testis-specific Y-encoded protein 1; cancer/testis antigen 78; CT78 (TSPY1, TSPY)
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Function
- may be involved in sperm differentiation & proliferation
- phosphorylated
Structure
- belongs to the nucleosome assembly protein (NAP) family
Compartment
- cytoplasm, nucleus
- predominantly cytoplasmic; also found in nucleus
Alternative splicing
named isoforms=2 additional isoforms seem to exist
Expression
- specifically expressed in testicular tissues
- isoform 1 & isoform 2 are expressed in spermatogonia & spermatocytes
- found in early testicular carcinoma in situ, spermatogonial cells in testicular tissues of 46,X,Y female & in prostate cancer cell lines
- detected in 22-week old testis induced by androgen in a prostate cancer cell line
Pathology
- may be associated with gonadoblastoma
- expression correlates with testicular seminoma & prostate carcinoma
- lies in a chromosomal region that is frequently deleted in infertile males
Polymorphism
- variants Val-Glu-Val-Val-Ala-Glu-79 ins & 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
- maps to a tandemly repeated region on chromosome Yp11;
- at least one copy is reported originating from Yq
- the gene is thought to be present with an inter-individual variation in copy number & between 20 & 60 copies per Y chromosome are expected
- 35 tandemly repeated gene copies on Yp11 originating from one individual[2]
More general terms
More specific terms
- testis-specific Y-encoded-like protein 1 (TSPY-like 1, TSPYL1, TSPYL)
- testis-specific Y-encoded-like protein 3; TSPY-like 3 (TSPYL3, TSPY26P)
- testis-specific Y-encoded-like protein 4 (TSPY-like 4) (TSPYL4 KIAA0721)
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q01534.html
- ↑ 2.0 2.1 Skaletsky H The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003 Jun 19;423(6942):825-37. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12815422
Database
- UniProt: http://www.uniprot.org/uniprot/Q01534.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=100289
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:100289
- OMIM: https://mirror.omim.org/entry/424500
- OMIM: https://mirror.omim.org/entry/480100