InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TUBB3

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.

Experimentally validated
Total	90 [view]
Protein-Protein	89 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0042277	peptide binding

Biological Process

GO:0006184	GTP catabolic process
GO:0006457	protein folding
GO:0007017	microtubule-based process
GO:0007067	mitotic nuclear division
GO:0007411	axon guidance
GO:0030182	neuron differentiation
GO:0044267	cellular protein metabolic process
GO:0051084	'de novo' posttranslational protein folding
GO:0051258	protein polymerization

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005874	microtubule
GO:0015630	microtubule cytoskeleton
GO:0030424	axon
GO:0030425	dendrite
GO:0043025	neuronal cell body
GO:0043234	protein complex
GO:0071944	cell periphery

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

PFAM

PF00091
PF03953
PF10644

PRINTS

PR01161
PR01162
PR01163
PR01164
PR01224
PR01519

PIRSF

SMART

SM00864
SM00865

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt