2024-05-03 08:46:20, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001320964 900 bp mRNA linear PRI 30-DEC-2022 DEFINITION Homo sapiens testis specific protein Y-linked 1 (TSPY1), transcript variant 3, mRNA. ACCESSION NM_001320964 VERSION NM_001320964.2 KEYWORDS RefSeq. 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 900) 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 900) 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 900) AUTHORS Giguere K, Leblond FA, Goma-Matsetse E, Dave V, Behanzin L, Guedou FA 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 900) 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 900) 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 900) 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 900) AUTHORS Zhang JS, Yang-Feng TL, Muller U, Mohandas TK, de Jong PJ and Lau YF. 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 900) 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 900) 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 900) AUTHORS Arnemann J, Epplen JT, Cooke HJ, 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 BC121113.1 and AI002165.1. On Aug 14, 2020 this sequence version replaced NM_001320964.1. 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]. 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 exon combination :: BC121113.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-779 BC121113.1 5-783 780-900 AI002165.1 11-131 c FEATURES Location/Qualifiers source 1..900 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="Y" /map="Yp11.2" gene 1..900 /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..133 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 8 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1556182097" variation 17 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="t" /db_xref="dbSNP:1603142441" variation 21 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1379118618" variation 22 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1603142449" variation 29 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1394730875" variation 30 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1603142459" variation 38 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1290917158" CDS 47..712 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /note="isoform 3 is encoded by transcript variant 3; 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 3" /protein_id="NP_001307893.1" /db_xref="GeneID:7258" /db_xref="HGNC:HGNC:12381" /db_xref="MIM:480100" /translation="
MRPEGSLTYRVPERLRQGFCGVGRAAQALVELEPVNAQARKAFSRQREKMERRRKPHLDRRGAVIQSVPGFWANVIANHPQMSALITDEDEDMLSYMVSLEVGEEKHPVHLCKIMLFFRSNPYFQNKVITKEYLVNITEYRASHSTPIEWYPDYEVEAYRRRHHNSSLNFFNWFSDHNFAGSNKIAEILCKDLWRNPLQYYKRMKPPEEGTETSGDSQLLS"
misc_feature 161..649 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /note="Nucleosome assembly protein (NAP); Region: NAP; cl08298" /db_xref="CDD:447601" variation 58 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:1603142470" variation 60 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1556182135" variation 67 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:1603142485" variation 73 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:754351883" variation 85 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1603142497" exon 134..271 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 137 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:1311462417" variation 139 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:1208423297" variation 140 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:1288137239" variation 145 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:1488548781" variation 146 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:745768816" variation 149 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1240362123" variation 150 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:201424738" variation 155 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1192052574" variation 161 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:775446628" variation 164 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:749030159" variation 199 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1556182495" variation 217 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:772185599" variation 224 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1556182525" variation 235 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1603142681" variation 236 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1431837856" exon 272..349 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 290 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="t" /db_xref="dbSNP:1603142738" exon 350..461 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 354 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1297059542" variation 355 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="t" /db_xref="dbSNP:1342988681" variation 357 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:756757652" variation 361 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:780785122" variation 364 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:745321922" variation 374 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:756131625" variation 376 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:780067981" variation 377 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1275117981" variation 380 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1603142783" variation 381 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="g" /replace="t" /db_xref="dbSNP:749157835" variation 383 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1366442282" variation 388 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1603142795" variation 392 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:768481082" variation 394 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:773349562" variation 401 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:747291345" variation 402 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:771012234" variation 408 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:776707915" variation 412 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:759547669" variation 420 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1231837592" variation 427 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:770355301" variation 438 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1486450497" exon 462..607 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 471 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1215732327" variation 496 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1556182856" variation 501 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1603142842" variation 520 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1282047748" variation 524 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1453465763" variation 527 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1363870448" variation 543 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:1246391705" variation 584 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:763277112" variation 591 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1556182928" exon 608..689 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 622 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1603142880" variation 629 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:751830669" variation 635 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:761547400" variation 638 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1333134024" variation 645 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:767219205" variation 648 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="t" /db_xref="dbSNP:1377437524" variation 653 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="" /replace="a" /db_xref="dbSNP:1239149611" variation 665 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1277739251" variation 680 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:1358351478" variation 684 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1228984985" variation 685 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:749954093" variation 687 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1332965070" exon 690..900 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /inference="alignment:Splign:2.1.0" variation 696 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:771192571" variation 754 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1172453097" variation 758 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="g" /db_xref="dbSNP:781388283" variation 800..801 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="tt" /replace="ttt" /db_xref="dbSNP:2124353821" variation 803 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="t" /db_xref="dbSNP:1603143019" variation 825 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="c" /replace="g" /db_xref="dbSNP:2124353832" variation 884 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="c" /db_xref="dbSNP:1603143024" variation 894 /gene="TSPY1" /gene_synonym="CT78; DYS14; pJA923; TSPY" /replace="a" /replace="t" /db_xref="dbSNP:1603143026" ORIGIN
ggcccttcgcgcgcagtcccttagggggcgcctggaagcccggcgcatgcgccctgagggctcgctgacctaccgggtgccagagaggctgcggcagggtttctgtggcgtgggtcgggcagcacaggccttggtggagctggagccggttaatgcccaagccaggaaggccttttctcggcagcgggaaaagatggagcggaggcgcaagccccacctagaccgcagaggcgccgtcatccagagcgtccctggcttctgggccaatgttattgcaaaccacccccagatgtcagccctgatcactgacgaagatgaagacatgctgagctacatggtcagcctggaggtgggagaagagaagcatcctgttcatctctgcaagatcatgttgttctttcggagtaacccctacttccagaataaagtgattaccaaggaatatctggtgaacatcacagaatacagggcttctcattccactccaattgagtggtatccggattatgaagtggaggcctatcgccgcagacaccacaacagcagccttaacttcttcaactggttctctgaccacaacttcgcaggatctaacaagattgctgagatcctatgtaaggacctgtggcgcaatcccctgcaatactacaagaggatgaagccacctgaagagggaacagagacgtcaggggactcccagttgttgagttgaatatgatggagcatcagattttacctaatacagcagaactcctaaaaagttacagccatatgcaggacggcagtactcagcatggtcttatgcacaggaactaaaggaaaaagagatcgagtcacaaaaattcaggaagagggggtaaatgtggattgtatggaatgaaaaataaacattctcaagga
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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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