LOCUS       NM_001320132            3002 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens DNA fragmentation factor subunit beta (DFFB),
            transcript variant 4, mRNA.
ACCESSION   NM_001320132
VERSION     NM_001320132.2
KEYWORDS    RefSeq.
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 3002)
  AUTHORS   Bi,H., Wang,G., Li,Z., Zhou,L. and Zhang,M.
  TITLE     MEG3 Regulates CSE-Induced Apoptosis by Regulating miR-421/DFFB
            Signal Axis
  JOURNAL   Int J Chron Obstruct Pulmon Dis 18, 859-870 (2023)
   PUBMED   37215747
  REMARK    GeneRIF: MEG3 Regulates CSE-Induced Apoptosis by Regulating
            miR-421/DFFB Signal Axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3002)
  AUTHORS   Haimovici,A., Hofer,C., Badr,M.T., Bavafaye Haghighi,E., Amer,T.,
            Boerries,M., Bronsert,P., Glavynskyi,I., Fanfone,D., Ichim,G.,
            Thilmany,N., Weber,A., Brummer,T., Spohr,C., Ollinger,R.,
            Janssen,K.P., Rad,R. and Hacker,G.
  TITLE     Spontaneous activity of the mitochondrial apoptosis pathway drives
            chromosomal defects, the appearance of micronuclei and cancer
            metastasis through the Caspase-Activated DNAse
  JOURNAL   Cell Death Dis 13 (4), 315 (2022)
   PUBMED   35393399
  REMARK    GeneRIF: Spontaneous activity of the mitochondrial apoptosis
            pathway drives chromosomal defects, the appearance of micronuclei
            and cancer metastasis through the Caspase-Activated DNAse.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3002)
  AUTHORS   Kulbay,M., Johnson,B., Fiola,S., Diaz,R.J. and Bernier,J.
  TITLE     DFF40 deficiency in cancerous T cells is implicated in chemotherapy
            drug sensitivity and resistance through the regulation of the
            apoptotic pathway
  JOURNAL   Biochem Pharmacol 194, 114801 (2021)
   PUBMED   34678222
  REMARK    GeneRIF: DFF40 deficiency in cancerous T cells is implicated in
            chemotherapy drug sensitivity and resistance through the regulation
            of the apoptotic pathway.
REFERENCE   4  (bases 1 to 3002)
  AUTHORS   Han,D.S.C. and Lo,Y.M.D.
  TITLE     The Nexus of cfDNA and Nuclease Biology
  JOURNAL   Trends Genet 37 (8), 758-770 (2021)
   PUBMED   34006390
  REMARK    GeneRIF: The Nexus of cfDNA and Nuclease Biology.
            Review article
REFERENCE   5  (bases 1 to 3002)
  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 3002)
  AUTHORS   Mukae,N., Enari,M., Sakahira,H., Fukuda,Y., Inazawa,J., Toh,H. and
            Nagata,S.
  TITLE     Molecular cloning and characterization of human caspase-activated
            DNase
  JOURNAL   Proc Natl Acad Sci U S A 95 (16), 9123-9128 (1998)
   PUBMED   9689044
REFERENCE   7  (bases 1 to 3002)
  AUTHORS   Liu,X., Li,P., Widlak,P., Zou,H., Luo,X., Garrard,W.T. and Wang,X.
  TITLE     The 40-kDa subunit of DNA fragmentation factor induces DNA
            fragmentation and chromatin condensation during apoptosis
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8461-8466 (1998)
   PUBMED   9671700
REFERENCE   8  (bases 1 to 3002)
  AUTHORS   Halenbeck,R., MacDonald,H., Roulston,A., Chen,T.T., Conroy,L. and
            Williams,L.T.
  TITLE     CPAN, a human nuclease regulated by the caspase-sensitive inhibitor
            DFF45
  JOURNAL   Curr Biol 8 (9), 537-540 (1998)
   PUBMED   9560346
REFERENCE   9  (bases 1 to 3002)
  AUTHORS   Enari,M., Sakahira,H., Yokoyama,H., Okawa,K., Iwamatsu,A. and
            Nagata,S.
  TITLE     A caspase-activated DNase that degrades DNA during apoptosis, and
            its inhibitor ICAD
  JOURNAL   Nature 391 (6662), 43-50 (1998)
   PUBMED   9422506
  REMARK    Erratum:[Nature 1998 May 28;393(6683):396]
REFERENCE   10 (bases 1 to 3002)
  AUTHORS   Liu,X., Zou,H., Slaughter,C. and Wang,X.
