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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
General
nuclear protein
phosphoprotein
Properties
SIZE: MW = 265 kD
entity length = 2342 aa
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S32}
Ser phosphorylation site {S60}
Ser phosphorylation site {S765}
Ser phosphorylation site {S767}
domain {855-1201}
MOTIF: consensus repeat {885-989}
Ser phosphorylation site {S956}
Ser phosphorylation site {S1039}
Thr phosphorylation site {T1042}
Ser phosphorylation site {S1076}
consensus repeat {1099-1201}
Ser phosphorylation site {S1773}
nuclear translocation signal {1789-1803}
Breakpoint {1818-1819}
coiled coil {1942-2133}
Database Correlations
UniProt Q8NG31
References
- UniProt :accession Q8NG31
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/Genes/AF15q14ID318.html