LOCUS       NM_003309               5073 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens TSPY like 1 (TSPYL1), mRNA.
ACCESSION   NM_003309 XM_371844
VERSION     NM_003309.4
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 5073)
  AUTHORS   Tan,H., Miao,M.X., Luo,R.X., So,J., Peng,L., Zhu,X., Leung,E.H.W.,
            Zhu,L., Chan,K.M., Cheung,M. and Chan,S.Y.
  TITLE     TSPYL1 as a Critical Regulator of TGFbeta Signaling through
            Repression of TGFBR1 and TSPYL2
  JOURNAL   Adv Sci (Weinh) 11 (21), e2306486 (2024)
   PUBMED   38588050
  REMARK    GeneRIF: TSPYL1 as a Critical Regulator of TGFbeta Signaling
            through Repression of TGFBR1 and TSPYL2.
REFERENCE   2  (bases 1 to 5073)
  AUTHORS   Buyse,G., Di Michele,M., Wijgaerts,A., Louwette,S.,
            Wittevrongel,C., Thys,C., Downes,K., Ceulemans,B., Van Esch,H., Van
            Geet,C. and Freson,K.
  TITLE     Unravelling the disease mechanism for TSPYL1 deficiency
  JOURNAL   Hum Mol Genet 29 (20), 3431-3442 (2020)
   PUBMED   33075815
  REMARK    GeneRIF: Unravelling the disease mechanism for TSPYL1 deficiency.
REFERENCE   3  (bases 1 to 5073)
  AUTHORS   Yang,X., Leng,X., Tu,W., Liu,Y., Xu,J., Pei,X., Ma,Y., Yang,D. and
            Yang,Y.
  TITLE     Spermatogenic phenotype of testis-specific protein, Y-encoded, 1
            (TSPY1) dosage deficiency is independent of variations in TSPY-like
            1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han
            Chinese population
  JOURNAL   Reprod Fertil Dev 30 (3), 555-562 (2018)
   PUBMED   28847364
  REMARK    GeneRIF: The expression of spermatogenic phenotypes of TSPY1
            defects is independent of variations in TSPYL1 and TSPYL5 in the
            Han Chinese population.
REFERENCE   4  (bases 1 to 5073)
  AUTHORS   Schubert,S., Haas,C., Bartsch,C., Mirshekarnejad,M., Kohrs,S.,
            Roettinger,I., Grosshennig,A., Stuhrmann,M., Scholz,C. and
            Schmidtke,J.
  TITLE     Variants in TSPYL1 are not associated with sudden infant death
            syndrome in a cohort of deceased infants from Switzerland
  JOURNAL   Mol Cell Probes 29 (1), 31-34 (2015)
   PUBMED   25449952
  REMARK    GeneRIF: Results show that mutations and polymorphisms in the
            TSPYL1 gene were not associated with sudden infant death syndrome
            in a cohort of 165 deceased Swiss infants.
REFERENCE   5  (bases 1 to 5073)
  AUTHORS   Armour,S.M., Bennett,E.J., Braun,C.R., Zhang,X.Y., McMahon,S.B.,
            Gygi,S.P., Harper,J.W. and Sinclair,D.A.
  TITLE     A high-confidence interaction map identifies SIRT1 as a mediator of
            acetylation of USP22 and the SAGA coactivator complex
  JOURNAL   Mol Cell Biol 33 (8), 1487-1502 (2013)
   PUBMED   23382074
REFERENCE   6  (bases 1 to 5073)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 5073)
  AUTHORS   Hering,R., Frade-Martinez,R., Bajanowski,T., Poets,C.F.,
            Tschentscher,F. and Riess,O.
  TITLE     Genetic investigation of the TSPYL1 gene in sudden infant death
            syndrome
  JOURNAL   Genet Med 8 (1), 55-58 (2006)
   PUBMED   16418600
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 5073)
  AUTHORS   Puffenberger,E.G., Hu-Lince,D., Parod,J.M., Craig,D.W.,
            Dobrin,S.E., Conway,A.R., Donarum,E.A., Strauss,K.A., Dunckley,T.,
            Cardenas,J.F., Melmed,K.R., Wright,C.A., Liang,W., Stafford,P.,
            Flynn,C.R., Morton,D.H. and Stephan,D.A.
