protein CASC5 (cancer susceptibility candidate gene 5 protein, ALL1-fused gene from chromosome 15q14, AF15q14, D40/AF15q14 protein, CASC5, KIAA1570)

Function

• component of the MIS12 complex
• interacts with DSN1 & MIS12

Compartment

nucleus

Alternative splicing

named isoforms=4

Expression

• highly expressed in testis
• localized in germ cells, in particular in spermatocytes & in the pre-acrosome of round spermatids
• detected in the acrosome of ejaculated spermatozoa
• detected in adult thymus, bone marrow, colon, small intestine, appendix & placenta, & in fetal liver & thymus

Pathology

• chromosomal translocation t(11;15)(q23;q14) involving CASC5 with MLL/HRX is associated with acute myeloblastic leukemia (AML)
• translocation may give rise to a MLL-CASC5 fusion protein

More general terms

• nuclear protein
• phosphoprotein

Component of

• MIS12 complex

Database

• UniProt: http://www.uniprot.org/uniprot/Q8NG31.html