LOCUS       NM_001358291            3300 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens RecQ mediated genome instability 1 (RMI1), transcript
            variant 1, mRNA.
ACCESSION   NM_001358291 XM_005252211
VERSION     NM_001358291.2
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 3300)
  AUTHORS   Soniat,M.M., Nguyen,G., Kuo,H.C. and Finkelstein,I.J.
  TITLE     The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA
            resection motor proteins
  JOURNAL   J Biol Chem 299 (2), 102802 (2023)
   PUBMED   36529288
  REMARK    GeneRIF: The MRN complex and topoisomerase IIIa-RMI1/2 synchronize
            DNA resection motor proteins.
REFERENCE   2  (bases 1 to 3300)
  AUTHORS   Gonenc,I.I., Elcioglu,N.H., Martinez Grijalva,C., Aras,S.,
            Grossmann,N., Praulich,I., Altmuller,J., Kaulfuss,S., Li,Y.,
            Nurnberg,P., Burfeind,P., Yigit,G. and Wollnik,B.
  TITLE     Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome
  JOURNAL   Clin Genet 101 (5-6), 559-564 (2022)
   PUBMED   35218564
  REMARK    GeneRIF: Phenotypic spectrum of BLM- and RMI1-related Bloom
            syndrome.
REFERENCE   3  (bases 1 to 3300)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 3300)
  AUTHORS   Harami,G.M., Palinkas,J., Seol,Y., Kovacs,Z.J., Gyimesi,M.,
            Harami-Papp,H., Neuman,K.C. and Kovacs,M.
  TITLE     The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's
            syndrome helicase for efficient disruption of D-loops
  JOURNAL   Nat Commun 13 (1), 654 (2022)
   PUBMED   35115525
  REMARK    GeneRIF: The toposiomerase IIIalpha-RMI1-RMI2 complex orients human
            Bloom's syndrome helicase for efficient disruption of D-loops.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3300)
  AUTHORS   Bakx,J.A.M., Biebricher,A.S., King,G.A., Christodoulis,P.,
            Sarlos,K., Bizard,A.H., Hickson,I.D., Wuite,G.J.L. and
            Peterman,E.J.G.
  TITLE     Duplex DNA and BLM regulate gate opening by the human
            TopoIIIalpha-RMI1-RMI2 complex
  JOURNAL   Nat Commun 13 (1), 584 (2022)
   PUBMED   35102151
  REMARK    GeneRIF: Duplex DNA and BLM regulate gate opening by the human
            TopoIIIalpha-RMI1-RMI2 complex.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3300)
  AUTHORS   Bussen,W., Raynard,S., Busygina,V., Singh,A.K. and Sung,P.
  TITLE     Holliday junction processing activity of the BLM-Topo
            IIIalpha-BLAP75 complex
  JOURNAL   J Biol Chem 282 (43), 31484-31492 (2007)
   PUBMED   17728255
  REMARK    GeneRIF: BLM is stably associated with RMI1 protein.
REFERENCE   7  (bases 1 to 3300)
  AUTHORS   Raynard,S., Bussen,W. and Sung,P.
  TITLE     A double Holliday junction dissolvasome comprising BLM,
            topoisomerase IIIalpha, and BLAP75
  JOURNAL   J Biol Chem 281 (20), 13861-13864 (2006)
   PUBMED   16595695
  REMARK    GeneRIF: BLM, Topo IIIalpha, and BLAP75 constitute a dissolvasome
            complex that processes HR intermediates to limit DNA crossover
            formation
REFERENCE   8  (bases 1 to 3300)
  AUTHORS   Wu,L., Bachrati,C.Z., Ou,J., Xu,C., Yin,J., Chang,M., Wang,W.,
            Li,L., Brown,G.W. and Hickson,I.D.
  TITLE     BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous
            recombination intermediates
  JOURNAL   Proc Natl Acad Sci U S A 103 (11), 4068-4073 (2006)
   PUBMED   16537486
  REMARK    GeneRIF: BLAP75/RMI1 acts by recruiting TOPO IIIalpha to double
            Holliday junctions
REFERENCE   9  (bases 1 to 3300)
  AUTHORS   Yin,J., Sobeck,A., Xu,C., Meetei,A.R., Hoatlin,M., Li,L. and
            Wang,W.
  TITLE     BLAP75, an essential component of Bloom's syndrome protein
            complexes that maintain genome integrity
  JOURNAL   EMBO J 24 (7), 1465-1476 (2005)
   PUBMED   15775963
REFERENCE   10 (bases 1 to 3300)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL354733.15, AL732446.4 and BC039999.2.
