LOCUS       NM_016216               2662 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens debranching RNA lariats 1 (DBR1), mRNA.
ACCESSION   NM_016216
VERSION     NM_016216.4
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 2662)
  AUTHORS   Buerer,L., Clark,N.E., Welch,A., Duan,C., Taggart,A.J.,
            Townley,B.A., Wang,J., Soemedi,R., Rong,S., Lin,C.L., Zeng,Y.,
            Katolik,A., Staley,J.P., Damha,M.J., Mosammaparast,N. and
            Fairbrother,W.G.
  TITLE     The debranching enzyme Dbr1 regulates lariat turnover and intron
            splicing
  JOURNAL   Nat Commun 15 (1), 4617 (2024)
   PUBMED   38816363
  REMARK    GeneRIF: The debranching enzyme Dbr1 regulates lariat turnover and
            intron splicing.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2662)
  AUTHORS   Theil,A.F., Pines,A., Kalayci,T., Heredia-Genestar,J.M., Raams,A.,
            Rietveld,M.H., Sridharan,S., Tanis,S.E., Mulder,K.W.,
            Buyukbabani,N., Karaman,B., Uyguner,Z.O., Kayserili,H.,
            Hoeijmakers,J.H., Lans,H., Demmers,J.A., Pothof,J., Altunoglu,U.,
            El Ghalbzouri,A. and Vermeulen,W.
  TITLE     Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for
            proper lariat debranching and ectodermal differentiation
  JOURNAL   EMBO Mol Med 15 (11), e17973 (2023)
   PUBMED   37800682
  REMARK    GeneRIF: Trichothiodystrophy-associated MPLKIP maintains DBR1
            levels for proper lariat debranching and ectodermal
            differentiation.
REFERENCE   3  (bases 1 to 2662)
  AUTHORS   Shamseldin,H.E., Sadagopan,M., Martini,J., Al-Ali,R., Radefeldt,M.,
            Ataei,M., Lemke,S., Rahbeeni,Z., Al Mutairi,F., Ababneh,F.,
            AlRukban,H.A., Abdulwahab,F., Alhajj,S.M., Bauer,P.,
            Bertoli-Avella,A. and Alkuraya,F.S.
  TITLE     A founder DBR1 variant causes a lethal form of congenital
            ichthyosis
  JOURNAL   Hum Genet 142 (10), 1491-1498 (2023)
   PUBMED   37656279
  REMARK    GeneRIF: A founder DBR1 variant causes a lethal form of congenital
            ichthyosis.
REFERENCE   4  (bases 1 to 2662)
  AUTHORS   Clark,N.E., Katolik,A., Welch,A., Schorl,C., Holloway,S.P.,
            Schuermann,J.P., Hart,P.J., Taylor,A.B., Damha,M.J. and
            Fairbrother,W.G.
  TITLE     Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with
            Hydrolyzed Phosphorothioate RNA Product
  JOURNAL   Biochemistry 61 (24), 2933-2939 (2022)
   PUBMED   36484984
  REMARK    GeneRIF: Crystal Structure of the RNA Lariat Debranching Enzyme
            Dbr1 with Hydrolyzed Phosphorothioate RNA Product.
REFERENCE   5  (bases 1 to 2662)
  AUTHORS   Galvis,A.E., Fisher,H.E., Nitta,T., Fan,H. and Camerini,D.
  TITLE     Impairment of HIV-1 cDNA synthesis by DBR1 knockdown
  JOURNAL   J Virol 88 (12), 7054-7069 (2014)
   PUBMED   24672043
  REMARK    GeneRIF: Inhibition of DBR1 caused a significant reduction in the
            formation of intermediate and full-length HIV-1 cDNA.
REFERENCE   6  (bases 1 to 2662)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   7  (bases 1 to 2662)
  AUTHORS   Tomarev,S.I., Wistow,G., Raymond,V., Dubois,S. and Malyukova,I.
  TITLE     Gene expression profile of the human trabecular meshwork: NEIBank
            sequence tag analysis
  JOURNAL   Invest Ophthalmol Vis Sci 44 (6), 2588-2596 (2003)
   PUBMED   12766061
REFERENCE   8  (bases 1 to 2662)
  AUTHORS   Martin,A., Schneider,S. and Schwer,B.
  TITLE     Prp43 is an essential RNA-dependent ATPase required for release of
            lariat-intron from the spliceosome
  JOURNAL   J Biol Chem 277 (20), 17743-17750 (2002)
   PUBMED   11886864
REFERENCE   9  (bases 1 to 2662)
  AUTHORS   Kim,J.W., Kim,H.C., Kim,G.M., Yang,J.M., Boeke,J.D. and Nam,K.
