InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TUBB4A

Summary

InnateDB Protein

IDBP-21607.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TUBB4A

Protein Name

tubulin, beta 4A class IVa

Synonyms

beta-5; DYT4; TUBB4; TUBB5;

Species

Homo sapiens

Ensembl Protein

ENSP00000264071

InnateDB Gene

IDBG-21605 (TUBB4A)

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.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101]: A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. {ECO:0000269PubMed:23424103}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leukodystrophy, hypomyelinating, 6 (HLD) [MIM:612438]: A neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. {ECO:0000269PubMed:23582646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Major isotype in brain, where it represents 46% of all beta-tubulins. In the brain, highest expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low levels, if any, in other tissues. {ECO:0000269PubMed:20191564, ECO:0000269PubMed:23424103}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	46 [view]
Protein-Protein	45 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [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

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006184	GTP catabolic process
GO:0006457	protein folding
GO:0007017	microtubule-based process
GO:0044267	cellular protein metabolic process
GO:0051084	'de novo' posttranslational protein folding
GO:0051258	protein polymerization

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005874	microtubule
GO:0005929	cilium
GO:0033269	internode region of axon
GO:0042995	cell projection
GO:0043025	neuronal cell body
GO:0043209	myelin sheath
GO:0043234	protein complex

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