            
            On Jun 2, 2019 this sequence version replaced NM_001358291.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC039999.2, SRR7346977.1165365.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000445877.6/ ENSP00000402433.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AL354733.15        181697-181783
            88-176              AL732446.4         13022-13110
            177-2544            AL732446.4         14264-16631
            2545-3300           BC039999.2         2566-3321
FEATURES             Location/Qualifiers
     source          1..3300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.32"
     gene            1..3300
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /note="RecQ mediated genome instability 1"
                     /db_xref="GeneID:80010"
                     /db_xref="HGNC:HGNC:25764"
                     /db_xref="MIM:610404"
     exon            1..87
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /inference="alignment:Splign:2.1.0"
     exon            88..176
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /inference="alignment:Splign:2.1.0"
     exon            177..3300
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..2090
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /note="BLM-associated protein 75 kDa; homolog of yeast
                     RecQ-mediated genome instability 1 (RMI1); BLM-associated
                     polypeptide, 75 kDa; RMI1, RecQ mediated genome
                     instability 1, homolog"
                     /codon_start=1
                     /product="recQ-mediated genome instability protein 1"
                     /protein_id="NP_001345220.1"
                     /db_xref="CCDS:CCDS6669.1"
                     /db_xref="GeneID:80010"
                     /db_xref="HGNC:HGNC:25764"
                     /db_xref="MIM:610404"
                     /translation="MNVTSIALRAETWLLAAWHVKVPPMWLEACINWIQEENNNVNLS
                     QAQMNKQVFEQWLLTDLRDLEHPLLPDGILEIPKGELNGFYALQINSLVDVSQPAYSQ
                     IQKLRGKNTTNDLVTAEAQVTPKPWEAKPSRMLMLQLTDGIVQIQGMEYQPIPILHSD
                     LPPGTKILIYGNISFRLGVLLLKPENVKVLGGEVDALLEEYAQEKVLARLIGEPDLVV
                     SVIPNNSNENIPRVTDVLDPALGPSDEELLASLDENDELTANNDTSSERCFTTGSSSN
                     TIPTRQSSFEPEFVISPRPKEEPSNLSIHVMDGELDDFSLEEALLLEETVQKEQMETK
                     ELQPLTFNRNADRSIERFSHNPNTTNNFSLTCKNGNNNWSEKNVSEQMTNEDKSFGCP
                     SVRDQNRSIFSVHCNVPLAHDFTNKEKNLETDNKIKQTSSSDSHSLNNKILNREVVNY
                     VQKRNSQISNENDCNLQSCSLRSSENSINLSIAMDLYSPPFVYLSVLMASKPKEVTTV
                     KVKAFIVTLTGNLSSSGGIWSITAKVSDGTAYLDVDFVDEILTSLIGFSVPEMKQSKK
                     DPLQYQKFLEGLQKCQRDLIDLCCLMTISFNPSLSKAMVLALQDVNMEHLENLKKRLN
                     K"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /note="hexamer: AACAAA"
     polyA_site      3300
                     /gene="RMI1"
                     /gene_synonym="BLAP75; C9orf76; FAAP75"
                     /note="major polyA site"
ORIGIN      
        1 aactgggagc gcgccgcggc ggttcctgtc cttacagttg cgctgcccag ggaccgatgt
       61 tgcgcgagga aaatgcggga cgcccagggc catttctgag cagtggaggt ttcaagtaat
      121 ccactaacaa ccagttccaa attctgtcat caaatcctgt gctgctgttc ctcgtggtaa
      181 tagatgcata ttatttcttt tatttaaaag aaatgaatgt gactagtatt gcattaagag
      241 ctgaaacttg gcttttagct gcatggcatg ttaaagtacc tccgatgtgg ctggaagctt
      301 gtattaactg gattcaagaa gaaaataata atgttaactt gagtcaggcc caaatgaata
      361 aacaagtgtt tgagcagtgg ctccttactg atctgaggga tttggagcat cctcttttac
      421 ccgatggcat tttagaaatt ccaaaaggag aattaaatgg attttatgct ctgcagatta
