LOCUS       NM_005802               4131 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens TOP1 binding arginine/serine rich protein, E3
            ubiquitin ligase (TOPORS), transcript variant 1, mRNA.
ACCESSION   NM_005802
VERSION     NM_005802.5
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 4131)
  AUTHORS   He,K., Zhou,Y. and Li,N.
  TITLE     Mutations of TOPORS identified in families with retinitis
            pigmentosa
  JOURNAL   Ophthalmic Genet 43 (3), 371-377 (2022)
   PUBMED   35254173
  REMARK    GeneRIF: Mutations of TOPORS identified in families with retinitis
            pigmentosa.
REFERENCE   2  (bases 1 to 4131)
  AUTHORS   Wang,J., Wang,Y., Jiang,Y., Li,X., Xiao,X., Li,S., Jia,X., Sun,W.,
            Wang,P. and Zhang,Q.
  TITLE     Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein
            Truncating Variants Are Exclusively Located in the Region of Amino
            Acid Residues 807 to 867
  JOURNAL   Invest Ophthalmol Vis Sci 63 (5), 19 (2022)
   PUBMED   35579903
  REMARK    GeneRIF: Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS
            Protein Truncating Variants Are Exclusively Located in the Region
            of Amino Acid Residues 807 to 867.
REFERENCE   3  (bases 1 to 4131)
  AUTHORS   Latasiewicz,M., Salvetti,A.P. and MacLaren,R.E.
  TITLE     A novel mutation in the dominantly inherited TOPORS gene supports
            haploinsufficiency as the mechanism of retinitis pigmentosa
  JOURNAL   Ophthalmic Genet 38 (6), 562-566 (2017)
   PUBMED   28453362
  REMARK    GeneRIF: A novel mutation of the TOPORS gene was identified,
            c.2539C>T p.(Arg847Ter), resulting in a premature termination codon
            and suggesting haploinsufficiency as the pathological mechanism.
REFERENCE   4  (bases 1 to 4131)
  AUTHORS   Czub,B., Shah,A.Z., Alfano,G., Kruczek,P.M., Chakarova,C.F. and
            Bhattacharya,S.S.
  TITLE     TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S
            Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene
  JOURNAL   PLoS One 11 (2), e0148678 (2016)
   PUBMED   26872363
  REMARK    GeneRIF: P26s4 Associates with the C-Terminal Region of TOPORS.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4131)
  AUTHORS   Papaioannou,M., Chakarova,C.F., Prescott,D.C., Waseem,N., Theis,T.,
            Lopez,I., Gill,B., Koenekoop,R.K. and Bhattacharya,S.S.
  TITLE     A new locus (RP31) for autosomal dominant retinitis pigmentosa maps
            to chromosome 9p
  JOURNAL   Hum Genet 118 (3-4), 501-503 (2005)
   PUBMED   16189705
REFERENCE   6  (bases 1 to 4131)
  AUTHORS   Weger,S., Hammer,E. and Heilbronn,R.
  TITLE     Topors, a p53 and topoisomerase I binding protein, interacts with
            the adeno-associated virus (AAV-2) Rep78/68 proteins and enhances
            AAV-2 gene expression
  JOURNAL   J Gen Virol 83 (Pt 3), 511-516 (2002)
   PUBMED   11842245
  REMARK    GeneRIF: Topors, a p53 and topoisomerase I binding protein,
            interacts with the adeno-associated virus (AAV-2) Rep78/68 proteins
            and enhances AAV-2 gene expression
REFERENCE   7  (bases 1 to 4131)
  AUTHORS   Chu,D., Kakazu,N., Gorrin-Rivas,M.J., Lu,H.P., Kawata,M., Abe,T.,
            Ueda,K. and Adachi,Y.
  TITLE     Cloning and characterization of LUN, a novel ring finger protein
            that is highly expressed in lung and specifically binds to a
            palindromic sequence
  JOURNAL   J Biol Chem 276 (17), 14004-14013 (2001)
   PUBMED   11278651
REFERENCE   8  (bases 1 to 4131)
  AUTHORS   Zhou,R., Wen,H. and Ao,S.Z.
  TITLE     Identification of a novel gene encoding a p53-associated protein
  JOURNAL   Gene 235 (1-2), 93-101 (1999)
   PUBMED   10415337
REFERENCE   9  (bases 1 to 4131)
  AUTHORS   Haluska,P. Jr., Saleem,A., Rasheed,Z., Ahmed,F., Su,E.W., Liu,L.F.
            and Rubin,E.H.
