SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000531 
UniProt Accession
Theoretical PI
5.3  
Molecular Weight
265391 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
CASC5 
Gene Synonyms/Alias
KIAA1570, KNL1 
Protein Name
Protein CASC5 
Protein Synonyms/Alias
ALL1-fused gene from chromosome 15q14 protein;AF15q14 Bub-linking kinetochore protein;Blinkin Cancer susceptibility candidate gene 5 protein; Cancer/testis antigen 29;CT29 Kinetochore-null protein 1; Protein D40/AF15q14; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:15;40886218-40956540;1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
The expression levels of D40 mRNA and proteins decrease according to the degree of spermatogenesis impairment in male infertile patients. 
The information of related literatures
1. T. Sasao, M. Takimoto, N. Itoh, T. Maeda, T. Tanaka, N. Masumori and T. Tsukamoto (2011) Testis cancer gene D40 expression and its relationship with clinicopathological features in infertile men. Int J Urol 18(2): 175-9. 

Abstract
We previously identified a novel human cancer/testis gene, D40, which is dominantly expressed in testicular germ cells, various cancer cell lines and primary human tumors. The expression of D40 mRNA and proteins in various testicular tissues was quantified using the conventional reverse transcription polymerase chain reaction (RT-PCR), real-time quantitative RT-PCR and western blot analysis. The relationship between levels of D40 expression, serum follicle stimulating hormone (FSH) level and Johnsen's score was examined. D40 mRNA expression was observed in the testes of infertile men, except those with Sertoli-cell-only syndrome or Klinefelter's syndrome. The quantity of D40 mRNA and protein was correlated with Johnsen's score and inversely correlated with serum FSH level. The present results show that the expression levels of D40 mRNA and proteins decrease according to the degree of spermatogenesis impairment in male infertile patients. PMID: [21272090] 

2. T. Sasao, N. Itoh, H. Takano, S. Watanabe, G. Wei, T. Tsukamoto, N. Kuzumaki and M. Takimoto (2004) The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. Reproduction 128(6): 709-16. 

Abstract
We have previously identified and cloned a human gene, D40, that is preferentially expressed in testis among normal organs, while it is widely expressed in various human tumor cell lines and primary tumors derived from different organs. In this report, we have examined the expression and localization of this protein in human testis with an antibody specific to D40 protein. In Western analyses, the anti-D40 antibody recognized a major band with a molecular mass of 300 kDa and a minor band of 250 kDa. These bands were not observed in the testis lysates from patients with Sertoli-cell-only syndrome and with Kleinfelter syndrome, who lack germ cells of the testis, indicating that D40 protein is expressed in the germ cells of normal testis. Immunohistochemical studies have revealed that D40 protein is highly expressed in spermatocytes and in the pre-acrosome of round spermatids. In the acrosome, D40 protein expression is observed not inside but outside the acrosome membrane. This is consistent with the finding that the amino-acid sequence at the amino terminal of the D40 protein lacks a hydrophobic signal peptide that is required for proteins to translocate to the membrane. Expression of D40 protein is observed in the acrosome of ejaculated spermatozoa as well, although the level is low compared with that in the pre-acrosome of spermatids. These results suggest that D40 protein plays important roles in spermatogenesis, especially in the formation and maintenance of the acrosome. PMID: [15579588] 

