic failure 72
✦AI Summary

TPGS1 (tubulin polyglutamylase complex subunit 1) is a subunit of the tubulin polyglutamylase complex that mediates polyglutamylation of tubulin in cilia and flagella, essential for their biogenesis and motility 1. The protein functions in microtubule organization and sperm axoneme assembly, with roles in microtubule binding and centrosome function. TPGS1 appears involved in glucose transport and cellular movement through its effects on microtubule polymerization 1. Beyond its canonical role in cilia biology, TPGS1 has emerged as a biomarker in immune-related pathologies. Dysregulation of TPGS1 was identified as NT1-specific in CD4 T-cells, where it participates in immune synapse formation and TCR signaling 2. Additionally, TPGS1 was identified as part of the RISK4LEP signature—a prospective 4-gene blood transcriptomic biomarker predicting leprosy development 4-61 months before clinical diagnosis (AUC=86.4%) 3. Cord blood DNA methylation at TPGS1 (CpG18582997) associates with body mass index trajectories from birth to early childhood, suggesting involvement in early metabolic programming 4. Rare variants in TPGS1 were identified in polymicrogyria, implicating it in Wnt signaling regulation relevant to cortical development 5. These findings suggest TPGS1 functions extend beyond microtubule biology to immune regulation, metabolic homeostasis, and neuronal development.

Sources cited
1
TPGS1 identified in L6 skeletal muscle cells under glucose conditions; helps in microtubule polymerization involved in glucose transport and cellular movement
PMID: 29623822
2
TPGS1 identified as NT1-specific differentially expressed gene in CD4 T-cells involved in tubulin arrangement, immune synapse formation, and TCR signaling
PMID: 38077397
3
TPGS1 identified as component of RISK4LEP prospective 4-gene blood signature predicting leprosy development with AUC=86.4%
PMID: 34090257
4
TPGS1 cord blood DNA methylation (CpG18582997) associated with body mass index percentile trajectories from birth to 3 years
PMID: 37088033
5
TPGS1 rare pathological variants identified in polymicrogyria case; involved in Wnt signaling regulation relevant to cortical patterning
PMID: 39717325
Disease Associationsⓘ20
sialadenitisOpen Targets
0.12Weak
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
spermatogenic failure 72Open Targets
0.06Suggestive
spermatogenic failure 78Open Targets
0.06Suggestive
spermatogenic failure 20Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
spermatogenic failure 42Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.06Suggestive
spermatogenic failure 54Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.06Suggestive
spermatogenic failure 39Open Targets
0.06Suggestive
spermatogenic failure 43Open Targets
0.06Suggestive
spermatogenic failure 45Open Targets
0.06Suggestive
spermatogenic failure 82Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPGS2Protein interaction97%LRRC49Protein interaction97%NICN1Protein interaction97%TTLL1Protein interaction86%CFAP44Shared pathway67%CFAP157Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Ovary
80%
Lung
67%
Brain
52%
Heart
8%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
TPGS1TPGS2LRRC49NICN1TTLL1CFAP44CFAP157
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZTW0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.63 [1.46–1.99]
RankingsWhere TPGS1 stands among ~20K protein-coding genes
  • #11,085of 20,598
    Most Researched35
  • #17,831of 17,882
    Most Constrained (LOEUF)1.99
Genes detectedTPGS1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
The transcriptomics profiling of blood CD4 and CD8 T-cells in narcolepsy type I.
PMID: 38077397
Front Immunol · 2023
1.00
2
Blood RNA signature RISK4LEP predicts leprosy years before clinical onset.
PMID: 34090257
EBioMedicine · 2021
0.80
3
Umbilical cord DNA methylation is associated with body mass index trajectories from birth to adolescence.
PMID: 37088033
EBioMedicine · 2023
0.60
4
A Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.
PMID: 39717325
Cureus · 2024
0.40
5
Mass Spectrometric Analysis of Proteins of L6 Skeletal Muscle Cells Under Different Glucose Conditions and Vitamin D Supplementation.
PMID: 29623822
Protein Pept Lett · 2018
0.20