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MGP003221

UniProt Annotations

Entry Information
Gene Nametubulin, gamma 1
Protein EntryTBG1_HUMAN
UniProt IDP23258
SpeciesHuman
Comments
Comment typeDescription
DiseaseCortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. {ECO:0000269|PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation.
InteractionO15169:AXIN1; NbExp=4; IntAct=EBI-302589, EBI-710484; Q96L34:MARK4; NbExp=4; IntAct=EBI-302589, EBI-302319; Q08AG7:MZT1; NbExp=2; IntAct=EBI-302589, EBI-2637198; Q6NZ67:MZT2B; NbExp=2; IntAct=EBI-302589, EBI-1052566;
Mass SpectrometryMass=51197.98; Method=MALDI; Range=1-451; Evidence={ECO:0000269|PubMed:11840567};
PtmPhosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome. {ECO:0000250}.
SimilarityBelongs to the tubulin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:9566969}.
SubunitInteracts with TUBGCP2 and TUBGCP3. Interacts with B9D2 (By similarity). Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of TUBG1 and CDK5RAP2. Interacts with PIFO. {ECO:0000250, ECO:0000269|PubMed:17959831, ECO:0000269|PubMed:20643351}.
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