InnateDB Protein
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IDBP-6487.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CASC5
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Protein Name
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cancer susceptibility candidate 5
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000335463
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InnateDB Gene
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IDBG-6485 (CASC5)
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Protein Structure
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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}.
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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.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
35
[view]
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Protein-Protein |
35
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NG31
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PhosphoSite |
PhosphoSite-Q8NG31
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
57082
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UniGene |
Hs.181855
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RefSeq |
NP_733468
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HUGO |
HGNC:24054
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OMIM |
609173
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CCDS |
CCDS42023
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HPRD |
10634
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IMGT |
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EMBL |
AB022190
AB046790
AC022405
AF173994
AF248041
AF461041
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GenPept |
AAF97513
AAL67803
AAM45143
BAB13396
BAC05691
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