TUBGCP4

This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

Description

Tubulin gamma complex associated protein 4

Tissue specificity

Low tissue specificity

Subcell location

Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (43369221 - 43409771)

Ensembl ID

ENSG00000137822  (ver. 103.38)

Orthologs

Mouse Tubgcp4: ENSMUSG00000027263

UniProt

Q9UGJ1

neXtProt

NX_Q9UGJ1

Human splice variants
Mouse splice variants

Protein structure