Homo sapiens Gene: CASC5
Summary
InnateDB Gene IDBG-6485.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CASC5
Gene Name cancer susceptibility candidate 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000137812
Encoded Proteins
cancer susceptibility candidate 5
cancer susceptibility candidate 5
cancer susceptibility candidate 5
cancer susceptibility candidate 5
cancer susceptibility candidate 5
cancer susceptibility candidate 5
cancer susceptibility candidate 5
cancer susceptibility candidate 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:40594020-40664342
Strand Forward strand
Band q15.1
Transcripts
ENST00000346991 ENSP00000335463
ENST00000399668 ENSP00000382576
ENST00000528975 ENSP00000454087
ENST00000527044 ENSP00000432654
ENST00000532056 ENSP00000454002
ENST00000533001
ENST00000534204 ENSP00000453857
ENST00000526913 ENSP00000432565
ENST00000532406 ENSP00000436851
ENST00000528967
ENST00000532347
ENST00000531626
ENST00000614337
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
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
TSLP pathway
REACTOME
Deposition of new CENPA-containing nucleosomes at the centromere pathway
Resolution of Sister Chromatid Cohesion pathway
Mitotic Prometaphase pathway
Separation of Sister Chromatids pathway
Chromosome Maintenance pathway
Nucleosome assembly pathway
Cell Cycle pathway
M Phase pathway
Mitotic Anaphase pathway
Cell Cycle, Mitotic pathway
Mitotic Metaphase and Anaphase pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_144508 NM_170589
HUGO
OMIM
CCDS CCDS42023 CCDS42024
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas