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Q01534

- TSPY1_HUMAN

UniProt

Q01534 - TSPY1_HUMAN

Protein

Testis-specific Y-encoded protein 1

Gene

TSPY1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 4 (03 May 2011)
      Previous versions | rss
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    Functioni

    May be involved in sperm differentiation and proliferation.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. cell proliferation Source: ProtInc
    3. gonadal mesoderm development Source: UniProtKB-KW
    4. nucleosome assembly Source: InterPro
    5. sex differentiation Source: ProtInc
    6. spermatogenesis Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Gonadal differentiation, Spermatogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Testis-specific Y-encoded protein 1
    Alternative name(s):
    Cancer/testis antigen 78
    Short name:
    CT78
    Gene namesi
    Name:TSPY1
    Synonyms:TSPY
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome Y

    Organism-specific databases

    HGNCiHGNC:12381. TSPY1.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication
    Note: Predominantly cytoplasmic. Also found in nucleus.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications

    Organism-specific databases

    Orphaneti1772. 45,X/46,XY mixed gonadal dysgenesis.
    1646. Partial chromosome Y deletion.
    PharmGKBiPA165791579.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 308308Testis-specific Y-encoded protein 1PRO_0000185668Add
    BLAST

    Post-translational modificationi

    Phosphorylated.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ01534.
    PRIDEiQ01534.

    PTM databases

    PhosphoSiteiQ01534.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Developmental stagei

    Detected in 22-week old testis.1 Publication

    Inductioni

    Up-regulated by androgen in a prostate cancer cell line.1 Publication

    Gene expression databases

    BgeeiQ01534.
    CleanExiHS_TSPY1.
    GenevestigatoriQ01534.

    Organism-specific databases

    HPAiHPA049384.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Eef1a1P101265EBI-1973142,EBI-773865From a different organism.

    Protein-protein interaction databases

    BioGridi113109. 4 interactions.
    608573. 1 interaction.
    940742. 1 interaction.
    DIPiDIP-46607N.
    IntActiQ01534. 3 interactions.
    STRINGi9606.ENSP00000314077.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01534.
    SMRiQ01534. Positions 106-288.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG277815.
    HOGENOMiHOG000253937.
    HOVERGENiHBG014779.
    InParanoidiQ01534.
    KOiK11284.
    OMAiRHERWWE.
    OrthoDBiEOG7FBRJB.
    TreeFamiTF313386.

    Family and domain databases

    InterProiIPR002164. NAP_family.
    [Graphical view]
    PANTHERiPTHR11875. PTHR11875. 1 hit.
    PfamiPF00956. NAP. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q01534-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA    50
    GVESEQAALG EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP 100
    GPMTPESAPE ELLAVQVELE PVNAQARKAF SRQREKMERR RKPHLDRRGA 150
    VIQSVPGFWA NVIANHPQMS ALITDEDEDM LSYMVSLEVG EEKHPVHLCK 200
    IMLFFRSNPY FQNKVITKEY LVNITEYRAS HSTPIEWYPD YEVEAYRRRH 250
    HNSSLNFFNW FSDHNFAGSN KIAEILCKDL WRNPLQYYKR MKPPEEGTET 300
    SGDSQLLS 308
    Length:308
    Mass (Da):35,012
    Last modified:May 3, 2011 - v4
    Checksum:i5BDF0770F0B400A2
    GO
    Isoform 2 (identifier: Q01534-2) [UniParc]FASTAAdd to Basket

    Also known as: Long, TSPY-L

    The sequence of this isoform differs from the canonical sequence as follows:
         275-308: ILCKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS → SPDRSYVRTCGAIPCNTTRG

    Show »
    Length:294
    Mass (Da):33,169
    Checksum:iD00764D1DB24339A
    GO

    Sequence cautioni

    The sequence AAA61238.1 differs from that shown. Reason: Probable unspliced transcript.
    The sequence CAA29640.1 differs from that shown. Reason: Sequence of unknown origin inserted in the coding sequence.
    The sequence X74029 differs from that shown. Reason: Frameshift at several positions.
    The sequence AAA36570.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 32RP → PA in X74029. (PubMed:8244388)Curated
    Sequence conflicti92 – 932RA → PR in AAB51693. (PubMed:8923009)Curated
    Sequence conflicti92 – 932RA → PR in AAD47421. (PubMed:10773691)Curated
    Sequence conflicti92 – 932RA → PR in AAA36570. (PubMed:1284595)Curated
    Sequence conflicti109 – 1091P → L in AAB51693. (PubMed:8923009)Curated
    Sequence conflicti109 – 1091P → L in AAD47421. (PubMed:10773691)Curated
    Sequence conflicti109 – 1091P → L in AAI21115. (PubMed:15489334)Curated
    Sequence conflicti109 – 1091P → L in AAA36570. (PubMed:1284595)Curated
    Sequence conflicti190 – 1901G → E in AAB51693. (PubMed:8923009)Curated
    Sequence conflicti190 – 1901G → E in AAD47421. (PubMed:10773691)Curated
    Sequence conflicti190 – 1901G → E in AAI21115. (PubMed:15489334)Curated
    Sequence conflicti190 – 1901G → E in AAA36570. (PubMed:1284595)Curated