  TITLE     Interaction between human topoisomerase I and a novel RING
            finger/arginine-serine protein
  JOURNAL   Nucleic Acids Res 27 (12), 2538-2544 (1999)
   PUBMED   10352183
REFERENCE   10 (bases 1 to 4131)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA238762.1, BC060884.1,
            U82939.1, BU674865.1, BJ993131.1 and BQ007035.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_005802.4.
            
            Summary: This gene encodes a nuclear protein which is serine and
            arginine rich, and contains a RING-type zinc finger domain. It is
            highly expressed in the testis, and functions as an
            ubiquitin-protein E3 ligase. Mutations in this gene are associated
            with retinitis pigmentosa type 31. Alternatively spliced transcript
            variants, encoding different isoforms, have been observed for this
            locus. [provided by RefSeq, Sep 2010].
            
            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 :: SRR1803616.8885.1,
                                           SRR1803614.20080.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360538.7/ ENSP00000353735.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DA238762.1         43-60
            19-609              BC060884.1         1-591
            610-3411            U82939.1           310-3111
            3412-3868           BU674865.1         12-468              c
            3869-3935           BJ993131.1         161-227             c
            3936-4131           BQ007035.1         16-211              c
FEATURES             Location/Qualifiers
     source          1..4131
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     gene            1..4131
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /note="TOP1 binding arginine/serine rich protein, E3
                     ubiquitin ligase"
                     /db_xref="GeneID:10210"
                     /db_xref="HGNC:HGNC:21653"
                     /db_xref="MIM:609507"
     exon            1..153
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /inference="alignment:Splign:2.1.0"
     CDS             151..3288
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 1;
                     topoisomerase I binding, arginine/serine-rich, E3
                     ubiquitin protein ligase; SUMO1-protein E3 ligase Topors;
                     tumor suppressor p53-binding protein 3; topoisomerase
                     I-binding RING finger protein; RING-type E3 ubiquitin
                     transferase Topors"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase Topors isoform 1"
                     /protein_id="NP_005793.2"
                     /db_xref="CCDS:CCDS6527.1"
                     /db_xref="GeneID:10210"
                     /db_xref="HGNC:HGNC:21653"
                     /db_xref="MIM:609507"
                     /translation="MGSQPPLGSPLSREEGEAPPPAPASEGRRRSRRVRLRGSCRHRP
                     SFLGCRELAASAPARPAPASSEIMASAAKEFKMDNFSPKAGTSKLQQTVPADASPDSK
                     CPICLDRFDNVSYLDRCLHKFCFRCVQEWSKNKAECPLCKQPFDSIFHSVRAEDDFKE
                     YVLRPSYNGSFVTPDRRFRYRTTLTRERNASVYSPSGPVNRRTTTPPDSGVLFEGLGI
                     STRPRDVEIPQFMRQIAVRRPTTADERSLRKIQEQDIINFRRTLYRAGARVRNIEDGG
                     RYRDISAEFFRRNPACLHRLVPWLKRELTVLFGAHGSLVNIVQHIIMSNVTRYDLESQ
                     AFVSDLRPFLLNRTEHFIHEFISFARSPFNMAAFDQHANYDCPAPSYEEGSHSDSSVI
