InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CENPJ

Summary

InnateDB Protein

IDBP-16358.6

Last Modified

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

Gene Symbol

CENPJ

Protein Name

centromere protein J

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000371308

InnateDB Gene

IDBG-16356 (CENPJ)

Protein Structure

UniProt Annotation

Function

Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. {ECO:0000269PubMed:15047868, ECO:0000269PubMed:17681131, ECO:0000269PubMed:20531387}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localized within the center of microtubule asters. During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.

Disease Associations

Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]: 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:15793586}. Note=The disease is caused by mutations affecting the gene represented in this entry.Seckel syndrome 4 (SCKL4) [MIM:613676]: 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:20522431}. 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 36 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	36 [view]
Protein-Protein	36 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015631	tubulin binding
GO:0019901	protein kinase binding
GO:0019904	protein domain specific binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0007020	microtubule nucleation
GO:0007099	centriole replication
GO:0046599	regulation of centriole replication
GO:0046785	microtubule polymerization
GO:0051301	cell division