Reviewed,
UniProtKB/Swiss-Prot Q01534 (TSPY1_HUMAN)
Last modified
November 25, 2008.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Testis-specific Y-encoded protein 1 Alternative name(s): Cancer/testis antigen 78 Short name=CT78 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 308 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Unknown. May be involved in sperm differentiation and proliferation. |
| Subcellular location | Cytoplasm. Nucleus. Note= Predominantly cytoplasmic. Also found in nucleus. |
| 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. |
| Post-translational modification | 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. 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. Ref.3 reports 35 tandemly repeated gene copies on Yp11 originating from one individual. |
| Involvement in disease | May be associated with gonadoblastoma (GBY) [MIM:424500]. GBY is a rare tumor that rises mostly in the dysgenetic gonads of phenotypic females who harbor some Y-chromosomal material. Copies of TSPY fall within the GBY critical region and TSPY1 is preferentially expressed in the germ cells of tumor aggregates in GBY. Expression correlates with testicular seminoma, and tumorigenesis of the prostate gland. Lies in a chromosomal region that is frequently deleted in infertile males. |
| Sequence similarities | Belongs to the nucleosome assembly protein (NAP) family. |
| Sequence caution | The sequence AAA61238.1 differs from that shown. Reason: Miscellaneous discrepancy. Probable unspliced transcript. The sequence X74029 differs from that shown. Reason: Frameshift at several positions. |
Ontologies
Keywords | |
|---|---|
| Biological process | Differentiation Gonadal differentiation Spermatogenesis |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | Developmental protein |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW cell proliferation Ref.1Traceable author statement. Source: ProtInc gonadal mesoderm developmentInferred from electronic annotation. Source: UniProtKB-KW nucleosome assemblyInferred from electronic annotation. Source: InterPro spermatogenesis Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW nucleusInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| itself | 1 | EBI-1973142,EBI-1973142 | ||
| Eef1a1 | P10126 | 4 | EBI-1973142,EBI-773865 | From a different organism. |
| Eef1a2 | P62631 | 1 | EBI-1973142,EBI-642385 | From a different organism. |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] Notes: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: Q01534-1) Also known as: Short; TSPY-S; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q01534-2) Also known as: Long; TSPY-L; The sequence of this isoform differs from the canonical sequence as follows: 275-308: ILCKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS → SPDRSYVRTCGAIPCNTTRG |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 308 | 308 | Testis-specific Y-encoded protein 1 | PRO_0000185668 | |||||
Natural variations | |||||||||
| Alternative sequence | 275 – 308 | 34 | ILCKD…SQLLS → SPDRSYVRTCGAIPCNTTRG in isoform 2. | VSP_008012 | |||||
| Natural variant | 79 | 1 | E → EVEVVAE | VAR_016226 | |||||
| Natural variant | 195 | 1 | P → R | VAR_016227 | |||||
| Natural variant | 216 | 1 | I → F | VAR_016228 | |||||
Experimental info | |||||||||
| Sequence conflict | 2 – 3 | 2 | RP → PA in X74029. Ref.5 | ||||||
| Sequence conflict | 92 – 93 | 2 | RA → PR in AAB51693. Ref.1 | ||||||
| Sequence conflict | 92 – 93 | 2 | RA → PR in AAD47421. Ref.2 | ||||||
| Sequence conflict | 92 – 93 | 2 | RA → PR in AAA36570. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues." Schnieders F., Doerk T., Arnemann J., Vogel T., Werner P., Schmidtke J. Hum. Mol. Genet. 5:1801-1807(1996) [PubMed: 8923009] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, PHOSPHORYLATION. Tissue: Testis. |
| [2] | "Characterization of a new TSPY gene family member in Yq (TSPYq1)." Ratti A., Stuppia L., Gatta V., Fogh I., Calabrese G., Pizzuti A., Palka G. Cytogenet. Cell Genet. 88:159-162(2000) [PubMed: 10773691] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), DISEASE, VARIANT ARG-195. |
