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FLASH GENE

Symbol

CASC5

contributors: mct - updated : 18-05-2011

HGNC name	cancer susceptibility candidate 5
HGNC id	24054

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCPH4 microcephaly 4
Location	15q15.1      Physical location : 40.886.446 - 40.954.881
Synonym name	AF15Q14 protein
	cancer/testis antigen 29
	kinetochore null 1 homolog (C. elegans)
	blinkin, bub-linking kinetochore protein
	ALL1-fused gene from chromosome 15q142
	Blinkin
Synonym symbol(s)	D40, AF15Q14, KIAA1570, CT29, hKNL-1, KNL1, hSpc105

DNA

TYPE	functioning gene
STRUCTURE	68.44 kb     27 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_170589 27 splicing 7685 NP_733468 265.2 2342 - 2008 18045986 NM_144508 26 splicing 7607 NP_653091 262.4 2316 - 2008 18045986 NM_020380 - splicing 5413 NP_065113 195.3 1746 - 2008 18045986

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     predominantly Lymphoid/Immune lymph node       highly Reproductive male system testis     predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatid Reproductive spermatocyte

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

embryo, fetal

Text	stem cells
	ubiquitous in fetal tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	distinct and essential binding domains for BUB1 and BUB1B (here designated Bubs) at the N terminus
	a conserved motif directly interacting with and targeting protein phosphatase 1 (PP1) to the outer kinetochore (
	a C terminal bipartite nuclear localization signal, with essential binding domains for ZWINT and NSL1

HOMOLOGY

interspecies	homolog to rattus Rad51_predicted
	homolog to murine Casc5

Homologene

FAMILY

Spc105/Spc7/KNL-1 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,kinetochore
text	acrosome

basic FUNCTION	playing in important roles in spermatogenesis, especially in the formation and maintenance of the acrosome
	may function normally to suppress cell growth and/or enhance maturation
	centromeric form may be the base to anchor the MIS12 core complex that is enriched with coiled coils and extends to outer ZWINT during mitosis
	may be the center of the network for generating kinetochore-based checkpoint signaling
	CASC5 and CENPK, a subunit of a constitutively centromere-associated complex, coordinately direct NDC80 complex localization and kinetochore assembly
	mixed-lineage leukemia (MLL) fusion partner and a kinetochore component

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

NDC80, MIS12, and CASC5 complexes form the core of the KMN network

INTERACTION

DNA

RNA

small molecule

protein	directly links spindle checkpoint proteins BUB1B and BUB1 to kinetochores and is required for spindle checkpoint and chromosome alignment
	directly binds to several structural and regulatory proteins

cell & other

REGULATION

Other

phosphorylation by Aurora B disrupts the CASC5-PP1 interaction

ASSOCIATED DISORDERS

corresponding disease(s)

MCPH4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     fused to MLL by t(11;15) (q23;q14) in acute myeloid leukemia tumoral     --over   in lung cancer of smockers

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS