LOCUS       NM_199042               2267 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus THAP domain containing, apoptosis associated protein 1
            (Thap1), mRNA.
ACCESSION   NM_199042 XM_134061
VERSION     NM_199042.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2267)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   van der Heijden,M.E., Brown,A.M. and Sillitoe,R.V.
  TITLE     Influence of data sampling methods on the representation of neural
            spiking activity in vivo
  JOURNAL   iScience 25 (11), 105429 (2022)
   PUBMED   36388953
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Frederick,N.M., Pooler,M.M., Shah,P., Didonna,A. and Opal,P.
  TITLE     Pharmacological perturbation reveals deficits in D2 receptor
            responses in Thap1 null mice
  JOURNAL   Ann Clin Transl Neurol 8 (12), 2302-2308 (2021)
   PUBMED   34802187
  REMARK    GeneRIF: Pharmacological perturbation reveals deficits in D2
            receptor responses in Thap1 null mice.
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Domingo,A., Yadav,R., Shah,S., Hendriks,W.T., Erdin,S., Gao,D.,
            O'Keefe,K., Currall,B., Gusella,J.F., Sharma,N., Ozelius,L.J.,
            Ehrlich,M.E., Talkowski,M.E. and Bragg,D.C.
  TITLE     Dystonia-specific mutations in THAP1 alter transcription of genes
            associated with neurodevelopment and myelin
  JOURNAL   Am J Hum Genet 108 (11), 2145-2158 (2021)
   PUBMED   34672987
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Shinoda,K., Zong,D., Callen,E., Wu,W., Dumitrache,L.C., Belinky,F.,
            Chari,R., Wong,N., Ishikawa,M., Stanlie,A., Multhaupt-Buell,T.,
            Sharma,N., Ozelius,L., Ehrlich,M., McKinnon,P.J. and Nussenzweig,A.
  TITLE     The dystonia gene THAP1 controls DNA double-strand break repair
            choice
  JOURNAL   Mol Cell 81 (12), 2611-2624 (2021)
   PUBMED   33857404
  REMARK    GeneRIF: The dystonia gene THAP1 controls DNA double-strand break
            repair choice.
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Aguilo,F., Zakirova,Z., Nolan,K., Wagner,R., Sharma,R., Hogan,M.,
            Wei,C., Sun,Y., Walsh,M.J., Kelley,K., Zhang,W., Ozelius,L.J.,
            Gonzalez-Alegre,P., Zwaka,T.P. and Ehrlich,M.E.
  TITLE     THAP1: Role in Mouse Embryonic Stem Cell Survival and
            Differentiation
  JOURNAL   Stem Cell Reports 9 (1), 92-107 (2017)
   PUBMED   28579396
  REMARK    GeneRIF: Wild-type THAP1 regulates embryonic stem cell (ESC)
            potential, survival, and proliferation. Loss of THAP1 or
            replacement with a disease-causing mutation results in an enhanced
            rate of cell death, prolongs Nanog, Prdm14, and/or Rex1 expression
            upon differentiation, and results in failure to upregulate
            ectodermal genes.
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Yellajoshyula,D., Liang,C.C., Pappas,S.S., Penati,S., Yang,A.,
            Mecano,R., Kumaran,R., Jou,S., Cookson,M.R. and Dauer,W.T.
  TITLE     The DYT6 Dystonia Protein THAP1 Regulates Myelination within the
            Oligodendrocyte Lineage
  JOURNAL   Dev Cell 42 (1), 52-67 (2017)
   PUBMED   28697333
  REMARK    GeneRIF: These studies establish a role for THAP1 transcriptional
            regulation at the inception of myelination and implicate abnormal
            timing of myelination in the pathogenesis of childhood-onset
            dystonia.
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Ruiz,M., Perez-Garcia,G., Ortiz-Virumbrales,M., Meneret,A.,
            Morant,A., Kottwitz,J., Fuchs,T., Bonet,J., Gonzalez-Alegre,P.,
            Hof,P.R., Ozelius,L.J. and Ehrlich,M.E.
  TITLE     Abnormalities of motor function, transcription and cerebellar
            structure in mouse models of THAP1 dystonia
  JOURNAL   Hum Mol Genet 24 (25), 7159-7170 (2015)
   PUBMED   26376866
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Lewandowski,J.P., Du,F., Zhang,S., Powell,M.B., Falkenstein,K.N.,
            Ji,H. and Vokes,S.A.
  TITLE     Spatiotemporal regulation of GLI target genes in the mammalian limb
            bud
  JOURNAL   Dev Biol 406 (1), 92-103 (2015)
   PUBMED   26238476
REFERENCE   10 (bases 1 to 2267)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093366.9 and AC154102.15.
            
            On Mar 1, 2008 this sequence version replaced NM_199042.1.
