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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TUBG1
tubulin gamma 1
Chromosome 17 · 17q21.2
NCBI Gene: 7283Ensembl: ENSG00000131462.10HGNC: HGNC:12417UniProt: P23258
247PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingpolar microtubulerecycling endosomeGenetic central nervous system malformationlissencephaly spectrum disordersLissencephalygenetic disorder
✦AI Summary

TUBG1 encodes tubulin gamma 1, a key component of the gamma-tubulin ring complex (γTuRC) that mediates microtubule nucleation from centrosomes 1. The protein regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protofilaments, which is critical for centrosome duplication and spindle formation during cell division 1. TUBG1 forms a cellular meshwork that enables centrosome movement by providing an interacting platform for positional changes 2. Mutations in TUBG1 cause tubulinopathies, specifically cortical dysplasia with brain malformations, characterized by microcephaly, abnormal corticogenesis, and impaired neuronal migration 13. In cancer, TUBG1 is frequently upregulated and promotes oncogenesis through multiple mechanisms. In hepatocellular carcinoma, overexpression correlates with poor prognosis and promotes cell proliferation, invasion, and migration 45. Mechanistically, TUBG1 appears to regulate cell cycle progression through ATR/P53-apoptosis pathways and affects expression of cyclins and CDK proteins 6. The protein also influences immune cell infiltration patterns in tumor environments 4. TUBG1's dual role in normal neurodevelopment and cancer progression makes it both a critical developmental regulator and potential therapeutic target.

Sources cited
1
TUBG1 mutations cause tubulinopathies with cortical dysplasia and brain malformations
PMID: 35915025
2
TUBG1 meshwork enables centrosome movement through positional interactions
PMID: 37685969
3
TUBG1 upregulation in hepatocellular carcinoma promotes proliferation, invasion, and migration
PMID: 36792863
4
High TUBG1 expression correlates with poor prognosis in HCC patients
PMID: 36523478
5
TUBG1 de novo variants identified in neurodevelopmental disorders with intellectual disability
PMID: 38114583
6
TUBG1 promotes HCC through ATR/P53-apoptosis and cell cycle pathways
PMID: 37806848
Disease Associationsⓘ21
Genetic central nervous system malformationOpen Targets
0.76Strong
lissencephaly spectrum disordersOpen Targets
0.37Weak
LissencephalyOpen Targets
0.34Weak
genetic disorderOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.06Suggestive
Polymicrogyria due to TUBB2B mutationOpen Targets
0.05Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.05Suggestive
intellectual developmental disorder, X-linked 114Open Targets
0.04Suggestive
autosomal recessive primary microcephalyOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
developmental and epileptic encephalopathy 98Open Targets
0.04Suggestive
glycine encephalopathy 1Open Targets
0.04Suggestive
neurodevelopmental disorder plus optic atrophyOpen Targets
0.04Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.04Suggestive
leukoencephalopathy, progressive, with ovarian failureOpen Targets
0.04Suggestive
developmental and epileptic encephalopathy 115Open Targets
0.04Suggestive
autoimmune diseaseOpen Targets
0.04Suggestive
neuronal ceroid lipofuscinosis 8 northern epilepsy variantOpen Targets
0.04Suggestive
Progressive epilepsy - intellectual disability, Finnish typeOpen Targets
0.04Suggestive
Cortical dysplasia, complex, with other brain malformations 4UniProt
Pathogenic Variants13
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)Pathogenic
not provided|Complex cortical dysplasia with other brain malformations 4
★★☆☆2025→ Residue 341
NM_001070.5(TUBG1):c.843+2_843+5delLikely pathogenic
Complex cortical dysplasia with other brain malformations 4
★☆☆☆2024
NM_001070.5(TUBG1):c.41G>A (p.Gly14Asp)Likely pathogenic
Inborn genetic diseases
★☆☆☆2024→ Residue 14
NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys)Likely pathogenic
Complex cortical dysplasia with other brain malformations 4
★☆☆☆2024→ Residue 92
NM_001070.5(TUBG1):c.202G>T (p.Asp68Tyr)Likely pathogenic
Complex cortical dysplasia with other brain malformations 4
★☆☆☆2024→ Residue 68
NM_001070.5(TUBG1):c.821C>T (p.Thr274Ile)Likely pathogenic
not provided
★☆☆☆2023→ Residue 274
NM_001070.5(TUBG1):c.421A>C (p.Ile141Leu)Likely pathogenic
Complex cortical dysplasia with other brain malformations 4
★☆☆☆2023→ Residue 141
NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)Likely pathogenic
Complex cortical dysplasia with other brain malformations 4
★☆☆☆2022→ Residue 242
NM_001070.5(TUBG1):c.821C>A (p.Thr274Asn)Likely pathogenic
Complex cortical dysplasia with other brain malformations 4
★☆☆☆2022→ Residue 274
NM_001070.5(TUBG1):c.1024G>A (p.Glu342Lys)Likely pathogenic
not provided
★☆☆☆2022→ Residue 342
NM_001070.5(TUBG1):c.1160T>C (p.Leu387Pro)Pathogenic
Complex cortical dysplasia with other brain malformations 4
☆☆☆☆2013→ Residue 387
NM_001070.5(TUBG1):c.991A>C (p.Thr331Pro)Pathogenic
Complex cortical dysplasia with other brain malformations 4
☆☆☆☆2013→ Residue 331
NM_001070.5(TUBG1):c.769A>T (p.Ile257Phe)Likely pathogenic
Lissencephaly
☆☆☆☆→ Residue 257
View on ClinVar ↗
Related Genes
HAUS6Protein interaction100%HAUS5Protein interaction100%HAUS1Protein interaction100%HAUS3Protein interaction100%MZT1Protein interaction100%CPAPProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
73%
Heart
61%
Liver
38%
Lung
36%
Ovary
19%
Gene Interaction Network
Click a node to explore
TUBG1HAUS6HAUS5HAUS1HAUS3MZT1CPAP
PROTEIN STRUCTURE
Preparing viewer…
PDB3CB2 · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.32Tolerant
Observed/Expected LoF0.41 [0.29–0.58]
RankingsWhere TUBG1 stands among ~20K protein-coding genes
  • #1,570of 20,598
    Most Researched247 · top 10%
  • #2,565of 5,498
    Most Pathogenic Variants13
  • #3,907of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedTUBG1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Tubulin mutations in human neurodevelopmental disorders.
PMID: 35915025
Semin Cell Dev Biol · 2023
1.00
2
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
PMID: 38114583
Eur J Hum Genet · 2024
0.90
3
Centrosome Movements Are TUBG1-Dependent.
PMID: 37685969
Int J Mol Sci · 2023
0.80
4
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
PMID: 36943622
Mol Neurobiol · 2023
0.70
5
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
PMID: 39214127
Neuropediatrics · 2024
0.64