  TITLE     Human RNA lariat debranching enzyme cDNA complements the phenotypes
            of Saccharomyces cerevisiae dbr1 and Schizosaccharomyces pombe dbr1
            mutants
  JOURNAL   Nucleic Acids Res 28 (18), 3666-3673 (2000)
   PUBMED   10982890
REFERENCE   10 (bases 1 to 2662)
  AUTHORS   Chapman,K.B. and Boeke,J.D.
  TITLE     Isolation and characterization of the gene encoding yeast
            debranching enzyme
  JOURNAL   Cell 65 (3), 483-492 (1991)
   PUBMED   1850323
  REMARK    GeneRIF: Dbr1 protein cleaves the 2'-5' phosphodiester bond of
            intron lariats, necessary for subsequent intron degradation that
            follows pre-mRNA splicing.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL702928.1, BC009472.1,
            AC023049.14, CD677175.1 and BF987317.1.
            
            On May 17, 2019 this sequence version replaced NM_016216.3.
            
            Summary: The protein encoded by this gene is an RNA lariat
            debranching enzyme that hydrolyzes 2'-5' prime branched
            phosphodiester bonds. The encoded protein specifically targets the
            bonds at the branch point of excised lariat intron RNA, converting
            them to linear molecules that are then degraded. This protein may
            also be involved in retroviral replication. [provided by RefSeq,
            Nov 2011].
            
            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 :: SRR1803612.257390.1,
                                           SRR7346977.766999.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2150385 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260803.9/ ENSP00000260803.4
            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
            1-44                AL702928.1         31-74
            45-1226             BC009472.1         1-1182
            1227-2283           AC023049.14        105523-106579       c
            2284-2629           CD677175.1         213-558
            2630-2662           BF987317.1         293-325
FEATURES             Location/Qualifiers
     source          1..2662
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..2662
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /note="debranching RNA lariats 1"
                     /db_xref="GeneID:51163"
                     /db_xref="HGNC:HGNC:15594"
                     /db_xref="MIM:607024"
     exon            1..323
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1761
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /note="RNA lariat debranching enzyme; debranching enzyme
                     homolog 1"
                     /codon_start=1
                     /product="lariat debranching enzyme"
                     /protein_id="NP_057300.2"
                     /db_xref="CCDS:CCDS33863.1"
                     /db_xref="GeneID:51163"
                     /db_xref="HGNC:HGNC:15594"
                     /db_xref="MIM:607024"
                     /translation="MRVAVAGCCHGELDKIYETLALAERRGPGPVDLLLCCGDFQAVR
                     NEADLRCMAVPPKYRHMQTFYRYYSGEKKAPVLTLFIGGNHEASNHLQELPYGGWVAP
                     NIYYLGLAGVVKYRGVRIGGISGIFKSHDYRKGHFECPPYNSSTIRSIYHVRNIEVYK
                     LKQLKQPIDIFLSHDWPRSIYHYGNKKQLLKTKSFFRQEVENNTLGSPAASELLEHLK
                     PTYWFSAHLHVKFAALMQHQAKDKGQTARATKFLALDKCLPHRDFLQILEIEHDPSAP
                     DYLEYDIEWLTILRATDDLINVTGRLWNMPENNGLHARWDYSATEEGMKEVLEKLNHD
                     LKVPCNFSVTAACYDPSKPQTQMQLIHRINPQTTEFCAQLGIIDINVRLQKSKEEHHV
                     CGEYEEQDDVESNDSGEDQSEYNTDTSALSSINPDEIMLDEEEDEDSIVSAHSGMNTP
                     SVEPSDQASEFSASFSDVRILPGSMIVSSDDTVDSTIDREGKPGGTVESGNGEDLTKV
                     PLKRLSDEHEPEQRKKIKRRNQAIYAAVDDDDDDAA"
     exon            324..448
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     exon            449..529
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     exon            530..615
