MGP Database

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MGP006760

UniProt Annotations

Entry Information
Gene Nametubulin, beta class I
Protein EntryTBB5_HUMAN
UniProt IDP07437
SpeciesHuman
Comments
Comment typeDescription
DiseaseCortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. {ECO:0000269|PubMed:23246003}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe highly acidic C-terminal region may bind cations such as calcium.
FunctionTubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.
InteractionQ8AZK7:EBNA-LP (xeno); NbExp=3; IntAct=EBI-350864, EBI-1185167; Q5S007:LRRK2; NbExp=4; IntAct=EBI-350864, EBI-5323863;
PtmSome glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable). {ECO:0000305}.
SimilarityBelongs to the tubulin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton.
SubunitMay interact with RNABP10 (By similarity). Interacts with MX1 (By similarity). Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with PIFO. {ECO:0000250, ECO:0000269|PubMed:20643351}.
Tissue SpecificityUbiquitously expressed with highest levels in spleen, thymus and immature brain. {ECO:0000269|PubMed:20191564}.
Web ResourceName=Wikipedia; Note=Tubulin entry; URL="http://en.wikipedia.org/wiki/Tubulin";
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