ID   TSPY1_HUMAN             Reviewed;         308 AA.
AC   Q01534; A6NJD2; O00216; P09002; Q0VAD3; Q9UNN7;
DT   01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT   03-MAY-2011, sequence version 4.
DT   24-JAN-2024, entry version 204.
DE   RecName: Full=Testis-specific Y-encoded protein 1;
DE   AltName: Full=Cancer/testis antigen 78;
DE            Short=CT78;
GN   Name=TSPY1; Synonyms=TSPY;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ALTERNATIVE SPLICING,
RP   TISSUE SPECIFICITY, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, AND
RP   PHOSPHORYLATION.
RC   TISSUE=Testis;
RX   PubMed=8923009; DOI=10.1093/hmg/5.11.1801;
RA   Schnieders F., Doerk T., Arnemann J., Vogel T., Werner P., Schmidtke J.;
RT   "Testis-specific protein, Y-encoded (TSPY) expression in testicular
RT   tissues.";
RL   Hum. Mol. Genet. 5:1801-1807(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), DISEASE, AND VARIANT
RP   ARG-195.
RX   PubMed=10773691; DOI=10.1159/000015510;
RA   Ratti A., Stuppia L., Gatta V., Fogh I., Calabrese G., Pizzuti A.,
RA   Palka G.;
RT   "Characterization of a new TSPY gene family member in Yq (TSPYq1).";
RL   Cytogenet. Cell Genet. 88:159-162(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12815422; DOI=10.1038/nature01722;
RA   Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W.,
RA   Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A.,
RA   Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R.,
RA   Graves T.A., Hou S.-F., Latrielle P., Leonard S., Mardis E., Maupin R.,
RA   McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S.,
RA   Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.-P.,
RA   Waterston R.H., Wilson R.K., Rozen S., Page D.C.;
RT   "The male-specific region of the human Y chromosome is a mosaic of discrete
RT   sequence classes.";
RL   Nature 423:825-837(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-274, AND VARIANT PHE-216.
RX   PubMed=8244388; DOI=10.1006/geno.1993.1393;
RA   Manz E., Schnieders F., Mueller Brechlin A., Schmidtke J.;
RT   "TSPY-related sequences represent a microheterogeneous gene family
RT   organized as constitutive elements in DYZ5 tandem repeat units on the human
RT   Y chromosome.";
RL   Genomics 17:726-731(1993).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 5-248.
RC   TISSUE=Testis;
RX   PubMed=1765369; DOI=10.1016/0888-7543(91)90107-p;
RA   Arnemann J., Jakubiczka S., Thuring S., Schmidtke J.;
RT   "Cloning and sequence analysis of a human Y-chromosome-derived, testicular
RT   cDNA, TSPY.";
RL   Genomics 11:108-114(1991).
RN   [7]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 42-308 (ISOFORM 2).
RC   TISSUE=Testis;
RX   PubMed=1284595; DOI=10.1093/hmg/1.9.717;
RA   Zhang J.S., Yang-Feng T.L., Muller U., Mohandas T.K., de Jong P.J.,
RA   Lau Y.-F.C.;
RT   "Molecular isolation and characterization of an expressed gene from the
RT   human Y chromosome.";
RL   Hum. Mol. Genet. 1:717-726(1992).
RN   [8]
RP   PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC   TISSUE=Testis;
RX   PubMed=3479749; DOI=10.1093/nar/15.21.8713;
RA   Arnemann J., Epplen J.T., Cooke H.J., Sauermann U., Engel W., Schmidtke J.;
RT   "A human Y-chromosomal DNA sequence expressed in testicular tissue.";
RL   Nucleic Acids Res. 15:8713-8724(1987).
RN   [9]
RP   ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), AND GENE FAMILY ORGANIZATION.
RX   PubMed=12527192; DOI=10.1016/s0378-1119(02)01104-6;
RA   Krick R., Jakubiczka S., Arnemann J.;
RT   "Expression, alternative splicing and haplotype analysis of transcribed
RT   testis specific protein (TSPY) genes.";
RL   Gene 302:11-19(2003).
RN   [10]
RP   VARIANTS VAL-GLU-VAL-VAL-ALA-GLU-79 INS AND ARG-195, AND GENE FAMILY
RP   ORGANIZATION.