  TITLE     DFF, a heterodimeric protein that functions downstream of caspase-3
            to trigger DNA fragmentation during apoptosis
  JOURNAL   Cell 89 (2), 175-184 (1997)
   PUBMED   9108473
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB028912.1, AF409060.1,
            BC032827.1 and AK027141.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001320132.1.
            
            Summary: Apoptosis is a cell death process that removes toxic
            and/or useless cells during mammalian development. The apoptotic
            process is accompanied by shrinkage and fragmentation of the cells
            and nuclei and degradation of the chromosomal DNA into nucleosomal
            units. DNA fragmentation factor (DFF) is a heterodimeric protein of
            40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for
            caspase-3 and triggers DNA fragmentation during apoptosis. DFF
            becomes activated when DFFA is cleaved by caspase-3. The cleaved
            fragments of DFFA dissociate from DFFB, the active component of
            DFF. DFFB has been found to trigger both DNA fragmentation and
            chromatin condensation during apoptosis. Alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene but the biological validity of some of these variants has
            not been determined. [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (4) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses an alternate start codon,
            compared to variant 1. It encodes isoform 4, which has a shorter
            and distinct N-terminus, compared to 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 :: AB028912.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145245 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-808               AB028912.1         4-811
            809-828             AF409060.1         523-542
            829-1250            AB028912.1         832-1253
            1251-2255           BC032827.1         1240-2244
            2256-2256           AK027141.1         2040-2040
            2257-3002           BC032827.1         2246-2991
FEATURES             Location/Qualifiers
     source          1..3002
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..3002
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="DNA fragmentation factor subunit beta"
                     /db_xref="GeneID:1677"
                     /db_xref="HGNC:HGNC:2773"
                     /db_xref="MIM:601883"
     exon            1..242
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            243..369
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            370..727
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     CDS             445..1314
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="isoform 4 is encoded by transcript variant 4;
                     caspase-activated nuclease; caspase-activated
                     deoxyribonuclease; caspase-activated DNase; DNA
                     fragmentation factor 40 kDa subunit; DNA fragmentation
                     factor, 40kDa, beta polypeptide (caspase-activated DNase)"
                     /codon_start=1
                     /product="DNA fragmentation factor subunit beta isoform 4"
                     /protein_id="NP_001307061.1"
                     /db_xref="GeneID:1677"
                     /db_xref="HGNC:HGNC:2773"
                     /db_xref="MIM:601883"
                     /translation="MGEDVVRGSSCDRGRMCLLLDRHLLFVPLVADVSDIRRFLSAFH
                     EPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQS
                     KSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDR
                     GAKGGSRLCTPEGWFSCQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIIEKKRT
                     IIPTLVEAIKEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKTTHKLNCDPSRIYKPQ
                     TRLKRKQPVRKRQ"
     exon            728..807
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            808..978
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1079
