InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CEP135

Summary

InnateDB Protein

IDBP-368419.5

Last Modified

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

Gene Symbol

CEP135

Protein Name

centrosomal protein 135kDa

Synonyms

CEP4; KIAA0635; MCPH8;

Species

Homo sapiens

Ensembl Protein

ENSP00000412799

InnateDB Gene

IDBG-19914 (CEP135)

Protein Structure

UniProt Annotation

Function

Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. {ECO:0000269PubMed:17681131, ECO:0000269PubMed:18851962}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269PubMed:14654843, ECO:0000269PubMed:17681131}. Note=During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.

Disease Associations

Microcephaly 8, primary, autosomal recessive (MCPH8) [MIM:614673]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269PubMed:22521416}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.