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Aliases for CASC5 Gene

Aliases for CASC5 Gene

  • Cancer Susceptibility Candidate 5 2 3
  • Cancer/Testis Antigen 29 2 3 4
  • AF15Q14 3 4 6
  • Cancer Susceptibility Candidate Gene 5 Protein 3 4
  • ALL1-Fused Gene From Chromosome 15q14 Protein 3 4
  • Bub-Linking Kinetochore Protein 2 4
  • Kinetochore-Null Protein 1 3 4
  • KIAA1570 4 6
  • Blinkin 2 4
  • CT29 3 4
  • KNL1 3 4
  • D40 3 6
  • Protein Phosphatase 1, Regulatory Subunit 55 3
  • Blinkin, Bub-Linking Kinetochore Protein 3
  • Kinetochore Null 1 Homolog (C. Elegans) 2
  • Kinetochore Null 1 Homolog 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 55 2
  • Protein D40/AF15q14 4
  • Protein CASC5 3
  • PPP1R55 3
  • HSpc105 3
  • HKNL-1 3
  • MCPH4 6
  • Spc7 3

External Ids for CASC5 Gene

Previous GeneCards Identifiers for CASC5 Gene

  • GC15P038674
  • GC15P040886
  • GC15P017733

Summaries for CASC5 Gene

Entrez Gene Summary for CASC5 Gene

  • 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]

GeneCards Summary for CASC5 Gene

CASC5 (Cancer Susceptibility Candidate 5) is a Protein Coding gene. Diseases associated with CASC5 include microcephaly 4, primary, autosomal recessive and median neuropathy. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for CASC5 Gene

  • Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.

Gene Wiki entry for CASC5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASC5 Gene

Genomics for CASC5 Gene

Regulatory Elements for CASC5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CASC5 Gene

Start:
40,594,020 bp from pter
End:
40,664,342 bp from pter
Size:
70,323 bases
Orientation:
Plus strand

Genomic View for CASC5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CASC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASC5 Gene

Proteins for CASC5 Gene

  • Protein details for CASC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NG31-CASC5_HUMAN
    Recommended name:
    Protein CASC5
    Protein Accession:
    Q8NG31
    Secondary Accessions:
    • Q8NHE1
    • Q8WXA6
    • Q9HCK2
    • Q9NR92

    Protein attributes for CASC5 Gene

    Size:
    2342 amino acids
    Molecular mass:
    265391 Da
    Quaternary structure:
    • Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT.

    Three dimensional structures from OCA and Proteopedia for CASC5 Gene

    Alternative splice isoforms for CASC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASC5 Gene

Proteomics data for CASC5 Gene at MOPED

Post-translational modifications for CASC5 Gene

  • Ubiquitination at Lys202, Lys213, Lys246, Lys303, Lys467, Lys501, Lys643, Lys666, Lys680, Lys707, Lys726, Lys757, Lys777, Lys810, Lys846, Lys1072, Lys1165, Lys1214, Lys1229, Lys1240, Lys1285, Lys1295, Lys1481, and Lys1584
  • Modification sites at PhosphoSitePlus

Other Protein References for CASC5 Gene

No data available for DME Specific Peptides for CASC5 Gene

Domains for CASC5 Gene

Gene Families for CASC5 Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

Protein Domains for CASC5 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CASC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CASC5: view

No data available for UniProtKB/Swiss-Prot for CASC5 Gene

Function for CASC5 Gene

Molecular function for CASC5 Gene

UniProtKB/Swiss-Prot Function: Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore.

Gene Ontology (GO) - Molecular Function for CASC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15231748
genes like me logo Genes that share ontologies with CASC5: view
genes like me logo Genes that share phenotypes with CASC5: view

Animal Model Products

CRISPR Products

miRNA for CASC5 Gene

miRTarBase miRNAs that target CASC5

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CASC5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CASC5 Gene

Localization for CASC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASC5 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Weakly expressed in interphase nuclei. Expression increases from prophase to late anaphase, but greatly diminishes from the telophase and cytokinesis to early G1 phase of cell cycle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASC5 Gene COMPARTMENTS Subcellular localization image for CASC5 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for CASC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0001669 acrosomal vesicle IDA 15579588
GO:0005634 nucleus IDA 10980622
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with CASC5: view

Pathways for CASC5 Gene

genes like me logo Genes that share pathways with CASC5: view

Pathways by source for CASC5 Gene

Gene Ontology (GO) - Biological Process for CASC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0001675 acrosome assembly NAS 15579588
GO:0006334 nucleosome assembly TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0007264 small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with CASC5: view

