LOCUS       NM_001282669            2905 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens DNA fragmentation factor subunit beta (DFFB),
            transcript variant 1, mRNA.
ACCESSION   NM_001282669 XM_005244730
VERSION     NM_001282669.2
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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 2905)
  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 AK303065.1, AL691523.6 and
            BC032827.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001282669.1.
            
            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 (1) 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 :: SRR14038194.2087504.1, AK303065.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-730               AK303065.1         17-746
            731-731             AL691523.6         40256-40256
            732-1153            AK303065.1         748-1169
            1154-2158           BC032827.1         1240-2244
            2159-2159           AL691523.6         55314-55314
            2160-2905           BC032827.1         2246-2991
FEATURES             Location/Qualifiers
     source          1..2905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..2905
                     /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"
     CDS             129..1217
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001269598.1"
                     /db_xref="CCDS:CCDS72693.1"
                     /db_xref="GeneID:1677"
                     /db_xref="HGNC:HGNC:2773"
                     /db_xref="MIM:601883"
                     /translation="MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGS
                     RLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGCEWQGLWRMCLLLDRHLLFVPL
                     VADVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRA
                     EDPPWFEGLESRFQSKSGYLRYSCESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMC
                     QRLRSMQYNGSYFDRGAKGGSRLCTPEGWFSCQGPFDMDSCLSRHSINPYSNRESRIL
                     FSTWNLDHIIEKKRTIIPTLVEAIKEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKT
                     THKLNCDPSRIYKPQTRLKRKQPVRKRQ"
     exon            243..391
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            392..630
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            631..710
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            711..881
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            882..982
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            983..2905
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2883..2888
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="hexamer: AATAAA"
     polyA_site      2905
                     /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 ggcagggctg tgagtggcaa ggactttgga ggatgtgtct tctgctggac cggcaccttt
      421 tgtttgtccc attggtggca gatgtgagcg acatcaggcg cttcctcagt gcatttcacg
      481 agccacaggt ggggctcatc caggccgccc agcagctgct gtgtgatgag caggccccac
      541 agaggcagag gctgctggct gacctcctgc acaacgtcag ccagaacatc gcggccgaga
      601 cccgggctga ggacccgccg tggtttgaag gcttggagtc ccgatttcag agcaagtctg
      661 gctatctgag atacagctgt gagagccgga tccggagtta cctgagggag gtgagctcct
      721 acccctccac ggtgggtgcg gaggctcagg aggaattcct gcgggtcctc ggctccatgt
      781 gccagaggct ccggtccatg cagtacaatg gcagctactt cgacagagga gccaagggcg
      841 gcagccgcct ctgcacaccg gaaggctggt tctcctgcca gggtcccttt gacatggaca
      901 gctgcttatc aagacactcc atcaacccct acagtaacag ggagagcagg atcctcttca
      961 gcacctggaa cctggatcac ataatagaaa agaaacgcac catcattcct acactggtgg
     1021 aagcaattaa ggaacaagat ggaagagaag tggactggga gtatttttat ggcctgcttt
     1081 ttacctcaga gaacctaaaa ctagtgcaca ttgtctgcca taagaaaacc acccacaagc
     1141 tcaactgtga cccaagcaga atctacaaac cccagacaag gttgaagcgg aagcagcctg
     1201 tgcggaaacg ccagtgacac gtacacacca cgtcctggtc tttgtttgag gcctgacgtg
     1261 ggcatcattt taacaggtgc cttttttgtt tttttgtttt tcgttttttt ggtcactcca
     1321 gtagctcctg gaaaaaacct taaaaaatgt ttcctccaaa tctgatttca ttacatttct
     1381 gaattgttgg ggtttttttt gttgttttgt tttgttttgt agatggagtt tcacttttgt
     1441 tgcccaggct ggagtgtagt ggcgcgatct cggctcagcc tcccgagtag ctgggattac
     1501 aggcatgtgc caccacgccc ggctaatgtt tgtattttta gtagagacgg ggtttcacca
     1561 tgttggtcag gctggtctca aactcctgac ctcaggtgat ccgcccacct cagcctccca
     1621 aagtgctggg atgacaggtg tgagccactg cgcccagcct gaatcatttc ttataccttc
     1681 tgacagccca acttccagag gacagctctg gggtactcgt tggatgtctg tgagtacctg
     1741 gtcatacggg tcagtaggga taagaattgt ctctgggctg aggaattctt ctgttctctg
     1801 gtttcaccag cgttgggttt gctcatgtaa tgtggtcacc atactcaaat ggtgtcatgg
     1861 ctgaagttgg ccaccttgct tgagggacaa gttgtttatg tatcagctct ctgctgggtc
     1921 tccctttcca tggcaaatgg gcagctccat cctcttgact cttctaaatg cccaaaagag
     1981 gtgtcatgct ttgggggtac gatgtttata ctccgtaaag aacatacaag gacattcact
     2041 gctgattttt ttttttgttt gtttgagaca gggtctcact ctgtcgctca ggctggagtg
     2101 cagtgatgca atcttggctc actgcaacct ccgcctctca ggttcaagtg gttctccttc
     2161 ctcagcctcc caagtagctg ggattacagg cacctaccac cagggccagc taatttttgt
     2221 atgtttagta gaaacggggt ttcaccatgt tggccaggct gttctcgaac tcctgacctc
     2281 aggtgatctg cccgcctcgg tctcccaaag tgctgggatt acaggcatga gccactgcac
     2341 ctgacctgct gaattgttta taatggcaag aaataggaaa ccccccaatg tctgttgaac
     2401 agctatcacg ttgaaccacg tgaaactgct gttttctagg ccaaaaatgg tgagcgatca
     2461 tttatttcat gattcaacct gatacattta catagtgcaa aactgtgtca cagtttcagg
     2521 cttttatgag gaaagcgttt ctgtgtagaa actggaagct gttcagggca tcggcagctg
     2581 aaccctgctc cgttggtcag cgttactatc atctcggatc atatggagct catgtcagcc
     2641 gtgtgggtgg cgggtgcaca gagacggtct ggaaggaaac acgcggatct gaacagcagt
     2701 aatcctgggg gatacggggg ttgggctaga ttacagaggg ctcattttct acgtcatgta
     2761 ttttatgata cttgaatttt ttgaaatggg catttatttt ataacatgtt aaaatgtact
     2821 ttttaaatta agtcattttg taatatttga atttttacat ttgttgtaca atcaggaaaa
     2881 gcaataaaga tttttcaaaa ataga
//
