LOCUS       NM_018105               2161 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens THAP domain containing 1 (THAP1), transcript variant
            1, mRNA.
ACCESSION   NM_018105
VERSION     NM_018105.3
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 2161)
  AUTHORS   Cheng,F., Zheng,W., Barbuti,P.A., Bonsi,P., Liu,C., Casadei,N.,
            Ponterio,G., Meringolo,M., Admard,J., Dording,C.M., Yu-Taeger,L.,
            Nguyen,H.P., Grundmann-Hauser,K., Ott,T., Houlden,H., Pisani,A.,
            Kruger,R. and Riess,O.
  TITLE     DYT6 mutated THAP1 is a cell type dependent regulator of the SP1
            family
  JOURNAL   Brain 145 (11), 3968-3984 (2022)
   PUBMED   35015830
  REMARK    GeneRIF: DYT6 mutated THAP1 is a cell type dependent regulator of
            the SP1 family.
REFERENCE   2  (bases 1 to 2161)
  AUTHORS   Yellajoshyula,D., Rogers,A.E., Kim,A.J., Kim,S., Pappas,S.S. and
            Dauer,W.T.
  TITLE     A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and
            loss of YY1 binding
  JOURNAL   Hum Mol Genet 31 (7), 1096-1104 (2022)
   PUBMED   34686877
  REMARK    GeneRIF: A pathogenic DYT-THAP1 dystonia mutation causes
            hypomyelination and loss of YY1 binding.
REFERENCE   3  (bases 1 to 2161)
  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
  REMARK    GeneRIF: Dystonia-specific mutations in THAP1 alter transcription
            of genes associated with neurodevelopment and myelin.
REFERENCE   4  (bases 1 to 2161)
  AUTHORS   Baumann,H., Ott,F., Weber,J., Trilck-Winkler,M., Munchau,A.,
            Zittel,S., Kostic,V.S., Kaiser,F.J., Klein,C., Busch,H., Seibler,P.
            and Lohmann,K.
  TITLE     Linking Penetrance and Transcription in DYT-THAP1: Insights From a
            Human iPSC-Derived Cortical Model
  JOURNAL   Mov Disord 36 (6), 1381-1391 (2021)
   PUBMED   33547842
  REMARK    GeneRIF: Linking Penetrance and Transcription in DYT-THAP1:
            Insights From a Human iPSC-Derived Cortical Model.
REFERENCE   5  (bases 1 to 2161)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 2161)
  AUTHORS   Carbon,M., Su,S., Dhawan,V., Raymond,D., Bressman,S. and
            Eidelberg,D.
  TITLE     Regional metabolism in primary torsion dystonia: effects of
            penetrance and genotype
  JOURNAL   Neurology 62 (8), 1384-1390 (2004)
   PUBMED   15111678
  REMARK    GeneRIF: FDG PET was used to scan [brain glucose metabolism] in 12
            nonmanifesting and 11 manifesting DYT1 gene carriers, 6
            nonmanifesting DYT6 gene carriers and 7 manifesting DYT6 gene
            carriers
REFERENCE   7  (bases 1 to 2161)
  AUTHORS   Roussigne,M., Cayrol,C., Clouaire,T., Amalric,F. and Girard,J.P.
  TITLE     THAP1 is a nuclear proapoptotic factor that links
            prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies
  JOURNAL   Oncogene 22 (16), 2432-2442 (2003)
   PUBMED   12717420
REFERENCE   8  (bases 1 to 2161)
  AUTHORS   Roussigne,M., Kossida,S., Lavigne,A.C., Clouaire,T., Ecochard,V.,
            Glories,A., Amalric,F. and Girard,J.P.
  TITLE     The THAP domain: a novel protein motif with similarity to the
            DNA-binding domain of P element transposase
  JOURNAL   Trends Biochem Sci 28 (2), 66-69 (2003)
   PUBMED   12575992
REFERENCE   9  (bases 1 to 2161)
  AUTHORS   Almasy,L., Bressman,S.B., Raymond,D., Kramer,P.L., Greene,P.E.,
            Heiman,G.A., Ford,B., Yount,J., de Leon,D., Chouinard,S.,
            Saunders-Pullman,R., Brin,M.F., Kapoor,R.P., Jones,A.C., Shen,H.,
            Fahn,S., Risch,N.J. and Nygaard,T.G.
  TITLE     Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite
            families
  JOURNAL   Ann Neurol 42 (4), 670-673 (1997)
   PUBMED   9382482
REFERENCE   10 (bases 1 to 2161)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087533.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018105.2.