Transcripts for CASC5 Gene

Unigene Clusters for CASC5 Gene

Cancer susceptibility candidate 5:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CASC5

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CASC5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASC5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: -
SP2: - -
SP3: -
SP4: -
SP5: -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CASC5 Gene

GeneLoc Exon Structure for
CASC5
ECgene alternative splicing isoforms for
CASC5

Expression for CASC5 Gene

mRNA expression in normal human tissues for CASC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASC5 Gene

This gene is overexpressed in Testis (16.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CASC5 Gene

SOURCE GeneReport for Unigene cluster for CASC5 Gene Hs.181855

mRNA Expression by UniProt/SwissProt for CASC5 Gene

Q8NG31-CASC5_HUMAN
Tissue specificity: Highly expressed in testis, where it is localized in germ cells, in particular in spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa. Detected in adult thymus, bone marrow, colon, small intestine, appendix and placenta, and in fetal liver and thymus.
genes like me logo Genes that share expressions with CASC5: view

In Situ Assay Products

Orthologs for CASC5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASC5 35
  • 98.78 (n)
  • 97.71 (a)
CASC5 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CASC5 35
  • 84.28 (n)
  • 71.87 (a)
dog
(Canis familiaris)
Mammalia CASC5 35
  • 84.56 (n)
  • 73.3 (a)
CASC5 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casc5 35
  • 77.63 (n)
  • 62.67 (a)
Casc5 16
Casc5 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASC5 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CASC5 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casc5 35
  • 77.89 (n)
  • 63.84 (a)
chicken
(Gallus gallus)
Aves CASC5 35
  • 55 (n)
  • 38.8 (a)
CASC5 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASC5 36
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii casc5 36
  • 18 (a)
OneToOne
Species with no ortholog for CASC5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASC5 Gene

ENSEMBL:
Gene Tree for CASC5 (if available)
TreeFam:
Gene Tree for CASC5 (if available)

Paralogs for CASC5 Gene

No data available for Paralogs for CASC5 Gene

Variants for CASC5 Gene

Sequence variations from dbSNP and Humsavar for CASC5 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs936580 -- 40,632,380(+) gaggc(A/G)ggagg intron-variant
rs2412541 Benign, - 40,621,642(+) ATTAT(G/T)CTAAA reference, missense
rs2412542 -- 40,655,505(+) agaat(C/T)gcttg intron-variant
rs2412543 -- 40,655,540(+) gagcc(A/G)agatt intron-variant
rs2412544 -- 40,657,328(+) TTTCA(C/T)TGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASC5 Gene

Variant ID Type Subtype PubMed ID
esv34145 CNV Loss 18971310
nsv832984 CNV Loss 17160897
dgv739e1 CNV Complex 17122850
nsv7263 OTHER Inversion 18451855
esv2135247 CNV Deletion 18987734
esv2749603 CNV Deletion 23290073
esv992789 CNV Deletion 20482838
nsv904099 CNV Loss 21882294

Relevant External Links for CASC5 Gene

HapMap Linkage Disequilibrium report
CASC5
Human Gene Mutation Database (HGMD)
CASC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASC5 Gene

Disorders for CASC5 Gene

(1) OMIM Diseases for CASC5 Gene (609173)

UniProtKB/Swiss-Prot

CASC5_HUMAN
  • Note=A chromosomal aberration involving CASC5 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A/MLL1. May give rise to a KMT2A/MLL1-CASC5 fusion protein.
  • Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:22983954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CASC5 Gene

(1) Novoseek inferred disease relationships for CASC5 Gene

Disease -log(P) Hits PubMed IDs
leukemia 40.4 1

Relevant External Links for CASC5

Genetic Association Database (GAD)
CASC5
genes like me logo Genes that share disorders with CASC5: view

Publications for CASC5 Gene

  1. AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14). (PMID: 10980622) Hayette S. … Rimokh R. (Oncogene 2000) 2 3 4 23
  2. A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. (PMID: 12618766) Chinwalla V. … Rowley J.D. (Oncogene 2003) 3 4 23
  3. Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14). (PMID: 12618768) Kuefer M.U. … Morris S.W. (Oncogene 2003) 3 4 23
  4. The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. (PMID: 15579588) Sasao T. … Takimoto M. (Reproduction 2004) 3 4 23
  5. KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates. (PMID: 18045986) Cheeseman I.M. … Desai A. (Mol. Biol. Cell 2008) 2 3 4

Products for CASC5 Gene

Sources for CASC5 Gene

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