  TITLE     Mapping of sudden infant death with dysgenesis of the testes
            syndrome (SIDDT) by a SNP genome scan and identification of TSPYL
            loss of function
  JOURNAL   Proc Natl Acad Sci U S A 101 (32), 11689-11694 (2004)
   PUBMED   15273283
REFERENCE   9  (bases 1 to 5073)
  AUTHORS   Scherl,A., Coute,Y., Deon,C., Calle,A., Kindbeiter,K.,
            Sanchez,J.C., Greco,A., Hochstrasser,D. and Diaz,J.J.
  TITLE     Functional proteomic analysis of human nucleolus
  JOURNAL   Mol Biol Cell 13 (11), 4100-4109 (2002)
   PUBMED   12429849
REFERENCE   10 (bases 1 to 5073)
  AUTHORS   Vogel,T., Dittrich,O., Mehraein,Y., Dechend,F., Schnieders,F. and
            Schmidtke,J.
  TITLE     Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1
            family
  JOURNAL   Cytogenet Cell Genet 81 (3-4), 265-270 (1998)
   PUBMED   9730615
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050331.11.
            
            On Sep 27, 2019 this sequence version replaced NM_003309.3.
            
            Summary: The protein encoded by this gene is found in the nucleolus
            and is similar to that of a family of genes on the Y-chromosome.
            This gene is intronless. Defects in this gene are a cause of sudden
            infant death with dysgenesis of the testes syndrome (SIDDT).
            [provided by RefSeq, Dec 2009].
            
            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##
            Transcript is intronless :: BC048969.1, AL136629.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368608.4/ ENSP00000357597.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5073              AL050331.11        102301-107373       c
FEATURES             Location/Qualifiers
     source          1..5073
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..5073
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /note="TSPY like 1"
                     /db_xref="GeneID:7259"
                     /db_xref="HGNC:HGNC:12382"
                     /db_xref="MIM:604714"
     exon            1..5073
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1414
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /note="TSPY-like protein 1"
                     /codon_start=1
                     /product="testis-specific Y-encoded-like protein 1"
                     /protein_id="NP_003300.1"
                     /db_xref="CCDS:CCDS34518.1"
                     /db_xref="GeneID:7259"
                     /db_xref="HGNC:HGNC:12382"
                     /db_xref="MIM:604714"
                     /translation="MSGLDGVKRTTPLQTHSIIISDQVPSDQDAHQYLRLRDQSEATQ
                     VMAEPGEGGSETVALPPPPPSEEGGVPQDAAGRGGTPQIRVVGGRGHVAIKAGQEEGQ
                     PPAEGLAAASVVMAADRSLKKGVQGGEKALEICGAQRSASELTAGAEAEAEEVKTGKC
                     ATVSAAVAERESAEVVKEGLAEKEVMEEQMEVEEQPPEGEEIEVAEEDRLEEEAREEE
                     GPWPLHEALRMDPLEAIQLELDTVNAQADRAFQQLEHKFGRMRRHYLERRNYIIQNIP
                     GFWMTAFRNHPQLSAMIRGQDAEMLRYITNLEVKELRHPRTGCKFKFFFRRNPYFRNK
                     LIVKEYEVRSSGRVVSLSTPIIWRRGHEPQSFIRRNQDLICSFFTWFSDHSLPESDKI
                     AEIIKEDLWPNPLQYYLLREGVRRARRRPLREPVEIPRPFGFQSG"
     regulatory      3183..3188
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /note="hexamer: AATAAA"
     polyA_site      3205
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /note="major polyA site"
