InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CASC5

Summary

InnateDB Protein

IDBP-6487.6

Last Modified

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

Gene Symbol

CASC5

Protein Name

cancer susceptibility candidate 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000335463

InnateDB Gene

IDBG-6485 (CASC5)

Protein Structure

UniProt Annotation

Function

Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore. {ECO:0000269PubMed:15502821, ECO:0000269PubMed:17981135, ECO:0000269PubMed:18045986}.

Subcellular Localization

Nucleus. Chromosome, centromere, kinetochore. Note=Weakly expressed in interphase nuclei. Expression increases from prophase to late anaphase, but greatly diminishes from the telophase and cytokinesis to early G1 phase of cell cycle.

Disease Associations

Note=A chromosomal aberration involving CASC5 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A/MLL1. May give rise to a KMT2A/MLL1- CASC5 fusion protein.Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321]: 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:22983954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in testis, where it is localized in germ cells, in particular in spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa. Detected in adult thymus, bone marrow, colon, small intestine, appendix and placenta, and in fetal liver and thymus. {ECO:0000269PubMed:10980622, ECO:0000269PubMed:12087463, ECO:0000269PubMed:12618768}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [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

Biological Process

GO:0000278	mitotic cell cycle
GO:0001675	acrosome assembly
GO:0006334	nucleosome assembly
GO:0007067	mitotic nuclear division
GO:0008608	attachment of spindle microtubules to kinetochore
GO:0010923	negative regulation of phosphatase activity
GO:0034080	centromere-specific nucleosome assembly
GO:0034501	protein localization to kinetochore
GO:0071173	spindle assembly checkpoint

Cellular Component

GO:0000777	condensed chromosome kinetochore
GO:0001669	acrosomal vesicle
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome