Cancer Susceptibility Candidate 5 (CASC5)

AF15Q14; D40; CT29; hKNL-1; KNL1; hSpc105; Cancer/Testis Antigen 29; Kinetochore Null 1 Homolog ; Blinkin,Bub-Linking Kinetochore Protein

SPN	R539
HGNC	24054
MGI	1923714
PubMed	22983954
RGD	1307498
UniProt	Q8NG31
Wiki	CASC5

The deduced 1,833-amino acid protein has a calculated molecular mass of 206 kD. AF15q14 contains a C-terminal bipartite nuclear localization signal. Northern blot analysis of HeLa cells detected a transcript of about 8.5 kb. RNA dot blot analysis of adult tissues found AF15q14 expression restricted to thymus, testis, and bone marrow. Expression was ubiquitous in fetal tissues.

D40 expression was observed more frequently in poorly differentiated tumors than in well or moderately differentiated ones, and D40 expression was higher in primary lung tumors from patients who smoked than in those from nonsmokers.Expression was highest in testis, lower in placenta, and very low or undetectable in all other tissues tested.

Reference

"AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)."
Oncogene 19:4446-4450(2000) [PubMed] [Europe PMC] [Abstract]

"Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancer of smokers."
Br. J. Cancer 86:1757-1762(2002) [PubMed] [Europe PMC] [Abstract]

"Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14)."
Oncogene 22:1418-1424(2003) [PubMed] [Europe PMC] [Abstract]

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]

"A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15."
Oncogene 22:1400-1410(2003) [PubMed] [Europe PMC] [Abstract]

"A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1."
Nat. Cell Biol. 6:1135-1141(2004) [PubMed] [Europe PMC] [Abstract]

"The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa."
Reproduction 128:709-716(2004) [PubMed] [Europe PMC] [Abstract]

"Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1."
Dev. Cell 13:663-676(2007) [PubMed] [Europe PMC] [Abstract]

"KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates."
Mol. Biol. Cell 19:587-594(2008) [PubMed] [Europe PMC] [Abstract]

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Protein architecture of the human kinetochore microtubule attachment site."
Cell 137:672-684(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]

"Kinetochore KMN network gene CASC5 mutated in primary microcephaly."
Hum. Mol. Genet. 21:5306-5317(2012) [PubMed] [Europe PMC] [Abstract]