TUBG1

Chr 17q21.31

tubulin gamma 1

Aliases:: TUBGCP1
MANE:: ENST00000251413.8

OMIM: 191135 ↗NCBI: 7283 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TUBG1 · P23258

v62025-08-01

Predicted Aligned Error matrix for TUBG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.6/ 100

Very high

451 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)18%
Low(50–70)3%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Malformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations

Disease associations (Open Targets)

Genetic central nervous system malformation
0.76
lissencephaly spectrum disorders
0.38
Lissencephaly
0.35
hereditary disease
0.34
hepatocellular carcinoma
0.10
autosomal recessive primary microcephaly
0.08
genetic developmental and epileptic encephalopathy
0.08
bilateral polymicrogyria
0.07
early-infantile DEE
0.07
behavioral variant of frontotemporal dementia
0.07

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

Protein function (UniProt)

Tubulin gamma-1 chain

Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:38305685, PubMed:38609661, PubMed:39321809). Gamma-tubulin is a key component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809). Plays a role in sperm morphological development during late stage spermiogenesis, particularly the anchoring of the sperm head to the tail (PubMed:38870534)