                     TISPDEAETQELDINVATVSQAPWDDETPGPSYSSSEQVHVTMSSLLNTSDSSDEELV
                     TGGATSQIQGVQTNDDLNNDSDDSSDNCVIVGFVKPLAERTPELVELSSDSEDLGSYE
                     KMETVKTQEQEQSYSSGDSDVSRCSSPHSVLGKDEQINKGHCDSSTRIKSKKEEKRST
                     SLSSPRNLNSSVRGDRVYSPYNHRHRKRGRSRSSDSRSQSRSGHDQKNHRKHHGKKRM
                     KSKRSRSRESSRPRGRRDKKRSRTRDSSWSRRSQTLSLSSESTSRSRSRSSDHGKRRS
                     RSRNRDRYYLRNNYGSRYKWEYTYYSRNKDRDGYESSYRRRTLSRAHYSRQSSSPEFR
                     VQSFSERTNARKKNNHSERKYYYYERHRSRSLSSNRSRTASTGTDRVRNEKPGGKRKY
                     KTRHLEGTNEVAQPSREFASKAKDSHYQKSSSKLDGNYKNESDTFSDSRSSDRETKHK
                     RRKRKTRSLSVEIVYEGKATDTTKHHKKKKKKHKKKHKKHHGDNASRSPVVITIDSDS
                     DKDSEVKEDTECDNSGPQDPLQNEFLAPSLEPFETKDVVTIEAEFGVLDKECDIATLS
                     NNLNNANKTVDNIPPLAASVEQTLDVREESTFVSDLENQPSNIVSLQTEPSRQLPSPR
                     TSLMSVCLGRDCDMS"
     exon            154..348
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /inference="alignment:Splign:2.1.0"
     exon            349..4131
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3876..3881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /note="hexamer: AATAAA"
     polyA_site      3904
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /note="major polyA site"
     regulatory      4106..4111
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /note="hexamer: AATAAA"
     polyA_site      4131
                     /gene="TOPORS"
                     /gene_synonym="LUN; P53BP3; RP31; TP53BPL"
                     /note="major polyA site"
ORIGIN      
        1 aattcaggaa tggattttgg agtttctggg tgctgaagaa atagggcctt tccgcctgcg
       61 ggcccagtga gtcgacacgg tgggggcccg cgatccccgg gacttaccac tgaataaatc
      121 cagtccagcg tgcgacgact tactggcttc atggggtcgc agccgccgct ggggtctccg
      181 ctgtctcgcg aggagggtga agcgcccccg cctgctcccg cttcggaggg taggcggaga
      241 agtcgccggg tacgccttcg cggatcctgc cgacaccgac ctagctttct gggctgccgg
      301 gagctcgcgg cgagcgcccc agccaggcct gcgccggcat cctccgagat aatggcatca
      361 gctgctaagg aatttaaaat ggacaacttt tcacctaaag ctggcactag caaattgcaa
      421 cagacagtac cagctgatgc atctcctgat tctaagtgtc ctatatgctt ggatagattt
      481 gataatgtgt cttacttaga tcgctgctta cataagttct gttttcgctg tgtacaggag
      541 tggtcaaaaa acaaagctga atgcccacta tgtaaacagc cctttgattc tattttccat
      601 tctgtgaggg cagaagatga cttcaaggag tatgtcctaa ggccttcgta taatggttct
      661 tttgtcaccc ctgatcgacg atttcgctac cgtacaactc tgacaaggga acgaaatgct
      721 tctgtgtatt cacctagtgg tcctgtgaac agaagaacaa caactccacc ggatagtgga
      781 gtactgtttg aagggttagg catttcaaca agacctagag atgttgaaat tcctcagttt
      841 atgagacaga ttgcagtaag gaggccaact acggcagatg aaagatcttt gcggaaaatt
      901 caagaacaag atattattaa ttttagacga actctttatc gtgctggtgc tcgagttaga
      961 aatattgaag atggtggccg ctacagggat atttcagctg aatttttccg tagaaatcca
     1021 gcttgccttc acagattagt cccctggtta aaacgtgaac ttacagttct ttttggagct
     1081 catggatctt tagtgaatat tgtccagcat attatcatga gtaatgttac tcgctatgac
     1141 ttggagagtc aggcatttgt gtctgattta agaccatttt tacttaatcg aactgagcat
     1201 tttatacatg aatttatcag ttttgcccga tctcctttta acatggcagc ctttgaccag
     1261 catgccaatt atgattgccc tgctccttca tacgaagaag gcagccattc tgattcttca
     1321 gtcataacaa tatctccaga tgaggctgag acccaagagc tggatattaa tgtagccact
     1381 gttagtcagg caccatggga tgatgaaact ccaggaccat cttactcaag ctcagagcag
     1441 gtacacgtta ctatgtcttc tcttttaaat acttctgaca gttcagatga agaacttgtc
     1501 acaggaggag ccacgtctca gatacaagga gtacaaacca atgacgacct aaataatgac
     1561 agtgatgatt cttcagataa ttgtgtcatt gttgggtttg ttaaaccact agctgagagg
     1621 accccagaac ttgttgaact gtcctctgat tctgaggact taggttctta tgagaaaatg
     1681 gagacagtga agacacaaga acaggagcaa tcttacagtt ctggtgatag cgatgttagt
     1741 agatgctcat ctccacactc tgtccttgga aaggatgaac aaataaataa aggtcattgt
     1801 gattctagta caagaatcaa atcaaagaag gaagagaaac gatctacatc attgtcatct
     1861 cccagaaacc tgaactcatc tgtaagagga gacagagtat attctccata taaccataga
     1921 cacagaaaga ggggaagatc aagaagttca gattcacgtt ctcagagtag aagtgggcat
     1981 gatcagaaga atcatagaaa gcatcatggg aagaaaagaa tgaaaagtaa acgatccaga
     2041 agcagggaaa gtagcagacc tagagggaga agagacaaaa agagatcaag aactagagat
     2101 agcagttggt ccagaagaag ccaaactctg tctctaagta gtgaaagcac aagcagatca
     2161 aggtctcgta gcagtgatca tggtaaaaga agatcacgga gcagaaatag agatcgttat
     2221 tatttaagaa ataattatgg aagcagatac aaatgggagt atacttatta cagtagaaac
     2281 aaggacaggg atgggtacga atcatcttac aggaggagga ctctgtccag agctcattat
     2341 tctagacagt cttcaagtcc agaatttaga gttcagtcct tttctgaaag aacaaatgct
     2401 aggaaaaaaa ataatcacag tgagaggaag tattactact atgaaaggca cagatcaagg
     2461 agcctgtcta gtaacagatc aaggactgca tctaccggga ctgaccgggt gagaaatgaa
     2521 aagcctggag ggaaacgaaa atacaaaaca cggcatttgg agggtactaa cgaagtggct
     2581 cagccatctc gtgaatttgc ttctaaagca aaggacagtc attaccaaaa atcttcatca
     2641 aaattggatg gaaactacaa aaatgagagt gatacctttt cagacagccg atcatcagac
     2701 agagagacaa aacacaaaag gagaaaaagg aagacccgga gcctaagtgt agagatagtt
     2761 tatgaaggaa aagctactga tacaactaaa caccataaaa agaaaaagaa gaaacataag
     2821 aagaagcata agaaacacca tggagataat gcttcacgtt ccccagttgt aattaccatt
     2881 gacagtgaca gtgataagga ttctgaagta aaggaggata cagaatgtga caatagtggt
     2941 cctcaagacc ctctacaaaa tgagtttttg gctccttcct tggaaccatt tgaaactaaa
     3001 gatgtagtta caatagaagc tgaatttggt gtgctggaca aggaatgtga tattgccaca
     3061 cttagtaaca acttgaataa tgccaacaaa actgtagata atattccacc tctggcagct
     3121 tcagttgaac aaactctcga tgtaagagaa gagagcacct ttgtttctga tttggagaac
     3181 cagcccagta acattgtgtc tcttcaaact gagccatcaa ggcaattgcc atcgccacgg
     3241 acatcattaa tgtcagtatg tcttggtaga gactgtgata tgtcttaaaa ctgccaaagc
     3301 atttcattga gaattatgat gttataaaaa ggaaaaagga agaatgtcgt ctactgcagt
     3361 ctatttaaag atgacatttg gtgaaaactc tcttcctcct tacaatattt taaatgattt
     3421 tttttttggt gttaatttgt aaaaatcatt atttgttcaa aatgtatgtc ccaccctcaa
     3481 agatatgcac ttttaagtga agaaaatgat actgctagca gcttatttaa aacttggggt
     3541 cctttttaaa taagaaaaat tatataaatt ttagaagtta tttcataaag ccatacggta
     3601 ttgacatatt tttaaggtag tcaatgagta tttttgaatt tttttttttt gagagttatt
     3661 ctggaaatgt gttataagct aggagaatcc ctttggacag tctttatttt tcttcttaaa
     3721 aatttatatg attcaaaacc atttcttcag gttaaattga ggcattttaa tctgcacagt
     3781 ttatcttctg ccaaaataaa aatttactat ttcctttata tacttgttta tctggactgc
     3841 cagtaaaaca aatgtgtatt caacaaaaga aaaaaaataa aacagtaaca ctttaaaaca
     3901 agaatcagac attttcctat gcagtatttt tttttaaagt ttattttagt aaagttaaaa
     3961 tcttgaaagt agctaagggc ataattatgt cataaatact gaacttcagg tgaacaaata
     4021 ctttatagtt ttaattattt tctttgattt tgaggagtat cttatttgct ttctatcatc
     4081 agtaaaaaca gcatttaact tgctaaataa acatgaaaaa cccttgtcat a
//
