InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TUBA8

Summary

InnateDB Protein

IDBP-1130.6

Last Modified

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

Gene Symbol

TUBA8

Protein Name

tubulin, alpha 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000318575

InnateDB Gene

IDBG-1124 (TUBA8)

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

Polymicrogyria, with optic nerve hypoplasia (PMGONH) [MIM:613180]: A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. {ECO:0000269PubMed:19896110}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Preferentially expressed in heart, skeletal muscle and testis. Expressed at low levels in the developing brain. {ECO:0000269PubMed:20466094}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	17 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005200	structural constituent of cytoskeleton
GO:0005525	GTP binding

Biological Process

GO:0006184	GTP catabolic process
GO:0007017	microtubule-based process
GO:0051258	protein polymerization

Cellular Component

GO:0005737	cytoplasm
GO:0005874	microtubule
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR000217 Tubulin
IPR002452 Alpha tubulin
IPR002453 Beta tubulin
IPR002967 Delta tubulin
IPR003008 Tubulin/FtsZ, GTPase domain
IPR004057 Epsilon tubulin
IPR008280 Tubulin/FtsZ, C-terminal
IPR018316 Tubulin/FtsZ, 2-layer sandwich domain

PFAM

PF00091
PF03953

PRINTS

PR01161
PR01162
PR01163
PR01224
PR01519

PIRSF

SMART

SM00864
SM00865

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt