Homo sapiens Protein: TUBB3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-48632.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | TUBB3 | ||||||||||||||||||||||
Protein Name | tubulin, beta 3 class III | ||||||||||||||||||||||
Synonyms | beta-4; CDCBM; CDCBM1; CFEOM3; CFEOM3A; FEOM3; TUBB4; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000320295 | ||||||||||||||||||||||
InnateDB Gene | IDBG-547240 (TUBB3) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Tubulin 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. TUBB3 plays a critical role in proper axon guidance and mantainance. {ECO:0000269PubMed:20074521}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton. | ||||||||||||||||||||||
Disease Associations | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) [MIM:600638]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. {ECO:0000269PubMed:20074521}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. {ECO:0000269PubMed:20829227}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues. {ECO:0000269PubMed:14736079, ECO:0000269PubMed:20191564}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 90 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000217
Tubulin IPR002452 Alpha tubulin IPR002453 Beta tubulin IPR002454 Gamma tubulin IPR002967 Delta tubulin IPR003008 Tubulin/FtsZ, GTPase domain IPR004057 Epsilon tubulin IPR008280 Tubulin/FtsZ, C-terminal IPR018316 Tubulin/FtsZ, 2-layer sandwich domain IPR019605 Misato Segment II tubulin-like domain |
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PFAM |
PF00091
PF03953 PF10644 |
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PRINTS |
PR01161
PR01162 PR01163 PR01164 PR01224 PR01519 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00864
SM00865 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13509 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13509 | ||||||||||||||||||||||
TrEMBL | Q9BV28 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 10381 | ||||||||||||||||||||||
UniGene | Hs.511743 | ||||||||||||||||||||||
RefSeq | NP_006077 | ||||||||||||||||||||||
HUGO | HGNC:20772 | ||||||||||||||||||||||
OMIM | 602661 | ||||||||||||||||||||||
CCDS | CCDS10988 | ||||||||||||||||||||||
HPRD | 04044 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC092143 AF427491 AK122757 AK292219 BC000748 BC001678 BC003021 BC047518 CH471184 U47634 | ||||||||||||||||||||||
GenPept | AAC52035 AAH00748 AAH01678 AAH03021 AAH47518 AAL28094 BAF84908 BAG53710 EAW66670 EAW66674 | ||||||||||||||||||||||