      481 attccttggt tgatgtaagt cagcctgcat actcccagat acagaagttg agaggaaaga
      541 atacaacaaa tgatctagtt acagctgaag cacaagtaac cccaaaacct tgggaagcaa
      601 agccttcacg aatgttgatg ctgcagctaa ctgatggaat cgtacaaata cagggaatgg
      661 aatatcagcc tattccaatt cttcatagtg atcttcctcc aggtacaaaa attttgattt
      721 atggaaatat atctttccgt cttggtgttc tcttattgaa accagaaaac gtgaaagtgt
      781 taggaggtga agtagatgct cttttagaag aatatgccca agaaaaagta cttgcaagat
      841 taatagggga acctgatctt gtagtttcag tcataccaaa caattctaac gaaaacattc
      901 ccagagttac agatgttcta gatcctgcat taggtccttc tgatgaagaa ctcttggcaa
      961 gtcttgatga aaatgatgag cttacagcaa ataatgacac ttcctcagaa cgatgtttca
     1021 ccacaggtag ttcctcaaat accattccca caagacagtc aagttttgag ccagaatttg
     1081 ttatttctcc aagaccaaaa gaggaaccat caaacctatc tatacatgta atggatggag
     1141 aattagatga cttttcactg gaggaggcct tgcttttaga agaaactgtc cagaaagaac
     1201 agatggaaac taaggaattg caaccattga cttttaacag aaatgccgat cgaagtatag
     1261 agagattttc acataatcct aatactacga ataacttttc tttgacttgc aaaaatggaa
     1321 acaataattg gagtgaaaaa aatgtatctg aacaaatgac taatgaagac aaatcatttg
     1381 gttgtccatc tgttagagac caaaacagga gtattttttc agttcattgt aatgtaccct
     1441 tagcccatga ttttacaaat aaagaaaaga acttagagac agataataaa ataaaacaaa
     1501 ccagcagttc agatagccat tccttaaata ataaaatatt aaatagagag gtggtcaact
     1561 atgtacagaa aaggaattca caaatttcta atgaaaatga ttgtaattta cagagttgtt
     1621 ctttaagatc atcagagaat agcattaatc tttctattgc catggatttg tattctccac
     1681 cctttgtcta tttgtctgtt ctaatggcca gcaaaccaaa ggaagttaca acagtgaaag
     1741 tgaaagcatt tattgtaacc ttaactggaa atctctcaag ttctggtggt atttggagta
     1801 taactgcaaa ggtgtctgat ggtactgcat atctagatgt agactttgtg gatgaaatac
     1861 ttactagctt gatagggttc tcagtaccag aaatgaaaca gtcaaaaaag gatcctcttc
     1921 aataccaaaa gttcctggaa gggttgcaga aatgtcaaag agatctaata gatttgtgct
     1981 gtctaatgac tatttcattt aatccttcct tgtctaaagc aatggtactg gcattacaag
     2041 atgttaatat ggaacacctt gagaatctaa agaagcggtt aaataaataa ttaaactaaa
     2101 atagtattag gaacaattaa aaacaacaag gaaatattta gaatttgttc acaattttac
     2161 ttatgatact ttgtgtaaaa aggaaaaatg aaatttcata gcttatttca gtttaatttt
     2221 aaagtgttta atcatgtttg ttatatgtgg agcttttgaa aataagttaa tctttttttt
     2281 ttttttttta atgtcagggt attgctctgt tgcccaggct agagtgcagt ggcatgatca
     2341 taggttattg catcaacctc ttgagctcaa gcgatcctcc tgccttagcc tcttgagttg
     2401 ctgggactat aggcatgtac caccatgccc agctaattta taattactat tattgttttg
     2461 tagggacaga gttttgctat gttgcccaga ttggtctcaa actcctggcc tctcactcct
     2521 gccgtcatgg cctccaaagt ttactttttt taaaagtaac tgttagatgg aggaatatgg
     2581 tgacccacta ttgttgagaa atttgttttc cacttgtcac gtcacataag atgattgcta
     2641 aaatattgta ctggtgttcg gtggtgagtc atatttttga aagttaataa ttataaatag
     2701 gtaatttcct tctaatatgt tggtactgtc tatggccata ccaccctgaa catgcctgag
     2761 cttgtcataa tatgttgagt acccaaaaga tttgtttata ttgttaatct tagggaaaaa
     2821 aaattaaaat ccagtagatc agaacatcag gctttcagat acaaattgat ttactggttt
     2881 ttattttgct gattataata tttggtatat ttaaggtaat ctagttaact agatgctatt
     2941 tcatagatta tattgaatga tttaaaactt tattttcaag gatagtttat tttaaatggc
     3001 atattgaaaa catcattatt aagatccagt aggtaggaca tttattggat taaaatgaag
     3061 catttatcta tgtctttagg tgtcattgtt ccctttctga attagctgta catataagcc
     3121 ttcctttggt tttaagtact gatttttttt taaaaaaaag agggactgtt taccattctt
     3181 ccactgtgct gttataaagt tgtatttgaa aggtaatgtt gtttttatta atcttttgtc
     3241 ttaaaataat ttaaagtgct ttgaatttta aaacattaaa caaatcctta aataacaaaa
//