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Figures for illustrating the function of this protein/gene
Ref: T. Sasao, N. Itoh, H. Takano, S. Watanabe, G. Wei, T. Tsukamoto, N. Kuzumaki and M. Takimoto (2004) The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. Reproduction 128(6): 709-16. PMID: [15579588]
Ref: T. Sasao, N. Itoh, H. Takano, S. Watanabe, G. Wei, T. Tsukamoto, N. Kuzumaki and M. Takimoto (2004) The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. Reproduction 128(6): 709-16. PMID: [15579588]
Ref: T. Sasao, N. Itoh, H. Takano, S. Watanabe, G. Wei, T. Tsukamoto, N. Kuzumaki and M. Takimoto (2004) The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. Reproduction 128(6): 709-16. PMID: [15579588]
Function
Performs two crucial functions during mitosis: it isessential for spindle-assembly checkpoint signaling and forcorrect chromosome alignment. Required for attachment of thekinetochores to the spindle microtubules. Directly links BUB1 andBUB1B to kinetochores. Part of the MIS12 complex, which may befundamental for kinetochore formation and proper chromosomesegregation during mitosis. Acts in coordination with CENPK torecruit the NDC80 complex to the outer kinetochore. 
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Subcellular Location
Nucleus. Chromosome, centromere,kinetochore. Note=Weakly expressed in interphase nuclei.Expression increases from prophase to late anaphase, but greatlydiminishes from the telophase and cytokinesis to early G1 phase ofcell cycle. 
Tissue Specificity
Highly expressed in testis, where it islocalized in germ cells, in particular in spermatocytes and in thepre-acrosome of round spermatids. Detected in the acrosome ofejaculated spermatozoa. Detected in adult thymus, bone marrow,colon, small intestine, appendix and placenta, and in fetal liverand thymus. 
Gene Ontology
GO IDGO termEvidence
GO:0001669 C:acrosomal vesicle IDA:UniProtKB.
GO:0000777 C:condensed chromosome kinetochore IEA:UniProtKB-SubCell.
GO:0005829 C:cytosol TAS:Reactome.
GO:0005654 C:nucleoplasm TAS:Reactome.
GO:0001675 P:acrosome assembly NAS:UniProtKB.
GO:0008608 P:attachment of spindle microtubules to kinetochore IDA:UniProtKB.
GO:0051301 P:cell division IEA:UniProtKB-KW.
GO:0034080 P:CenH3-containing nucleosome assembly at centromere TAS:Reactome.
GO:0000236 P:mitotic prometaphase TAS:Reactome.
GO:0010923 P:negative regulation of phosphatase activity IDA:UniProtKB.
GO:0071173 P:spindle assembly checkpoint IDA:UniProtKB.
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Interpro
Pfam
SMART
PROSITE
PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1   2342       Protein CASC5.
                             /FTId=PRO_0000089327.
REPEAT      885    989       1.
REPEAT     1099   1201       2.
REGION        1    728       Interaction with BUB1 and BUB1B.
REGION      855   1201       2 X 104 AA approximate repeats.
REGION     1834   2316       Necessary for kinetochore localization
                             and for interaction with NSL1 and DSN1.
COILED     1942   2133       Potential.
MOTIF      1789   1803       Nuclear localization signal (Potential).
SITE       1818   1819       Breakpoint for translocation to form MLL-
                             CASC5.
MOD_RES      32     32       Phosphoserine.
MOD_RES      60     60       Phosphoserine.
MOD_RES     505    505       Phosphoserine.
MOD_RES     513    513       Phosphothreonine.
MOD_RES     539    539       Phosphothreonine.
MOD_RES     578    578       Phosphoserine.
MOD_RES     601    601       Phosphothreonine.
MOD_RES     682    682       Phosphoserine.
MOD_RES     765    765       Phosphoserine.
MOD_RES     767    767       Phosphoserine.
MOD_RES     954    954       Phosphothreonine.
MOD_RES     956    956       Phosphoserine.
MOD_RES    1039   1039       Phosphoserine.
MOD_RES    1042   1042       Phosphothreonine.
MOD_RES    1076   1076       Phosphoserine.
MOD_RES    1232   1232       Phosphoserine.
MOD_RES    1720   1720       Phosphoserine.
MOD_RES    1773   1773       Phosphoserine.
MOD_RES    1845   1845       Phosphoserine.
MOD_RES    1869   1869       Phosphoserine.
MOD_RES    1879   1879       Phosphothreonine.
VAR_SEQ      84    109       Missing (in isoform 2, isoform 3 and
                             isoform 4).
                             /FTId=VSP_013795.
VAR_SEQ    1764   1772       LIETYQKEI -> VGTRRRRYS (in isoform 3).
                             /FTId=VSP_013796.
VAR_SEQ    1773   2342       Missing (in isoform 3).
                             /FTId=VSP_013797.
VAR_SEQ    1819   1859       IFDHHTEEDIDKSANSVLIKNLSRTPSSCSSSLDSIKADGT
                             -> VSSVLNQRMFLNFGFCFVFLNCGYSQILILVSGRQKII
                             IST (in isoform 4).
                             /FTId=VSP_018524.
VAR_SEQ    1860   2342       Missing (in isoform 4).
                             /FTId=VSP_018525.
VARIANT      43     43       R -> T (in dbSNP:rs7177192).
                             /FTId=VAR_026428.
VARIANT      70     70       T -> A (in dbSNP:rs16970874).
                             /FTId=VAR_026429.
VARIANT     113    113       T -> A (in dbSNP:rs12911738).
                             /FTId=VAR_026430.
VARIANT     177    177       M -> V (in dbSNP:rs35146555).
                             /FTId=VAR_061568.
VARIANT     486    486       A -> S (in dbSNP:rs2412541).
                             /FTId=VAR_026431.
VARIANT     598    598       M -> T (in dbSNP:rs11858113).
                             /FTId=VAR_054342.
VARIANT     936    936       R -> G (in dbSNP:rs8040502).
                             /FTId=VAR_026432.
VARIANT    1190   1190       L -> V (in dbSNP:rs58614880).
                             /FTId=VAR_061569.
VARIANT    1285   1285       K -> E (in dbSNP:rs17747633).
                             /FTId=VAR_026433.
VARIANT    1473   1473       T -> A (in dbSNP:rs16970911).
                             /FTId=VAR_026434.
VARIANT    2338   2338       C -> Y (in dbSNP:rs61164860).
                             /FTId=VAR_061570.
CONFLICT     37     37       L -> H (in Ref. 3; AAM45143).
CONFLICT   1332   1332       P -> A (in Ref. 2; BAC05691).
CONFLICT   1357   1357       N -> H (in Ref. 2; BAC05691).
CONFLICT   1756   1756       N -> Y (in Ref. 2; BAC05691).
HELIX       205    211
HELIX       241    250
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Nucleotide Sequence
Length: 5925 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 2342 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
Other Protein-Protein interaction resources
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