RX   PubMed=11173833; DOI=10.1159/000056821;
RA   Dechend F., Williams G., Skawran B., Schubert S., Krawczak M.,
RA   Tyler-Smith C., Schmidtke J.;
RT   "TSPY variants in six loci on the human Y chromosome.";
RL   Cytogenet. Cell Genet. 91:67-71(2000).
RN   [11]
RP   TISSUE SPECIFICITY, AND INDUCTION.
RX   PubMed=10747295;
RX   DOI=10.1002/(sici)1098-2744(200004)27:4<308::aid-mc9>3.0.co;2-r;
RA   Lau Y.-F.C., Zhang J.;
RT   "Expression analysis of thirty one Y chromosome genes in human prostate
RT   cancer.";
RL   Mol. Carcinog. 27:308-321(2000).
RN   [12]
RP   REVIEW, AND DISEASE.
RX   PubMed=10090875; DOI=10.1086/302353;
RA   Lau Y.-F.C.;
RT   "Gonadoblastoma, testicular and prostate cancers, and the TSPY gene.";
RL   Am. J. Hum. Genet. 64:921-927(1999).
RN   [13]
RP   DISEASE.
RX   PubMed=11173850; DOI=10.1159/000056838;
RA   Lau Y.-F.C., Chou P.M., Iezzoni J.C., Alonzo J.A., Koemueves L.G.;
RT   "Expression of a candidate gene for the gonadoblastoma locus in
RT   gonadoblastoma and testicular seminoma.";
RL   Cytogenet. Cell Genet. 91:160-164(2000).
CC   -!- FUNCTION: May be involved in sperm differentiation and proliferation.
CC       {ECO:0000269|PubMed:8923009}.
CC   -!- INTERACTION:
CC       Q01534; P10126: Eef1a1; Xeno; NbExp=5; IntAct=EBI-1973142, EBI-773865;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8923009}. Nucleus
CC       {ECO:0000269|PubMed:8923009}. Note=Predominantly cytoplasmic. Also
CC       found in nucleus.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC         Comment=Additional isoforms seem to exist.;
CC       Name=1; Synonyms=Short, TSPY-S;
CC         IsoId=Q01534-1; Sequence=Displayed;
CC       Name=2; Synonyms=Long, TSPY-L;
CC         IsoId=Q01534-2; Sequence=VSP_008012;
CC   -!- TISSUE SPECIFICITY: Specifically expressed in testicular tissues.
CC       Isoform 1 and isoform 2 are expressed in spermatogonia and
CC       spermatocytes. Found in early testicular carcinoma in situ,
CC       spermatogonial cells in testicular tissues of 46,X,Y female and in
CC       prostate cancer cell lines. {ECO:0000269|PubMed:10747295,
CC       ECO:0000269|PubMed:8923009}.
CC   -!- DEVELOPMENTAL STAGE: Detected in 22-week old testis.
CC       {ECO:0000269|PubMed:8923009}.
CC   -!- INDUCTION: Up-regulated by androgen in a prostate cancer cell line.
CC       {ECO:0000269|PubMed:10747295}.
CC   -!- PTM: Phosphorylated. {ECO:0000269|PubMed:8923009}.
CC   -!- POLYMORPHISM: Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are
CC       shown to be present in a number of TSPY1 copies of the Yp11 loci.
CC       Variant Arg-195 is shown to be present at least in one TSPY1 copy of
CC       the Yq locus.
CC   -!- POLYMORPHISM: Maps to a tandemly repeated region on chromosome Yp11;
CC       additionally at least one copy is reported originating from Yq. The
CC       gene is thought to be present with an inter-individual variation in
CC       copy number and between 20 and 60 copies per Y chromosome are expected.
CC       PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11
CC       originating from one individual.
CC   -!- DISEASE: Note=TSPY is located in the gonadoblastoma critical region and
CC       is preferentially expressed in tumor germ cells of gonadoblastoma
CC       specimens. Expression also correlates with testicular seminoma and
CC       tumorigenesis of the prostate gland. {ECO:0000269|PubMed:10090875,
CC       ECO:0000269|PubMed:10773691, ECO:0000269|PubMed:11173850}.