| [3] | "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A. Page D.C.Nature 423:825-837(2003) [PubMed: 12815422] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS VAL-GLU-VAL-VAL-ALA-GLU-79 INS AND ARG-195. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [5] | "TSPY-related sequences represent a microheterogeneous gene family." Manz E., Schnieders F., Mueller Brechlin A., Schmidtke J. Genomics 17:726-731(1993) [PubMed: 8244388] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-274, VARIANT PHE-216. |
| [6] | "Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY." Arnemann J., Jakubiczka S., Thuring S., Schmidtke J. Genomics 11:108-114(1991) [PubMed: 1765369] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 5-248. Tissue: Testis. |
| [7] | "Molecular isolation and characterization of an expressed gene from the human Y chromosome." Zhang J.S., Yang-Feng T.L., Muller U., Mohandas T.K., de Jong P.J., Lau Y.-F.C. Hum. Mol. Genet. 1:717-726(1992) [PubMed: 1284595] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 42-308 (ISOFORM 2). Tissue: Testis. |
| [8] | "A human Y-chromosomal DNA sequence expressed in testicular tissue." Arnemann J., Epplen J.T., Cooke H.J., Sauermann U., Engel W., Schmidtke J. Nucleic Acids Res. 15:8713-8724(1987) [PubMed: 3479749] [Abstract] Cited for: PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Testis. |
| [9] | "Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes." Krick R., Jakubiczka S., Arnemann J. Gene 302:11-19(2003) [PubMed: 12527192] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), GENE FAMILY ORGANIZATION. |
| [10] | "TSPY variants in six loci on the human Y chromosome." Dechend F., Williams G., Skawran B., Schubert S., Krawczak M., Tyler-Smith C., Schmidtke J. Cytogenet. Cell Genet. 91:67-71(2000) [PubMed: 11173833] [Abstract] Cited for: VARIANTS VAL-GLU-VAL-VAL-ALA-GLU-79 INS AND ARG-195, GENE FAMILY ORGANIZATION. |
| [11] | "Expression analysis of thirty one Y chromosome genes in human prostate cancer." Lau Y.-F.C., Zhang J. Mol. Carcinog. 27:308-321(2000) [PubMed: 10747295] [Abstract] Cited for: TISSUE SPECIFICITY, INDUCTION. |
| [12] | "Gonadoblastoma, testicular and prostate cancers, and the TSPY gene." Lau Y.-F.C. Am. J. Hum. Genet. 64:921-927(1999) [PubMed: 10090875] [Abstract] Cited for: REVIEW, DISEASE. |
| [13] | "Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma." Lau Y.-F.C., Chou P.M., Iezzoni J.C., Alonzo J.A., Koemueves L.G. Cytogenet. Cell Genet. 91:160-164(2000) [PubMed: 11173850] [Abstract] Cited for: DISEASE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U58096 mRNA. Translation: AAB51693.1. M98524 Genomic DNA. No translation available. AF106331 Genomic DNA. Translation: AAD47421.1. AC006156 Genomic DNA. No translation available. AC006158 Genomic DNA. No translation available. AC025819 Genomic DNA. No translation available. BC121114 mRNA. Translation: AAI21115.1. X74029 Genomic DNA. No translation available. M94893 mRNA. Translation: AAA61238.1. Sequence problems. M98525 mRNA. Translation: AAA36570.1. Different initiation. X06325 Genomic DNA. Translation: CAA29640.1. Sequence problems. | |
| PIR | A27293. A40571. I54327. |
| UniGene | Hs.556121 Hs.571766 Hs.592352 Hs.646249 Hs.647493 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q01534. |
PTM databases | |
| PhosphoSite | Q01534. |
Genome annotation databases | |
| Ensembl | ENSG00000168692. Homo sapiens. [Contig view] ENSG00000188656. Homo sapiens. [Contig view] |
Organism-specific databases | |
| H-InvDB | HIX0017184. HIX0077362. HIX0077368. HIX0093780. |
| HGNC | HGNC:12381. TSPY1. |
| MIM | 424500. phenotype. 480100. gene. |
| PharmGKB | PA37049. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q01534. |
| HOVERGEN | Q01534. |
Gene expression databases | |
| CleanEx | HS_TSPY1. |
| GermOnline | ENSG00000168692. Homo sapiens. ENSG00000185912. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002164. NAP_family. [Graphical view] |
| PANTHER | PTHR11875. NAP_family. 1 hit. |
| Pfam | PF00956. NAP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| LinkHub | Q01534. |
| SOURCE | Search... |
Entry information
| Entry name | TSPY1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q01534 Secondary accession number(s): O00216 Q9UNN7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome Y Human chromosome Y: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