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     exon            616..840
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     exon            841..921
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1067
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..2662
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2616..2621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /note="hexamer: AATAAA"
     polyA_site      2638
                     /gene="DBR1"
                     /gene_synonym="XGIP"
                     /note="major polyA site"
ORIGIN      
        1 gcaggagtct acacccaggc ggtggctata cttattaaag ttggcgggag ctgagcgatc
       61 agtcggtcct gggctggctg tggtgtaggg cgttgcaggc agcgctcacc tcctcaggcc
      121 ggcagaatgc gggtggctgt ggctggctgc tgccacggcg agctggataa gatctatgag
      181 acgctggcgc tggcagagcg gcgcggcccg gggcctgtcg acctcttgct gtgctgcggc
      241 gacttccagg cggtgcgcaa cgaggcggat ctacgctgca tggccgtgcc gcccaagtat
      301 cgtcacatgc aaaccttcta caggtattac tctggagaga aaaaggctcc agttctcacg
      361 ctcttcattg ggggaaacca tgaagcctca aatcatttgc aagagttacc ctatggtggc
      421 tgggtggcac caaacattta ttatttaggt ttggctggtg tggtaaaata ccgaggtgta
      481 aggatcggtg gaatctctgg tatctttaaa tctcatgact atcgaaaagg tcattttgag
      541 tgcccccctt ataattcatc tacaatcagg agtatatatc atgtgagaaa tattgaagtc
      601 tataaattaa aacagctgaa gcagcctata gatatattct tgtctcatga ttggccaaga
      661 agtatatatc attatggaaa taagaagcaa cttcttaaga ctaaatcttt tttccgacaa
      721 gaagtggaaa ataacacatt aggaagtcca gctgcctcag agcttttaga gcatctcaaa
      781 cctacttatt ggttttctgc ccaccttcat gtgaagtttg ccgccttgat gcagcatcag
      841 gcaaaggata aaggacagac agccagagca accaaatttt tagccttgga caaatgctta
      901 ccacatagag attttcttca gatattagag atagaacatg accccagtgc tcctgattac
      961 ttggaatatg atattgaatg gctcactatt ctcagggcta cggatgatct tattaatgtg
     1021 actgggcgcc tgtggaatat gccagaaaat aatggcctgc atgcaaggtg ggattatagt
     1081 gcaacagaag aaggtatgaa agaagtattg gaaaaattga atcatgatct caaggttcca
     1141 tgtaacttta gtgtaacagc tgcttgttat gatcctagca agccacagac acaaatgcag
     1201 ctgattcata ggatcaatcc tcagacaact gaattttgtg cccaacttgg catcatagac
     1261 atcaatgtta ggcttcagaa gtccaaggaa gaacatcatg tgtgtggtga atatgaagaa
     1321 caggatgatg tggagagtaa tgactctgga gaagaccaga gtgaatataa tacagacaca
     1381 tctgctctgt cttctattaa tccagatgaa ataatgttag atgaagaaga agatgaagat
     1441 agtattgtaa gtgcacatag tggcatgaat acaccatcgg tagaaccttc tgatcaagct
     1501 tctgagtttt ctgcaagttt ctctgatgtc aggatcttgc caggctctat gattgtatct
     1561 tctgatgata cggtggattc cacaattgat agagagggga aacctggtgg gactgtggag
     1621 tcagggaatg gagaggactt aaccaaggtg ccattgaaga ggctgagtga tgaacatgaa
     1681 cctgaacaaa gaaagaaaat taagaggagg aatcaagcca tttacgctgc agtggatgat
     1741 gatgatgacg atgcagctta agatgattta cttgttttgt ttttgtgttt gttttgtttt
     1801 tttgagatgg agtttcactc ttgtcaccta gactggagtg caatggcgtg atctcggctc
     1861 accgcaacct ccgcctccca ggttcaagca attctcctgc ctcagcctcc caagtaggtg
     1921 ggactacagg tgcccgccac cacacccggc taatttttgc atttttagta atgacagggt
     1981 ttcaccgtgt tggccaggct ggtctccaac tcctgacctc aggcgatcca cctgtcttgg
     2041 ccttctaaag tgctgggatt acaggcgtga gccactgtgc ctggccgaca atttacttgt
     2101 cttagtatta tatgtagata tgtgattttt tgagactgta tttttagagc tgaatttttg
     2161 actaaagact taactttata ataatgaaga tacattagag aattttagtt agatattgac
     2221 tttatcttta ggcttttgta tgtttcagat gcaaacatat taaagtttca tatatttact
     2281 tgactgggta tctttttttt tgaagacata cattattcac ttccattttt acaataaaca
     2341 cttacttaac atctactctg tgccaagcac tctgctataa tatgggacca taaagatgag
     2401 taagacaagg atttttgcct ccaaggactt gttatcactg taaacatttt gatgtataca
     2461 atatggctat attatatttt gttttataaa atcaagtcat tgtatatatt atgatgtatg
     2521 ctttcttttc atttattata aatatttttc ctgatcagct tttaatatct gtcaaataaa
     2581 aattgaaatt gaagatggta tataagattt caggaaataa actactctga atactaaaca
     2641 ttggtaaacg tacaatctta at
//