CC   -!- SIMILARITY: Belongs to the nucleosome assembly protein (NAP) family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAA36570.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAA61238.1; Type=Miscellaneous discrepancy; Note=Probable unspliced transcript.; Evidence={ECO:0000305};
CC       Sequence=CAA29640.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin inserted in the coding sequence.; Evidence={ECO:0000305};
CC       Sequence=X74029; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; U58096; AAB51693.1; -; mRNA.
DR   EMBL; AF106331; AAD47421.1; -; Genomic_DNA.
DR   EMBL; AC006156; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC121114; AAI21115.1; -; mRNA.
DR   EMBL; X74029; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; M94893; AAA61238.1; ALT_SEQ; mRNA.
DR   EMBL; M98524; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; M98525; AAA36570.1; ALT_INIT; mRNA.
DR   EMBL; X06325; CAA29640.1; ALT_SEQ; Genomic_DNA.
DR   CCDS; CCDS48205.1; -. [Q01534-1]
DR   CCDS; CCDS76071.1; -. [Q01534-2]
DR   PIR; A27293; A27293.
DR   PIR; A40571; A40571.
DR   PIR; I54327; I54327.
DR   RefSeq; NP_001071165.2; NM_001077697.2.
DR   RefSeq; NP_001184171.1; NM_001197242.2. [Q01534-2]
DR   RefSeq; NP_001269398.1; NM_001282469.2.
DR   RefSeq; NP_003299.2; NM_003308.4. [Q01534-1]
DR   AlphaFoldDB; Q01534; -.
DR   SMR; Q01534; -.
DR   BioGRID; 113109; 6.
DR   BioGRID; 608573; 7.
DR   BioGRID; 940742; 3.
DR   CORUM; Q01534; -.
DR   DIP; DIP-46607N; -.
DR   IntAct; Q01534; 4.
DR   MINT; Q01534; -.
DR   STRING; 9606.ENSP00000403304; -.
DR   iPTMnet; Q01534; -.
DR   PhosphoSitePlus; Q01534; -.
DR   BioMuta; TSPY1; -.
DR   DMDM; 332278243; -.
DR   jPOST; Q01534; -.
DR   MassIVE; Q01534; -.
DR   MaxQB; Q01534; -.
DR   PeptideAtlas; Q01534; -.
DR   ProteomicsDB; 57966; -. [Q01534-1]
DR   ProteomicsDB; 57967; -. [Q01534-2]
DR   Antibodypedia; 65589; 179 antibodies from 21 providers.
DR   DNASU; 728137; -.
DR   Ensembl; ENST00000423647.6; ENSP00000389324.3; ENSG00000258992.7. [Q01534-2]
DR   Ensembl; ENST00000451548.6; ENSP00000403304.1; ENSG00000258992.7. [Q01534-1]
DR   GeneID; 100289087; -.
DR   GeneID; 7258; -.
DR   GeneID; 728137; -.
DR   KEGG; hsa:100289087; -.
DR   KEGG; hsa:7258; -.
DR   KEGG; hsa:728137; -.
DR   MANE-Select; ENST00000451548.6; ENSP00000403304.1; NM_003308.4; NP_003299.2.
DR   UCSC; uc004frw.5; human. [Q01534-1]
DR   AGR; HGNC:12381; -.
DR   AGR; HGNC:33876; -.
DR   AGR; HGNC:37473; -.
DR   CTD; 100289087; -.
DR   CTD; 7258; -.
DR   CTD; 728137; -.
DR   DisGeNET; 100289087; -.
DR   DisGeNET; 7258; -.
DR   DisGeNET; 728137; -.
DR   GeneCards; TSPY1; -.
DR   HGNC; HGNC:12381; TSPY1.
DR   HPA; ENSG00000258992; Tissue enriched (testis).
DR   MalaCards; TSPY1; -.
DR   MIM; 480100; gene.
DR   neXtProt; NX_Q01534; -.
DR   OpenTargets; ENSG00000258992; -.
DR   Orphanet; 1646; Partial chromosome Y deletion.
DR   PharmGKB; PA165791579; -.
DR   VEuPathDB; HostDB:ENSG00000258992; -.
DR   GeneTree; ENSGT00940000162417; -.