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..3002
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2980..2985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="hexamer: AATAAA"
     polyA_site      3002
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="major polyA site"
ORIGIN      
        1 acccggcctg tgccagcttg cagagctcac caggtgcaga cccctgcggc cagggcgagg
       61 acggatctga gcagctgggc agcaggtgcc accgcctgtg ggacccagag ggcttgagga
      121 catctgcaat gctccagaag cccaagagcg tgaagctgcg ggccctgcgc agcccgagga
      181 agttcggcgt ggctggccgg agctgccagg aggtgctgcg caagggctgt ctccgcttcc
      241 agctccctga gcgcggttcc cggctgtgcc tgtacgagga tggcacggag ctgacggaag
      301 attacttccc cagtgttccc gacaacgccg agctggtgct gctcaccttg ggccaggcct
      361 ggcagggctc tgttggtgtc agggcaagga caaagacccg ggacacctca agtctgagtc
      421 ctggtgattg ccaggccctg gggaatgggg gaagatgtgg tcagaggctc ttcttgtgac
      481 cggggcagga tgtgtcttct gctggaccgg caccttttgt ttgtcccatt ggtggcagat
      541 gtgagcgaca tcaggcgctt cctcagtgca tttcacgagc cacaggtggg gctcatccag
      601 gccgcccagc agctgctgtg tgatgagcag gccccacaga ggcagaggct gctggctgac
      661 ctcctgcaca acgtcagcca gaacatcgcg gccgagaccc gggctgagga cccgccgtgg
      721 tttgaaggct tggagtcccg atttcagagc aagtctggct atctgagata cagctgtgag
      781 agccggatcc ggagttacct gagggaggtg agctcctacc cctccacggt gggtgcggag
      841 gctcaggagg aattcctgcg ggtcctcggc tccatgtgcc agaggctccg gtccatgcag
      901 tacaatggca gctacttcga cagaggagcc aagggcggca gccgcctctg cacaccggaa
      961 ggctggttct cctgccaggg tccctttgac atggacagct gcttatcaag acactccatc
     1021 aacccctaca gtaacaggga gagcaggatc ctcttcagca cctggaacct ggatcacata
     1081 atagaaaaga aacgcaccat cattcctaca ctggtggaag caattaagga acaagatgga
     1141 agagaagtgg actgggagta tttttatggc ctgcttttta cctcagagaa cctaaaacta
     1201 gtgcacattg tctgccataa gaaaaccacc cacaagctca actgtgaccc aagcagaatc
     1261 tacaaacccc agacaaggtt gaagcggaag cagcctgtgc ggaaacgcca gtgacacgta
     1321 cacaccacgt cctggtcttt gtttgaggcc tgacgtgggc atcattttaa caggtgcctt
     1381 ttttgttttt ttgtttttcg tttttttggt cactccagta gctcctggaa aaaaccttaa
     1441 aaaatgtttc ctccaaatct gatttcatta catttctgaa ttgttggggt tttttttgtt
     1501 gttttgtttt gttttgtaga tggagtttca cttttgttgc ccaggctgga gtgtagtggc
     1561 gcgatctcgg ctcagcctcc cgagtagctg ggattacagg catgtgccac cacgcccggc
     1621 taatgtttgt atttttagta gagacggggt ttcaccatgt tggtcaggct ggtctcaaac
     1681 tcctgacctc aggtgatccg cccacctcag cctcccaaag tgctgggatg acaggtgtga
     1741 gccactgcgc ccagcctgaa tcatttctta taccttctga cagcccaact tccagaggac
     1801 agctctgggg tactcgttgg atgtctgtga gtacctggtc atacgggtca gtagggataa
     1861 gaattgtctc tgggctgagg aattcttctg ttctctggtt tcaccagcgt tgggtttgct
     1921 catgtaatgt ggtcaccata ctcaaatggt gtcatggctg aagttggcca ccttgcttga
     1981 gggacaagtt gtttatgtat cagctctctg ctgggtctcc ctttccatgg caaatgggca
     2041 gctccatcct cttgactctt ctaaatgccc aaaagaggtg tcatgctttg ggggtacgat
     2101 gtttatactc cgtaaagaac atacaaggac attcactgct gatttttttt tttgtttgtt
     2161 tgagacaggg tctcactctg tcgctcaggc tggagtgcag tgatgcaatc ttggctcact
     2221 gcaacctccg cctctcaggt tcaagtggtt ctccttcctc agcctcccaa gtagctggga
     2281 ttacaggcac ctaccaccag ggccagctaa tttttgtatg tttagtagaa acggggtttc
     2341 accatgttgg ccaggctgtt ctcgaactcc tgacctcagg tgatctgccc gcctcggtct
     2401 cccaaagtgc tgggattaca ggcatgagcc actgcacctg acctgctgaa ttgtttataa
     2461 tggcaagaaa taggaaaccc cccaatgtct gttgaacagc tatcacgttg aaccacgtga
     2521 aactgctgtt ttctaggcca aaaatggtga gcgatcattt atttcatgat tcaacctgat
     2581 acatttacat agtgcaaaac tgtgtcacag tttcaggctt ttatgaggaa agcgtttctg
     2641 tgtagaaact ggaagctgtt cagggcatcg gcagctgaac cctgctccgt tggtcagcgt
     2701 tactatcatc tcggatcata tggagctcat gtcagccgtg tgggtggcgg gtgcacagag
     2761 acggtctgga aggaaacacg cggatctgaa cagcagtaat cctgggggat acgggggttg
     2821 ggctagatta cagagggctc attttctacg tcatgtattt tatgatactt gaattttttg
     2881 aaatgggcat ttattttata acatgttaaa atgtactttt taaattaagt cattttgtaa
     2941 tatttgaatt tttacatttg ttgtacaatc aggaaaagca ataaagattt ttcaaaaata
     3001 ga
//
