TSPY1

TSPY1
Identifiers
Aliases	TSPY1, CT78, DYS14, TSPY, pJA923, testis specific protein, Y-linked 1, testis specific protein Y-linked 1
External IDs	OMIM: 480100; HomoloGene: 87844; GeneCards: TSPY1; OMA:TSPY1 - orthologs
Gene location (Human) Chr. Y chromosome (human)[1] Band Yp11.2 Start 9,466,955 bp[1] End 9,469,749 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle gonad right testis left testis n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding molecular function Cellular component cytoplasm nucleus cellular component Biological process multicellular organism development nucleosome assembly cell differentiation cell population proliferation sex differentiation spermatogenesis gonadal mesoderm development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7258 n/a Ensembl ENSG00000258992 n/a UniProt Q01534 n/a RefSeq (mRNA) NM_003308 NM_001197242 NM_001320964 n/a RefSeq (protein) NP_001184171 NP_001307893 NP_003299 n/a Location (UCSC) Chr Y: 9.47 – 9.47 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Testis-specific Y-encoded protein 1 is a protein that in humans is encoded by the TSPY1 gene.^[3]

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mice. Two transcript variants encoding different isoforms have been found for this gene.^[4] The protein is strongly overexpressed in gonadoblastoma.^[5]

• Chandley AC, Cooke HJ (1995). "Human male fertility--Y-linked genes and spermatogenesis". Hum. Mol. Genet. 3. Spec No: 1449–52. doi:10.1093/hmg/3.suppl_1.1449. PMID 7849736.
• Vogel T, Schmidtke J (1998). "Structure and function of TSPY, the Y-chromosome gene coding for the "testis-specific protein"". Cytogenet. Cell Genet. 80 (1–4): 209–13. doi:10.1159/000014982. PMID 9678360. S2CID 46875273.
• Lau YF (2000). "Gonadoblastoma, testicular and prostate cancers, and the TSPY gene". Am. J. Hum. Genet. 64 (4): 921–7. doi:10.1086/302353. PMC 1377814. PMID 10090875.
• Zhang JS, Yang-Feng TL, Muller U, et al. (1993). "Molecular isolation and characterization of an expressed gene from the human Y chromosome". Hum. Mol. Genet. 1 (9): 717–26. doi:10.1093/hmg/1.9.717. PMID 1284595.
• Arnemann J, Jakubiczka S, Thüring S, Schmidtke J (1992). "Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY". Genomics. 11 (1): 108–14. doi:10.1016/0888-7543(91)90107-P. PMID 1765369.
• Arnemann J, Epplen JT, Cooke HJ, et al. (1988). "A human Y-chromosomal DNA sequence expressed in testicular tissue". Nucleic Acids Res. 15 (21): 8713–24. doi:10.1093/nar/15.21.8713. PMC 306400. PMID 3479749.
• Manz E, Schnieders F, Brechlin AM, Schmidtke J (1993). "TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome". Genomics. 17 (3): 726–31. doi:10.1006/geno.1993.1393. PMID 8244388.
• Kim HS, Takenaka O (1996). "A comparison of TSPY genes from Y-chromosomal DNA of the great apes and humans: sequence, evolution, and phylogeny". Am. J. Phys. Anthropol. 100 (3): 301–9. doi:10.1002/(SICI)1096-8644(199607)100:3<301::AID-AJPA1>3.0.CO;2-X. PMID 8798990.
• Vogt PH, Affara N, Davey P, et al. (1998). "Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997". Cytogenet. Cell Genet. 79 (1–2): 1–20. doi:10.1159/000134680. PMID 9533010.
• Vogel T, Dittrich O, Mehraein Y, et al. (1998). "Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family". Cytogenet. Cell Genet. 81 (3–4): 265–70. doi:10.1159/000015042. PMID 9730615. S2CID 46829106.
• Lau YF, Zhang J (2000). "Expression analysis of thirty one Y chromosome genes in human prostate cancer". Mol. Carcinog. 27 (4): 308–21. doi:10.1002/(SICI)1098-2744(200004)27:4<308::AID-MC9>3.0.CO;2-R. PMID 10747295. S2CID 23677925.
• Ratti A, Stuppia L, Gatta V, et al. (2000). "Characterization of a new TSPY gene family member in Yq (TSPYq1)". Cytogenet. Cell Genet. 88 (1–2): 159–62. doi:10.1159/000015510. PMID 10773691. S2CID 20806022.
• Dechend F, Williams G, Skawran B, et al. (2001). "TSPY variants in six loci on the human Y chromosome". Cytogenet. Cell Genet. 91 (1–4): 67–71. doi:10.1159/000056821. PMID 11173833. S2CID 21757455.
• Lau Y, Chou P, Iezzoni J, et al. (2001). "Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma". Cytogenet. Cell Genet. 91 (1–4): 160–4. doi:10.1159/000056838. PMID 11173850. S2CID 34017469.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Krick R, Jakubiczka S, Arnemann J (2003). "Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes". Gene. 302 (1–2): 11–9. doi:10.1016/S0378-1119(02)01104-6. PMID 12527192.

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