LOCUS       NM_003308               1161 bp    mRNA    linear   PRI 05-JUN-2024
DEFINITION  Homo sapiens testis specific protein Y-linked 1 (TSPY1), transcript
            variant 1, mRNA.
ACCESSION   NM_003308
VERSION     NM_003308.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1161)
  AUTHORS   Paladhi,P., Dutta,S., Pal,S., Bose,G., Ghosh,P., Chattopadhyay,R.,
            Chakravarty,B., Saha,I. and Ghosh,S.
  TITLE     Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among
            Men
  JOURNAL   Reprod Sci 29 (4), 1241-1261 (2022)
   PUBMED   35041134
  REMARK    GeneRIF: Novel Mutations of TSPY1 Gene Associate Spermatogenic
            Failure Among Men.
REFERENCE   2  (bases 1 to 1161)
  AUTHORS   Leng,X., Liu,M., Tao,D., Yang,B., Zhang,Y., He,T., Xie,S., Wang,Z.,
            Liu,Y. and Yang,Y.
  TITLE     Epigenetic modification-dependent androgen receptor occupancy
            facilitates the ectopic TSPY1 expression in prostate cancer cells
  JOURNAL   Cancer Sci 112 (2), 691-702 (2021)
   PUBMED   33185915
  REMARK    GeneRIF: Epigenetic modification-dependent androgen receptor
            occupancy facilitates the ectopic TSPY1 expression in prostate
            cancer cells.
REFERENCE   3  (bases 1 to 1161)
  AUTHORS   Giguere,K., Leblond,F.A., Goma-Matsetse,E., Dave,V., Behanzin,L.,
            Guedou,F.A. and Alary,M.
  TITLE     A novel nested polymerase chain reaction targeting the
            testis-specific protein Y-encoded family of genes for high
            sensitivity of recent semen exposure detection: Comparison with
            four other assays of semen detection
  JOURNAL   PLoS One 14 (7), e0220326 (2019)
   PUBMED   31344101
  REMARK    GeneRIF: Compared to n-TSPY, all other PCR assays had poor
            performance to detect semen exposure. The n-TSPY is an accessible
            assay that may have great utility in assessing semen exposure in
            studies where many factors are expected to accelerate biomarkers'
            clearance.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1161)
  AUTHORS   Tu,W., Yang,B., Leng,X., Pei,X., Xu,J., Liu,M., Dong,Q., Tao,D.,
            Lu,Y., Liu,Y. and Yang,Y.
  TITLE     Testis-specific protein, Y-linked 1 activates PI3K/AKT and RAS
            signaling pathways through suppressing IGFBP3 expression during
            tumor progression
  JOURNAL   Cancer Sci 110 (5), 1573-1586 (2019)
   PUBMED   30815935
  REMARK    GeneRIF: Experimental evidence establishes TSPY1 as an oncogenic
            factor that facilitates tumor progression and causes poor prognosis
            in male patients with lung adenocarcinoma or hepatocellular
            carcinoma. These findings revealed that TSPY1 strongly promotes the
            activation of the PI3K/AKT and RAS signaling pathways through
            suppressing IGFBP3 gene transcription.
REFERENCE   5  (bases 1 to 1161)
  AUTHORS   Xue,Y. and Tyler-Smith,C.
  TITLE     An Exceptional Gene: Evolution of the TSPY Gene Family in Humans
            and Other Great Apes
  JOURNAL   Genes (Basel) 2 (1), 36-47 (2011)
   PUBMED   24710137
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1161)
  AUTHORS   Krick,R., Jakubiczka,S. and Arnemann,J.
  TITLE     Expression, alternative splicing and haplotype analysis of
            transcribed testis specific protein (TSPY) genes
  JOURNAL   Gene 302 (1-2), 11-19 (2003)
   PUBMED   12527192
REFERENCE   7  (bases 1 to 1161)
  AUTHORS   Zhang,J.S., Yang-Feng,T.L., Muller,U., Mohandas,T.K., de Jong,P.J.
            and Lau,Y.F.
  TITLE     Molecular isolation and characterization of an expressed gene from
            the human Y chromosome
  JOURNAL   Hum Mol Genet 1 (9), 717-726 (1992)
   PUBMED   1284595
REFERENCE   8  (bases 1 to 1161)
  AUTHORS   Guttenbach,M., Muller,U. and Schmid,M.
  TITLE     A human moderately repeated Y-specific DNA sequence is
            evolutionarily conserved in the Y chromosome of the great apes
  JOURNAL   Genomics 13 (2), 363-367 (1992)
   PUBMED   1612595
REFERENCE   9  (bases 1 to 1161)
  AUTHORS   Arnemann,J., Jakubiczka,S., Thuring,S. and Schmidtke,J.
  TITLE     Cloning and sequence analysis of a human Y-chromosome-derived,
            testicular cDNA, TSPY
  JOURNAL   Genomics 11 (1), 108-114 (1991)
   PUBMED   1765369
REFERENCE   10 (bases 1 to 1161)
  AUTHORS   Arnemann,J., Epplen,J.T., Cooke,H.J., Sauermann,U., Engel,W. and
            Schmidtke,J.
