CASC5

GENE INFORMATION

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Gene name

CASC5 (HGNC Symbol)

Synonyms

AF15Q14, CT29, D40, hKNL-1, hSpc105, KNL1, PPP1R55, Spc7

Description

cancer susceptibility candidate 5 (HGNC Symbol)

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]

Chromosome

15 (Chromosome progress)

Cytoband

q15.1

Chromosome location (bp)

40886218 - 40956540

Ensembl

ENSG00000137812 (version 73.37)

Entrez gene

57082

UniProt

Q8NG31 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NG31

Antibodypedia

CASC5 antibodies
 

PROTEIN VIEW

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CASC5-001
 
CASC5-002
 
CASC5-003
 
CASC5-005
 
CASC5-006
 
CASC5-007
 
CASC5-008
 
CASC5-013
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CASC5-001 ENSP00000382576
ENST00000399668
Q8NG31
Show all »
Show » Show » 2316 262.6 No 0
CASC5-002 ENSP00000335463
ENST00000346991
Q8NG31
Show all »
Show » Show » 2342 265.4 No 0
CASC5-003 ENSP00000432654
ENST00000527044
E9PPJ1
Show all »
Show » 113 13.2 No 0
CASC5-005 ENSP00000454087
ENST00000528975
Show » 7 0.9 No 0
CASC5-006 ENSP00000454002
ENST00000532056
Show » 10 1.3 No 0
CASC5-007 ENSP00000453857
ENST00000534204
H0YN41
Show all »
Show » 80 9.2 No 0
CASC5-008 ENSP00000436851
ENST00000532406
Show » 193 22.3 No 0
CASC5-013 ENSP00000432565
ENST00000526913
Show » 1361 155 No 0