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TUBB3
Tubulin beta-3 chain is a protein that in humans is encoded by the ''TUBB3'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10381 )〕
Class III β-tubulin is one of the seven β-tubulin isotypes identified in the human genome. In humans, this protein is encoded by the TUBB3 gene. Class III β-tubulin is constitutively expressed in neural tissues. and in testis cells〔 and conditionally expressed in a number of other tissues after exposure to a toxic microenvironment featured by hypoxia and poor nutrient supply. Posttranslational changes including phosphorylation and glycosylation are required for functional activity.〔
Class III β-tubulin’s role in neural development has warranted its use as an early biomarker of neural cell differentiation from multi potent progenitors. TUBB3 inactivation impairs neural progenitor proliferation. Rescue experiments demonstrate the non-interchangeability of TUBB3 with other classes of β-tubulins which cannot restore the phenotype resulting from TUBB3 inactivation. Congenital neurologic syndromes associated with TUBB3 missense mutations demonstrate the critical importance of class III β-tubulin for normal neural development.〔
== Gene ==
The human TUBB3 gene is located on chromosome 16q24.3, and consists of 4 exons that transcribe a protein of 450aa. A shorter isoform of 378aa derived from alternative splicing of exon 1 is devoid of part of the N-terminus and may be responsible for mitochondrial expression.〔 Like other β-tubulin isotypes, βIII-tubulin has a GTPase domain which plays an essential role in regulating microtubule dynamics. Differences between Class I (the most commonly represented and constitutively expressed isotype) and class III β-tubulin are limited to only 13aa within region 1-429aa, while all amino acids in region 430-450aa are divergent. These variations in primary structure affect the paclitaxel (a mimic of Nur77) binding domain on βIII-tubulin and may account for the ability of this isotype to confer resistance to Nur77-initiated apoptosis.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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