TSPY1_HUMAN
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 03-AUG-2022, entry version 197.
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; 5.
DR MINT; Q01534; -.
DR iPTMnet; Q01534; -.
DR PhosphoSitePlus; Q01534; -.
DR BioMuta; TSPY1; -.
DR DMDM; 332278243; -.
DR jPOST; Q01534; -.
DR MassIVE; Q01534; -.
DR MaxQB; Q01534; -.
DR PaxDb; Q01534; -.
DR PeptideAtlas; Q01534; -.
DR PRIDE; Q01534; -.
DR ProteomicsDB; 57966; -. [Q01534-1]
DR ProteomicsDB; 57967; -. [Q01534-2]
DR Antibodypedia; 65589; 164 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 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; 1191764at2759; -.
DR TreeFam; TF313386; -.
DR PathwayCommons; Q01534; -.
DR SignaLink; Q01534; -.
DR SIGNOR; Q01534; -.
DR BioGRID-ORCS; 100289087; 3 hits in 92 CRISPR screens.
DR BioGRID-ORCS; 7258; 18 hits in 590 CRISPR screens.
DR BioGRID-ORCS; 728137; 13 hits in 167 CRISPR screens.
DR Pharos; Q01534; Tbio.
DR PRO; PR:Q01534; -.
DR Proteomes; UP000005640; Chromosome Y.
DR RNAct; Q01534; protein.
DR Bgee; ENSG00000258992; Expressed in right testis and 1 other tissue.
DR Genevisible; Q01534; HS.
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 InterPro; IPR037231; NAP-like_sf.
DR InterPro; IPR002164; NAP_family.
DR PANTHER; PTHR11875; PTHR11875; 1.
DR Pfam; PF00956; NAP; 1.
DR SUPFAM; SSF143113; SSF143113; 1.
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