     regulatory      3327..3332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /note="hexamer: ATTAAA"
     polyA_site      3353
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
     regulatory      5053..5058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
                     /note="hexamer: ATTAAA"
     polyA_site      5073
                     /gene="TSPYL1"
                     /gene_synonym="TSPYL"
ORIGIN      
        1 agtgagactg tagggtgggc ggtgcgagcg gcggttagct cccagttcgg cctctgagga
       61 aaacgggcgt tcgcctgcgg ttggtccgac tgttagcaac atgagcggcc tggatggggt
      121 caagaggacc actcccctcc aaacccacag catcattatt tctgaccaag tcccgagcga
      181 ccaggacgca caccagtacc tgaggctccg cgaccaaagc gaggcgacac aggtgatggc
      241 ggagccgggt gagggaggct cggagaccgt cgcgctcccg cctccaccgc cttcagagga
      301 ggggggcgta ccccaggatg ccgcgggccg tggcggtact ccccagatcc gagttgttgg
      361 gggtcgcggt catgtggcga tcaaagccgg gcaggaagag ggccagcctc ccgccgaagg
      421 cctggcagcc gcttctgtgg tgatggcagc cgaccgcagc ctgaaaaagg gcgttcaggg
      481 tggagagaag gccctagaaa tctgtggcgc ccagagatcc gcgtctgagc tgacggcggg
      541 ggcggaggct gaggcggagg aggtgaagac aggaaagtgc gccaccgtct cagcagccgt
      601 ggctgagagg gagagcgctg aggtggtgaa ggaaggcctg gcggagaagg aggtaatgga
      661 ggagcagatg gaggtagagg agcagccgcc agaaggtgaa gaaatagaag tggcggagga
      721 ggatagattg gaggaggagg cgagggagga agaagggccc tggcctttgc atgaggctct
      781 ccgcatggac cctctggagg ccatccagct ggaactggac actgtgaatg ctcaggccga
      841 cagggccttc caacagctgg agcacaagtt tgggcggatg cgtcgacact acctggagcg
      901 gaggaactac atcattcaga atatcccggg cttctggatg actgcttttc gaaaccaccc
      961 ccagttgtcc gccatgatta ggggccaaga tgcagagatg ttaaggtaca taaccaattt
     1021 agaggtgaag gaactcagac accctagaac cggttgcaag ttcaagttct tctttagaag
     1081 aaacccctac ttcagaaaca agctgattgt caaggaatat gaggtaagat cctccggccg
     1141 agtggtgtct ctttctactc caattatatg gcgcaggggg catgaacccc agtccttcat
     1201 tcgcagaaac caagacctca tctgcagctt cttcacttgg ttttcagacc acagccttcc
     1261 agagtccgac aaaattgctg agattattaa agaggatctg tggccaaatc cactgcaata
     1321 ctacctgttg cgtgaaggag tccgtagagc ccgacgtcgc ccgctaaggg agcctgtaga
     1381 gatccccagg ccctttgggt tccagtctgg ttaacatttg cccttgggaa tactcctgca
     1441 caaggtctcc taccaccttc tgctggacct gtgcttgggc atcagcaatg agtatgcctt
     1501 ctattgtgct ttgtttttgc tgacttttct gcaccctgtt tcctttggat attcagttct
     1561 ctcaacctca agattgagac ggtggtgggt atgcttctcc acttccatat gaccttcatg
     1621 ctgttctgga atatcacatg ctacgaggtc atccttcaca ctacttgtaa gccaagcaaa
     1681 tgatactgta gattgtactg cctttatctg cactgcttgg accctgttta ttcccagggc
     1741 ctctgaactg gttgctgtca cttggatttc tagctttggg agcctgttcc acctactcag
     1801 ctctgcattg agcagtatgg gcacatgccc tgtggacagt tactggacgt taatgaactc
     1861 agaggagaaa agcagtgagc cacttgttct gtgtgattta tggtacttca ttgctcttcc
     1921 ttcacctcta gtcactttct attgctacct gccctacatt ggctcctgcc aaggtccctc
     1981 tctctccctg ttttcctttt tttttttttt tttttttttt ttgagacgga ggacggagtc
     2041 ttgctctgtc gcccaggttg gagtgcagtg gcgcgatctc ggctcactgc aacctccacc
     2101 tcccgggttc aagcgattct cctgcctcag cctcccgagt agctgggact acaggcgcgc
     2161 gccgccacgc ccggctaatt tttatatttt tagtagagac ggggtttcac catgctggcc
     2221 aggctggtct cgaaccccga tctcgtgatc cgccctcctt agcctcccaa tcctctctta
     2281 aaaaagtgat agctcagaaa catttgtaaa agcaaggttt ttatttcatt ttggctctgt
     2341 cattttcaga ggcaaagaag ttggcctgta aaatagagtg ctagagctct tacgcccctc
