InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CEP152

Summary

InnateDB Protein

IDBP-230837.6

Last Modified

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

Gene Symbol

CEP152

Protein Name

centrosomal protein 152kDa

Synonyms

MCPH4; MCPH9; SCKL5;

Species

Homo sapiens

Ensembl Protein

ENSP00000382271

InnateDB Gene

IDBG-11247 (CEP152)

Protein Structure

UniProt Annotation

Function

Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive amplification of centrioles. {ECO:0000269PubMed:20852615, ECO:0000269PubMed:21059844, ECO:0000269PubMed:21131973}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:20598275, ECO:0000269PubMed:21059844, ECO:0000269PubMed:21131973, ECO:0000269PubMed:21983783}. Note=Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Localizes to the deuterosome.

Disease Associations

Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]: 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:20598275}. Note=The disease is caused by mutations affecting the gene represented in this entry.Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269PubMed:21131973}. 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 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019901	protein kinase binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0007099	centriole replication
GO:0030030	cell projection organization
GO:0051298	centrosome duplication
GO:0098535	de novo centriole assembly