DR   InParanoid; Q01534; -.
DR   OrthoDB; 4682607at2759; -.
DR   TreeFam; TF313386; -.
DR   PathwayCommons; Q01534; -.
DR   SignaLink; Q01534; -.
DR   SIGNOR; Q01534; -.
DR   BioGRID-ORCS; 100289087; 3 hits in 123 CRISPR screens.
DR   BioGRID-ORCS; 7258; 19 hits in 634 CRISPR screens.
DR   BioGRID-ORCS; 728137; 13 hits in 207 CRISPR screens.
DR   Pharos; Q01534; Tbio.
DR   PRO; PR:Q01534; -.
DR   Proteomes; UP000005640; Chromosome Y.
DR   RNAct; Q01534; Protein.
DR   Bgee; ENSG00000258992; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 3 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR   GO; GO:0042393; F:histone binding; IBA:GO_Central.
DR   GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR   GO; GO:0007506; P:gonadal mesoderm development; IEA:UniProtKB-KW.
DR   GO; GO:0006334; P:nucleosome assembly; IEA:InterPro.
DR   GO; GO:0007548; P:sex differentiation; TAS:ProtInc.
DR   GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR   Gene3D; 1.20.5.1500; -; 1.
DR   Gene3D; 3.30.1120.90; Nucleosome assembly protein; 1.
DR   InterPro; IPR037231; NAP-like_sf.
DR   InterPro; IPR002164; NAP_family.
DR   PANTHER; PTHR11875; TESTIS-SPECIFIC Y-ENCODED PROTEIN; 1.
DR   PANTHER; PTHR11875:SF12; TESTIS-SPECIFIC Y-ENCODED PROTEIN 1-RELATED; 1.
DR   Pfam; PF00956; NAP; 1.
DR   SUPFAM; SSF143113; NAP-like; 1.
DR   Genevisible; Q01534; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW   Gonadal differentiation; Nucleus; Phosphoprotein; Reference proteome;
KW   Spermatogenesis.
FT   CHAIN           1..308
FT                   /note="Testis-specific Y-encoded protein 1"
FT                   /id="PRO_0000185668"
FT   VAR_SEQ         275..308
FT                   /note="ILCKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS -> SPDRSYVRTCGAIP
FT                   CNTTRG (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_008012"
FT   VARIANT         79
FT                   /note="E -> EVEVVAE"
FT                   /id="VAR_016226"
FT   VARIANT         195
FT                   /note="P -> R"
FT                   /evidence="ECO:0000269|PubMed:10773691,
FT                   ECO:0000269|PubMed:11173833"
FT                   /id="VAR_016227"
FT   VARIANT         216
FT                   /note="I -> F"
FT                   /evidence="ECO:0000269|PubMed:8244388"
FT                   /id="VAR_016228"
FT   CONFLICT        2..3
FT                   /note="RP -> PA (in Ref. 5; X74029)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        92..93
FT                   /note="RA -> PR (in Ref. 1; AAB51693, 2; AAD47421 and 7;
FT                   AAA36570)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        109
FT                   /note="P -> L (in Ref. 1; AAB51693, 2; AAD47421, 4;
FT                   AAI21115 and 7; AAA36570)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        190
FT                   /note="G -> E (in Ref. 1; AAB51693, 2; AAD47421, 4;
FT                   AAI21115 and 7; AAA36570)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   308 AA;  35012 MW;  5BDF0770F0B400A2 CRC64;
     MRPEGSLTYR VPERLRQGFC GVGRAAQALV CASAKEGTAF RMEAVQEGAA GVESEQAALG
     EEAVLLLDDI MAEVEVVAEE EGLVERREEA QRAQQAVPGP GPMTPESAPE ELLAVQVELE
     PVNAQARKAF SRQREKMERR RKPHLDRRGA VIQSVPGFWA NVIANHPQMS ALITDEDEDM
     LSYMVSLEVG EEKHPVHLCK IMLFFRSNPY FQNKVITKEY LVNITEYRAS HSTPIEWYPD
     YEVEAYRRRH HNSSLNFFNW FSDHNFAGSN KIAEILCKDL WRNPLQYYKR MKPPEEGTET
     SGDSQLLS
//