    Polymorphismi

    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. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791E → EVEVVAE.
    VAR_016226
    Natural varianti195 – 1951P → R.2 Publications
    VAR_016227
    Natural varianti216 – 2161I → F.1 Publication
    VAR_016228

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei275 – 30834ILCKD…SQLLS → SPDRSYVRTCGAIPCNTTRG in isoform 2. CuratedVSP_008012Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U58096 mRNA. Translation: AAB51693.1.
    AF106331 Genomic DNA. Translation: AAD47421.1.
    AC006156 Genomic DNA. No translation available.
    BC121114 mRNA. Translation: AAI21115.1.
    X74029 Genomic DNA. No translation available.
    M94893 mRNA. Translation: AAA61238.1. Sequence problems.
    M98524 Genomic DNA. No translation available.
    M98525 mRNA. Translation: AAA36570.1. Different initiation.
    X06325 Genomic DNA. Translation: CAA29640.1. Sequence problems.
    CCDSiCCDS48205.1. [Q01534-1]
    PIRiA27293.
    A40571.
    I54327.
    RefSeqiNP_001071165.2. NM_001077697.2.
    NP_001269398.1. NM_001282469.1.
    NP_003299.2. NM_003308.3. [Q01534-1]
    UniGeneiHs.556121.
    Hs.646249.
    Hs.647493.
    Hs.730364.

    Genome annotation databases

    GeneIDi100289087.
    7258.
    728137.
    KEGGihsa:100289087.
    hsa:7258.
    hsa:728137.
    UCSCiuc004frw.4. human. [Q01534-1]
    uc004frx.4. human. [Q01534-2]

    Polymorphism databases

    DMDMi332278243.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U58096 mRNA. Translation: AAB51693.1 .
    AF106331 Genomic DNA. Translation: AAD47421.1 .
    AC006156 Genomic DNA. No translation available.
    BC121114 mRNA. Translation: AAI21115.1 .
    X74029 Genomic DNA. No translation available.
    M94893 mRNA. Translation: AAA61238.1 . Sequence problems.
    M98524 Genomic DNA. No translation available.
    M98525 mRNA. Translation: AAA36570.1 . Different initiation.
    X06325 Genomic DNA. Translation: CAA29640.1 . Sequence problems.
    CCDSi CCDS48205.1. [Q01534-1 ]
    PIRi A27293.
    A40571.
    I54327.
    RefSeqi NP_001071165.2. NM_001077697.2.
    NP_001269398.1. NM_001282469.1.
    NP_003299.2. NM_003308.3. [Q01534-1 ]
    UniGenei Hs.556121.
    Hs.646249.
    Hs.647493.
    Hs.730364.

    3D structure databases

    ProteinModelPortali Q01534.
    SMRi Q01534. Positions 106-288.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113109. 4 interactions.
    608573. 1 interaction.
    940742. 1 interaction.
    DIPi DIP-46607N.
    IntActi Q01534. 3 interactions.
    STRINGi 9606.ENSP00000314077.

    PTM databases

    PhosphoSitei Q01534.

    Polymorphism databases

    DMDMi 332278243.

    Proteomic databases

    PaxDbi Q01534.
    PRIDEi Q01534.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 100289087.
    7258.
    728137.
    KEGGi hsa:100289087.
    hsa:7258.
    hsa:728137.
    UCSCi uc004frw.4. human. [Q01534-1 ]
    uc004frx.4. human. [Q01534-2 ]

    Organism-specific databases

    CTDi 100289087.
    7258.
    728137.
    GeneCardsi GC0YP009304.
    H-InvDB HIX0148579.
    HGNCi HGNC:12381. TSPY1.
    HPAi HPA049384.
    MIMi 480100. gene.
    neXtProti NX_Q01534.
    Orphaneti 1772. 45,X/46,XY mixed gonadal dysgenesis.
    1646. Partial chromosome Y deletion.
    PharmGKBi PA165791579.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277815.
    HOGENOMi HOG000253937.
    HOVERGENi HBG014779.
    InParanoidi Q01534.
    KOi K11284.
    OMAi RHERWWE.
    OrthoDBi EOG7FBRJB.
    TreeFami TF313386.

    Miscellaneous databases

    NextBioi 20778832.
    PROi Q01534.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q01534.
    CleanExi HS_TSPY1.
    Genevestigatori Q01534.

    Family and domain databases

    InterProi IPR002164. NAP_family.
    [Graphical view ]
    PANTHERi PTHR11875. PTHR11875. 1 hit.
    Pfami PF00956. NAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), DISEASE, VARIANT ARG-195.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome."
      Manz E., Schnieders F., Mueller Brechlin A., Schmidtke J.
      Genomics 17:726-731(1993) [PubMed] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: DISEASE.

    Entry informationi

    Entry nameiTSPY1_HUMAN
    AccessioniPrimary (citable) accession number: Q01534
    Secondary accession number(s): A6NJD2
    , O00216, P09002, Q0VAD3, Q9UNN7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: May 3, 2011
    Last modified: October 1, 2014
    This is version 136 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome Y
      Human chromosome Y: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3