            
            Summary: The protein encoded by this gene contains a THAP domain, a
            conserved DNA-binding domain. This protein colocalizes with the
            apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia
            (PML) nuclear bodies, and functions as a proapoptotic factor that
            links PAWR to PML nuclear bodies. Alternatively spliced transcript
            variants encoding distinct isoforms have been observed. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK001339.1, SRR1803612.181542.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01820691, SAMN03267764
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254250.7/ ENSP00000254250.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-302               AC087533.7         32869-33170
            303-498             AC087533.7         36813-37008
            499-2161            AC087533.7         37858-39520
FEATURES             Location/Qualifiers
     source          1..2161
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..2161
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /note="THAP domain containing 1"
                     /db_xref="GeneID:55145"
                     /db_xref="HGNC:HGNC:20856"
                     /db_xref="MIM:609520"
     exon            1..302
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /inference="alignment:Splign:2.1.0"
     CDS             232..873
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     4833431A01Rik; nuclear proapoptotic factor; THAP domain
                     protein 1; THAP domain-containing protein 1; THAP domain
                     containing, apoptosis associated protein 1"
                     /codon_start=1
                     /product="THAP domain-containing protein 1 isoform 1"
                     /protein_id="NP_060575.1"
                     /db_xref="CCDS:CCDS6136.1"
                     /db_xref="GeneID:55145"
                     /db_xref="HGNC:HGNC:20856"
                     /db_xref="MIM:609520"
                     /translation="MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKN
                     FKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTIFLCTEPHDKKEDLLEPQEQLPP
                     PPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLR
                     KKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA"
     exon            303..498
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /inference="alignment:Splign:2.1.0"
     exon            499..2161
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /note="hexamer: ATTAAA"
     polyA_site      2161
                     /gene="THAP1"
                     /gene_synonym="DYT6"
                     /note="major polyA site"
ORIGIN      
        1 gaagctgcct ccgccatctt ggagatggga gacgggcgat ggctgtggtc cttctgctaa
       61 tgcaaacaac aaaacgggca cactagtcac ccccgaggga ggccaccatc actgtaactg
      121 ttggccaaag ctacaaaaga agcgagggaa tccaaccgag cgcagcgaca ctgagaacag
      181 cttcccctgc cttctgcggc ggcagaagtg aagtgcctga ggaccggaag gatggtgcag
      241 tcctgctccg cctacggctg caagaaccgc tacgacaagg acaagcccgt ttctttccac
      301 aagtttcctc ttactcgacc cagtctttgt aaagaatggg aggcagctgt cagaagaaaa
      361 aactttaaac ccaccaagta tagcagtatt tgttcagagc actttactcc agactgcttt
      421 aagagagagt gcaacaacaa gttactgaaa gagaatgctg tgcccacaat atttctttgt
      481 actgagccac atgacaagaa agaagatctt ctggagccac aggaacagct tcccccacct
      541 cctttaccgc ctcctgtttc ccaggttgat gctgctattg gattactaat gccgcctctt
      601 cagacccctg ttaatctctc agttttctgt gaccacaact atactgtgga ggatacaatg
      661 caccagcgga aaaggattca tcagctagaa cagcaagttg aaaaactcag aaagaagctc
      721 aagaccgcac agcagcgatg cagaaggcaa gaacggcagc ttgaaaaatt aaaggaggtt
      781 gttcacttcc agaaagagaa agacgacgta tcagaaagag gttatgtgat tctaccaaat
      841 gactactttg aaatagttga agtaccagca taaaaaaatg aaatgtgtat tgatttctaa
      901 tggggcaata ccacatatcc tcctctagcc tgtaaaggag tttcatttaa aaaaataaca
      961 tttgattact tatataaaaa cagttcagaa tattttttta aaaaaaattc tatatatact
     1021 gtaaaattat aaattttttt gtttgtaatt tcaggttttt tacattttaa caaaatattt
     1081 taaaagttat aaactaacct cagacctcta atgtaagttg gtttcaagat tggggatttt
     1141 ggggtttttt tttagtattt atagaaataa tgtaaaaata aaaagtaaag agaatgagaa
     1201 cagtgtggta aaagggtgat ttcagtttaa aacttaaaat tagtactgtt ttattgagag
     1261 aatttagtta tattttaaat cagaagtatg ggtcagatca tgggacataa cttcttagaa
     1321 tatatatata catatgtaca tattctcata tgtaaagtca caaggttcat ttatctttct
     1381 gaatcagtta tcaaagataa attggcaagt cagtacttaa gaaaaaagat ttgattatca
     1441 tcacagcaga aaaaagtcat tgcatatctg atcaataact tcagattcta agagtggatt
     1501 tttttttttt acatgggctc ctattttttc ccctactgtc ttgcattata aaattagaag
     1561 tgtattttca gtggaagaaa catttttcaa taaataaagt aaggcattgt catcaatgaa
     1621 gtaattaaaa ctgggacctg atctatgata cgcttttttc tttcattaca ccctagctga
     1681 aggacatcca gttccccagc tgtagttatg tatctgcctt caagtctctg acaaatgtgc
     1741 tgtgttagta gagtttgatt tgtatcatat gataatcttg cacttgactg agttgggaca
     1801 aggcttcaca taaaaaatta tttcttcact tttaacacaa gttagaaatt atatcccatt
     1861 tagttaagtg cgtgatttat attcagaaca acctactatg tagcgtttat tttactgaat
     1921 gtggagattt aaacactgag gtttctgttc aaactgtgag ttctgttctt tgtgagaaat
     1981 tttacatata ttggaagtga aaatatgttc tgagtaaaca aatattgcta tgggagttat
     2041 ctttttagat ttagaataac tgttccaatg ataattatta cttttatatt tcaaagtaca
     2101 ctaagatcgt tgaagagcaa tagaaccttt aagacagtat taaaggtgtg aaacaatggc
     2161 a
//
