Protein-coding gene in humans
TSPY1 |
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Identifiers |
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Aliases | TSPY1, CT78, DYS14, TSPY, pJA923, testis specific protein, Y-linked 1, testis specific protein Y-linked 1 |
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External IDs | OMIM: 480100; HomoloGene: 87844; GeneCards: TSPY1; OMA:TSPY1 - orthologs |
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Gene location (Human) |
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![Y chromosome (human)](//upload.wikimedia.org/wikipedia/commons/thumb/0/04/Ideogram_human_chromosome_Y.svg/300px-Ideogram_human_chromosome_Y.svg.png) | Chr. | Y chromosome (human)[1] |
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| Band | Yp11.2 | Start | 9,466,955 bp[1] |
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End | 9,469,749 bp[1] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - testicle
- gonad
- right testis
- left testis
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| | More reference expression data |
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/1/1f/PBB_GE_TSPY1_207918_s_at_fs.png/250px-PBB_GE_TSPY1_207918_s_at_fs.png) | More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_003308 NM_001197242 NM_001320964 |
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RefSeq (protein) | |
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NP_001184171 NP_001307893 NP_003299 |
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Location (UCSC) | Chr Y: 9.47 – 9.47 Mb | n/a |
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PubMed search | [2] | n/a |
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Wikidata |
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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]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000258992 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: TSPY1 Testis specific protein, Y-linked 1".
- ^ "TSPY1 testis specific protein Y-linked 1 [Homo sapiens (human)] - Gene - NCBI".
- ^ Schnieders F, Dörk T, Arnemann J, et al. (1997). "Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues". Hum. Mol. Genet. 5 (11): 1801–7. doi:10.1093/hmg/5.11.1801. PMID 8923009.
Further reading
- 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.