            
            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 exon combination :: SRR1660821.73596.1,
                                           SRR1660813.222733.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-353               AC093366.9         5533-5885           c
            354-549             AC093366.9         3084-3279           c
            550-2169            AC093366.9         1-1620              c
            2170-2267           AC154102.15        17309-17406
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 14.4 cM"
     gene            1..2267
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /note="THAP domain containing, apoptosis associated
                     protein 1"
                     /db_xref="GeneID:73754"
                     /db_xref="MGI:MGI:1921004"
     exon            1..353
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             283..915
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /codon_start=1
                     /product="THAP domain-containing protein 1"
                     /protein_id="NP_950243.1"
                     /db_xref="CCDS:CCDS22208.1"
                     /db_xref="GeneID:73754"
                     /db_xref="MGI:MGI:1921004"
                     /translation="MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKQWEAAVKRKN
                     FKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIFLYIEPHEKKEDLESQEQLPSP
                     SPPASQVDAAIGLLMPPLQTPDNLSVFCDHNYTVEDTMHQRKRILQLEQQVEKLRKKL
                     KTAQQRCRRQERQLEKLKEVVHFQREKDDASERGYVILPNDYFEIVEVPA"
     exon            354..549
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            550..2267
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2245..2250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /note="hexamer: ATTAAA"
     polyA_site      2267
                     /gene="Thap1"
                     /gene_synonym="4833431A01Rik"
                     /note="major polyA site"
ORIGIN      
        1 cggcgagccg agtcctcgcg agaggtgagg ctgaagctgc ctccgccatc ttgaagatgg
       61 gagacgggcg acagctgtgg tccttctgct aaagcaaacc ccacaacgga cagggtagtc
      121 actcccccac cccaaccccc accccacggc gaggtgatcg tccccgtaac tgctgaccga
      181 cgccaccgag agcggcgagc gttatcaagg ccgagcgcgg cgaccccgac ggcccccttc
      241 gcctgcctcc cgggccgaag ggaagtgtgg agggccagaa ggatggtgca gtcctgctcc
      301 gcctacggct gcaagaaccg ctacgacaag gacaagcccg tctccttcca caagtttcct
      361 cttactcgcc ccagcctttg taagcagtgg gaggcagctg ttaaaaggaa aaacttcaag
      421 cccaccaagt acagcagcat ctgctcggag cacttcaccc cggactgctt taagagggag
      481 tgcaacaaca agctactgaa ggagaacgct gtgcccacaa tatttctcta tatcgagcca
      541 catgagaaga aggaagacct ggaatcccaa gaacagctcc cctctccttc accccccgct
      601 tcccaggttg atgctgctat tgggctgcta atgccccctc tgcagacccc tgataacctg
      661 tcggttttct gtgaccacaa ttacactgtg gaggatacga tgcaccagag gaagaggatc
      721 ctgcagctgg agcagcaggt ggagaaactc aggaagaagc tcaagacggc ccagcagcgg
      781 tgccggcggc aggagaggca gctcgagaag ctcaaggaag tcgtccactt tcagagagag
      841 aaggacgacg cgtccgagag gggctacgtg atcctaccaa atgactactt tgaaattgtt
      901 gaagttccag catgaaaaaa tgagatgtgt tagtgggaca agactataca ccttctttta
      961 gcctacatac aggagttcat ttgaaaaaat aacacttaat tacttgtatt aaaaaaacaa
     1021 tattttttta aaataaatta gatatatact gtaaaattgt aatttttttg tttgtaattt
     1081 cagagtttct acattttaac aaatatttaa aaaatcctta aaccaccaat ataatgttgt
     1141 atattggttt caagatggtg gattgttttt catttgagta tttatagaaa taatgtaaaa
     1201 ataaaaagta gagagggtga tggtatgata aaatgattta agtttaaaaa ttaatgccct
     1261 ttattgagat aacttataat ttaaatcaga tgtttaagtg agagcatagg acagagcctt
     1321 tcagaatata gaggtataca tacacacatt ttgtatttat agccagagct tcatttattt
     1381 ttctcaatca cttatcaaaa atgaactgtc aagccagtat ttgaggcaaa caatattttg
     1441 ctgtcttcag aaaaatcatt ccatagttaa tagtttcata aagagtagtt ttaagagtag
     1501 atcctttttg tccctagcgt tatgaaatta gaagtgtgtc ttggggagtg gcaggcctcc
     1561 aatcaggtat tggcatcagt gaagagaaaa ttgggggcgg ggctggagag atgtttcagt
     1621 ggttgaaggt tcgtgcaagc ctcgctgcct gggtttaacc cctggggccc atgtaaaggt
     1681 ggaaggagag aaccactcca cagagtcacc ttcaggtccc catgtgtgct gtgacaacct
     1741 tctaaagaaa gaaaagttgg gacctggctc ctaatatgct ctgatcatcc cctggcaaag
     1801 gcacccgatt ccacagctgt agttaaatct gcattcagac ctctgacaga ttattttagt
     1861 agagtttggt ttgtactata ataccgtact ttgccctttg tacttaagtc tttgataaat
     1921 tttcccttaa ctgtatgatt ttggacaaga catttcatag aaaatatttt tttcaactct
     1981 taagttagaa gttatatcca atttactcca agtgacttac gttcaaaagt aatgtgtcgt
     2041 gtttgtgtcg ccgttgagac ttaaatattg cagtttctgt tcacactgtg gattgtgttc
     2101 tgtgagaaag gttacgtatg cttcaagtga aaatatgttc tgagtggaca agtgctgata
     2161 aaagaattct ctaggtgtag gagaaccgta ttttatatct cagaggacac tgtagctgaa
     2221 gaatagcgga cctttcaaga cagtattaaa gacatgttat tccagta
//