     2401 cccttcttcc caacttccta cttcctagcc cttttatcaa ctcctagaat agttaaagag
     2461 agacacatct agatgggatg aaaggtgccc taagcaggag aaactgaaca aaaggctaga
     2521 ggcatgggcc aggtaaaaat tgggcctaga gtgaagactg tgctgtcgtt aagagctttc
     2581 gaggaaggag tacttactcc ccaatgatga tgaatggaaa aatacttttc agggagaatt
     2641 gaaggggtta aagtgttaaa tatgttgcct agacaagggt tctttaaaga aagacagcgc
     2701 aactttgaat gctttcttac ttgttttgtg acctaattta tgtggaagat tgttatttca
     2761 ttaggattta gtaaaatttt tttttctgat tctaaactta ttgtgaaaat tgagctgtac
     2821 agatattctt ttgatttcaa ttgggaacat ttggaagaac aacagtctta cttgcctgta
     2881 caatatagag acatatgaat agtcataaca gttttcaact tgttcttgtt tctgttaaac
     2941 tatattccta gaaacatagt ttgaacaact tggtctttgt taggcttgtc aaattgcctt
     3001 catggaaaaa taatctacaa aagtatggtt taattgattg tcttacatga taattttccc
     3061 tggtaacaac ttagtaagtg atatatcttt tttcctaaat tgcttaaata ctgtgaaatt
     3121 gctctgacaa attggaagtg taccattggc atatttgtct tcctttttat gcatgatggt
     3181 aaaataaaag catgttgttc tgctagattt cttatttttc accttaccca taaatgtaat
     3241 gcttgaatga agttgttcat attaattaaa aattatggaa tcattaaagt cctttaatcc
     3301 attaaagttc ttaatggatt aaaatcatta aagttcttaa tggattaaaa tcattaaagt
     3361 ccttaaattg atgttaacta aaaattacag aatcattaaa gtccttaaat ggacacaata
     3421 gacattatcc caaagagaag aaagcagggc acggtatgtt tggtaccttc caaggtagtt
     3481 tgccttaaaa cgttagcagt tgcaactgct tactcaatca cttttttcca tgtagtttat
     3541 gcagcacaac ctccccttca gttgctcaaa tcctccattt ctgtctccat aaattatatt
     3601 ctcaggttat tcaggctctt ctttttatta acttgtatgc agggagtacc tatcatatgt
     3661 gatgtactcc tctattttca tactttctca tctgtaaaaa cttccttttt ttctttaaac
     3721 ttcctcactg ttctcttctg tcaaatcctt caaggcctgc ccttggtaat tcctctgcca
     3781 aagtctttct gttccccata gaggagataa atgtttcttt atgcacttag tgtactttgg
     3841 agggacctct gttctagaaa attaacataa ttattcatta cagtgaattc cacaaataga
     3901 gaaaaagagt aagaagataa agtccattcc cttctttggg gaactgggga aggactgata
     3961 agcaaacaaa gaattaacag agtgatacag taaaataaaa tacagagatt atattttcat
     4021 gtttttccca tgttcactct tttcctctca gtagtttgga aactttgtga aagtggagat
     4081 gcagtgcatt ttacatggtt cattgcatct agcatttttt tttttttttt ttgagataga
     4141 gtcccactct tgcccaggct ggagcgcaag tggcgcgatc tcggctcact gcaacttccg
     4201 cctcccggtt tcaagcagtt ctccagcatc agcctcccga gtagctggga ctacaggcac
     4261 gtgctaccac gcccggctaa ttttttgtat ttttagtaga gatggggttt caccatgtta
     4321 gccaggatgg tctccatctc ctgacctcgt gatcagccca cctcagcctc ccaaagtgct
     4381 gggattacag gcgtgagcca ccgcacccag cccatctagc ataatgtttt gcatagttgt
     4441 cagcagataa atattgaatg acaaaactca gatggaggaa aaagaacaaa ataacctagt
     4501 tctcagaaag atttaatgag caaatgggaa aatgtcaaaa agatttgcaa tgccattcct
     4561 aaataactat ttcccctttt agtcattaga aaacgtctaa acactttcaa cattaaatct
     4621 ttcacttgca ttttaacaga gcactactta attttgggtt accttttata tactttgtac
     4681 attttaaggt gattatactg gagatagaag ggggttagac tctagatgtg tgttgtccaa
     4741 tacagtaact tttagccacc agtggctatt gagcacttga aatgtggcta gtctgaattg
     4801 agatctataa atataaaatt cacactggat tttgaagact cagtatggaa agaaaaatgt
     4861 taaaatatct caattttttt catattgatt gcatgttgaa atatttttga cattgtgtta
     4921 aaatatattg aaaaattaat tatcctcatt ttgccattgt ttaatgtggc tactagtaaa
     4981 tctaaaatta cataggacag catgtctcga cttcctgagg aatatctgaa agcatataaa
     5041 atatctgtaa aaattaaaca tgttaatact ttc
//
