MGP Database

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MGP003418

UniProt Annotations

Entry Information
Gene Nametubulin, alpha 1a
Protein EntryTBA1A_HUMAN
UniProt IDQ71U36
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q71U36-1; Sequence=Displayed; Name=2; IsoId=Q71U36-2; Sequence=VSP_046782; Note=No experimental confirmation available.;
DiseaseLissencephaly 3 (LIS3) [MIM:611603]: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. {ECO:0000269|PubMed:17584854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
InteractionQ9NQC7:CYLD; NbExp=6; IntAct=EBI-302552, EBI-2117940; P00533:EGFR; NbExp=3; IntAct=EBI-302552, EBI-297353;
PtmAcetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle progression or cell differentiation to intracellular trafficking and signaling (By similarity). {ECO:0000250}.
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|PubMed:19524510}.
PtmUndergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively. {ECO:0000250}.
SimilarityBelongs to the tubulin family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton.
SubunitDimer 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.
Tissue SpecificityExpressed at a high level in fetal brain. {ECO:0000269|PubMed:17584854}.
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