  TITLE     A human Y-chromosomal DNA sequence expressed in testicular tissue
  JOURNAL   Nucleic Acids Res 15 (21), 8713-8724 (1987)
   PUBMED   3479749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006156.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 10, 2016 this sequence version replaced NM_003308.3.
            
            Summary: The protein encoded by this gene is found only in
            testicular tissue and may be involved in spermatogenesis. Many
            functional paralogs and pseudogenes of this gene are present in a
            cluster in humans, but only a single, nonfunctional orthologous
            gene is found in mouse. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (TSPY-S).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000451548.6/ ENSP00000403304.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-532               AC006156.5         13242-13773
            533-610             AC006156.5         14381-14458
            611-722             AC006156.5         14587-14698
            723-868             AC006156.5         14800-14945
            869-950             AC006156.5         15052-15133
            951-1161            AC006156.5         15826-16036
FEATURES             Location/Qualifiers
     source          1..1161
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yp11.2"
     gene            1..1161
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /note="testis specific protein Y-linked 1"
                     /db_xref="GeneID:7258"
                     /db_xref="HGNC:HGNC:12381"
                     /db_xref="MIM:480100"
     exon            1..532
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..973
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /note="isoform TSPY-S is encoded by transcript variant 1;
                     cancer/testis antigen 78; testis-specific Y-encoded
                     protein 1; testis specific protein, Y-linked"
                     /codon_start=1
                     /product="testis-specific Y-encoded protein 1 isoform
                     TSPY-S"
                     /protein_id="NP_003299.2"
                     /db_xref="CCDS:CCDS48205.1"
                     /db_xref="GeneID:7258"
                     /db_xref="HGNC:HGNC:12381"
                     /db_xref="MIM:480100"
                     /translation="MRPEGSLTYRVPERLRQGFCGVGRAAQALVCASAKEGTAFRMEA
                     VQEGAAGVESEQAALGEEAVLLLDDIMAEVEVVAEEEGLVERREEAQRAQQAVPGPGP
                     MTPESAPEELLAVQVELEPVNAQARKAFSRQREKMERRRKPHLDRRGAVIQSVPGFWA
                     NVIANHPQMSALITDEDEDMLSYMVSLEVGEEKHPVHLCKIMLFFRSNPYFQNKVITK
                     EYLVNITEYRASHSTPIEWYPDYEVEAYRRRHHNSSLNFFNWFSDHNFAGSNKIAEIL
                     CKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS"
     exon            533..610
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /inference="alignment:Splign:2.1.0"
     exon            611..722
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /inference="alignment:Splign:2.1.0"
     exon            723..868
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /inference="alignment:Splign:2.1.0"
     exon            869..950
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1161
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1144..1149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
     polyA_site      1161
                     /gene="TSPY1"
                     /gene_synonym="CT78; DYS14; pJA923; TSPY"
ORIGIN      
        1 ggcccttcgc gcgcagtccc ttagggggcg cctggaagcc cggcgcatgc gccctgaggg
       61 ctcgctgacc taccgggtgc cagagaggct gcggcagggt ttctgtggcg tgggtcgggc
      121 agcacaggcc ttggtgtgtg cgagtgccaa ggagggcacc gccttcagga tggaggctgt
      181 gcaggagggg gcggccgggg tggagagtga gcaggcggct ttgggggagg aggcggtgct
      241 gctgttggat gacataatgg cggaggtgga ggtggtggcg gaggaggagg gcctcgtgga
      301 gcggcgggag gaggcccagc gggcacagca ggctgtgcct ggccctgggc ccatgacccc
      361 agagtctgca ccggaggagc tgctggccgt tcaggtggag ctggagccgg ttaatgccca
      421 agccaggaag gccttttctc ggcagcggga aaagatggag cggaggcgca agccccacct
      481 agaccgcaga ggcgccgtca tccagagcgt ccctggcttc tgggccaatg ttattgcaaa
      541 ccacccccag atgtcagccc tgatcactga cgaagatgaa gacatgctga gctacatggt
      601 cagcctggag gtgggagaag agaagcatcc tgttcatctc tgcaagatca tgttgttctt
      661 tcggagtaac ccctacttcc agaataaagt gattaccaag gaatatctgg tgaacatcac
      721 agaatacagg gcttctcatt ccactccaat tgagtggtat ccggattatg aagtggaggc
      781 ctatcgccgc agacaccaca acagcagcct taacttcttc aactggttct ctgaccacaa
      841 cttcgcagga tctaacaaga ttgctgagat cctatgtaag gacctgtggc gcaatcccct
      901 gcaatactac aagaggatga agccacctga agagggaaca gagacgtcag gggactccca
      961 gttgttgagt tgaatatgat ggagcatcag attttaccta atacagcaga actcctaaaa
     1021 agttacagcc atatgcagga cggcagtact cagcatggtc ttatgcacag gaactaaagg
     1081 aaaaagagat cgagtcacaa aaattcagga agagggggta aatgtggatt gtatggaatg
     1141 aaaaataaac attctcaagg a
//
