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http://www.biopax.org/relea...
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Testis-specific Y-encoded protein 1
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TSPY1_HUMAN
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CT78, Cancer/testis antigen 78
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FUNCTION: May be involved in sperm differentiation and proliferation. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Also found in nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; Synonyms=Short, TSPY-S; IsoId=Q01534-1; Sequence=Displayed; Name=2; Synonyms=Long, TSPY-L; IsoId=Q01534-2; Sequence=VSP_008012; TISSUE SPECIFICITY: Specifically expressed in testicular tissues. Isoform 1 and isoform 2 are expressed in spermatogonia and spermatocytes. Found in early testicular carcinoma in situ, spermatogonial cells in testicular tissues of 46,X,Y female and in prostate cancer cell lines. DEVELOPMENTAL STAGE: Detected in 22-week old testis. INDUCTION: Up-regulated by androgen in a prostate cancer cell line. PTM: Phosphorylated. POLYMORPHISM: Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are shown to be present in a number of TSPY1 copies of the Yp11 loci. Variant Arg-195 is shown to be present at least in one TSPY1 copy of the Yq locus. POLYMORPHISM: Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual. DISEASE: Note=TSPY is located in the gonadoblastoma critical region and is preferentially expressed in tumor germ cells of gonadoblastoma specimens. Expression also correlates with testicular seminoma and tumorigenesis of the prostate gland. SIMILARITY: Belongs to the nucleosome assembly protein (NAP) family. SEQUENCE CAUTION: Sequence=AAA36570.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA61238.1; Type=Miscellaneous discrepancy; Note=Probable unspliced transcript; Sequence=CAA29640.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin inserted in the coding sequence; Sequence=X74029; Type=Frameshift; Positions=Several; GENE SYNONYMS: TSPY. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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