Recombinant Human Tubulin beta chain (TUBB)

Function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

Subcellular Location

Cytoplasm, cytoskeleton

Disease Association

Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Skin creases, congenital symmetric circumferential, 1 (CSCSC1) : An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Ubiquitously expressed with highest levels in spleen, thymus and immature brain

Subunit

Heterodimer of alpha and beta chains (PubMed:26637975). 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 CIMAP3 (PubMed:20643351). Interacts with DIAPH1 (PubMed:23325789). Interacts with MX1 (By similarity). May interact with RNABP10 (By similarity). Interacts with CFAP157 (By similarity). Nascent tubulin polypeptide interacts (via beta-tubulin MREI motif) with TTC5/STRAP; this interaction results in tubulin mRNA-targeted degradation (PubMed:31727855)

• Lee M.G.-S. et al. Evolutionary history of a multigene family: an expressed human beta-tubulin gene and three processed pseudogenes. — Cell (1983)
• Hall J.L. et al. Identification of two human beta-tubulin isotypes. — Mol. Cell. Biol. (1983)
• Crabtree D.V. et al. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. — Bioorg. Med. Chem. (2001)
• Yu W. et al. PubMed: CI-60FC46SDV7UM1 (JUN-)
• Shiina S. et al. Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region. (SEP-)
• Shiina T. et al. Genome diversity in HLA: a new strategy for detection of genetic polymorphisms in expressed genes within the HLA class III and class I regions. (JUL-)
• Shichijo S. et al. Identification of immuno-peptidmics that are recognized by tumor-reactive CTL generated from TIL of colon cancer patients. (MAY-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)