LOCUS       NM_004402               2833 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens DNA fragmentation factor subunit beta (DFFB),
            transcript variant 2, mRNA.
ACCESSION   NM_004402
VERSION     NM_004402.4
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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 2833)
  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 BC048797.1, AL691523.6 and
            BC032827.1.
            
            On Jun 2, 2019 this sequence version replaced NM_004402.3.
            
            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 (2) contains two consecutive
            alternate splice junctions compared to variant 1. The resulting
            isoform (2) has the same N- and C-termini but lacks an internal
            segment 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 :: BC048797.1, SRR1803613.34653.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378209.8/ ENSP00000367454.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-658               BC048797.1         196-853
            659-659             AL691523.6         40256-40256
            660-1081            BC048797.1         855-1276
            1082-2086           BC032827.1         1240-2244
            2087-2087           AL691523.6         55314-55314
            2088-2833           BC032827.1         2246-2991
FEATURES             Location/Qualifiers
     source          1..2833
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.32"
     gene            1..2833
                     /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..1145
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_004393.1"
                     /db_xref="CCDS:CCDS52.1"
                     /db_xref="GeneID:1677"
                     /db_xref="HGNC:HGNC:2773"
                     /db_xref="MIM:601883"
                     /translation="MLQKPKSVKLRALRSPRKFGVAGRSCQEVLRKGCLRFQLPERGS
                     RLCLYEDGTELTEDYFPSVPDNAELVLLTLGQAWQGYVSDIRRFLSAFHEPQVGLIQA
                     AQQLLCDEQAPQRQRLLADLLHNVSQNIAAETRAEDPPWFEGLESRFQSKSGYLRYSC
                     ESRIRSYLREVSSYPSTVGAEAQEEFLRVLGSMCQRLRSMQYNGSYFDRGAKGGSRLC
                     TPEGWFSCQGPFDMDSCLSRHSINPYSNRESRILFSTWNLDHIIEKKRTIIPTLVEAI
                     KEQDGREVDWEYFYGLLFTSENLKLVHIVCHKKTTHKLNCDPSRIYKPQTRLKRKQPV
                     RKRQ"
     exon            243..369
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            370..558
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            559..638
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            639..809
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            810..910
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     exon            911..2833
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2811..2816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DFFB"
                     /gene_synonym="CAD; CPAN; DFF-40; DFF2; DFF40"
                     /note="hexamer: AATAAA"
     polyA_site      2833
                     /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 ggcagggcta tgtgagcgac atcaggcgct tcctcagtgc atttcacgag ccacaggtgg
      421 ggctcatcca ggccgcccag cagctgctgt gtgatgagca ggccccacag aggcagaggc
      481 tgctggctga cctcctgcac aacgtcagcc agaacatcgc ggccgagacc cgggctgagg
      541 acccgccgtg gtttgaaggc ttggagtccc gatttcagag caagtctggc tatctgagat
      601 acagctgtga gagccggatc cggagttacc tgagggaggt gagctcctac ccctccacgg
      661 tgggtgcgga ggctcaggag gaattcctgc gggtcctcgg ctccatgtgc cagaggctcc
      721 ggtccatgca gtacaatggc agctacttcg acagaggagc caagggcggc agccgcctct
      781 gcacaccgga aggctggttc tcctgccagg gtccctttga catggacagc tgcttatcaa
      841 gacactccat caacccctac agtaacaggg agagcaggat cctcttcagc acctggaacc
      901 tggatcacat aatagaaaag aaacgcacca tcattcctac actggtggaa gcaattaagg
      961 aacaagatgg aagagaagtg gactgggagt atttttatgg cctgcttttt acctcagaga
     1021 acctaaaact agtgcacatt gtctgccata agaaaaccac ccacaagctc aactgtgacc
     1081 caagcagaat ctacaaaccc cagacaaggt tgaagcggaa gcagcctgtg cggaaacgcc
     1141 agtgacacgt acacaccacg tcctggtctt tgtttgaggc ctgacgtggg catcatttta
     1201 acaggtgcct tttttgtttt tttgtttttc gtttttttgg tcactccagt agctcctgga
     1261 aaaaacctta aaaaatgttt cctccaaatc tgatttcatt acatttctga attgttgggg
     1321 ttttttttgt tgttttgttt tgttttgtag atggagtttc acttttgttg cccaggctgg
     1381 agtgtagtgg cgcgatctcg gctcagcctc ccgagtagct gggattacag gcatgtgcca
     1441 ccacgcccgg ctaatgtttg tatttttagt agagacgggg tttcaccatg ttggtcaggc
     1501 tggtctcaaa ctcctgacct caggtgatcc gcccacctca gcctcccaaa gtgctgggat
     1561 gacaggtgtg agccactgcg cccagcctga atcatttctt ataccttctg acagcccaac
     1621 ttccagagga cagctctggg gtactcgttg gatgtctgtg agtacctggt catacgggtc
     1681 agtagggata agaattgtct ctgggctgag gaattcttct gttctctggt ttcaccagcg
     1741 ttgggtttgc tcatgtaatg tggtcaccat actcaaatgg tgtcatggct gaagttggcc
     1801 accttgcttg agggacaagt tgtttatgta tcagctctct gctgggtctc cctttccatg
     1861 gcaaatgggc agctccatcc tcttgactct tctaaatgcc caaaagaggt gtcatgcttt
     1921 gggggtacga tgtttatact ccgtaaagaa catacaagga cattcactgc tgattttttt
     1981 ttttgtttgt ttgagacagg gtctcactct gtcgctcagg ctggagtgca gtgatgcaat
     2041 cttggctcac tgcaacctcc gcctctcagg ttcaagtggt tctccttcct cagcctccca
     2101 agtagctggg attacaggca cctaccacca gggccagcta atttttgtat gtttagtaga
     2161 aacggggttt caccatgttg gccaggctgt tctcgaactc ctgacctcag gtgatctgcc
     2221 cgcctcggtc tcccaaagtg ctgggattac aggcatgagc cactgcacct gacctgctga
     2281 attgtttata atggcaagaa ataggaaacc ccccaatgtc tgttgaacag ctatcacgtt
     2341 gaaccacgtg aaactgctgt tttctaggcc aaaaatggtg agcgatcatt tatttcatga
     2401 ttcaacctga tacatttaca tagtgcaaaa ctgtgtcaca gtttcaggct tttatgagga
     2461 aagcgtttct gtgtagaaac tggaagctgt tcagggcatc ggcagctgaa ccctgctccg
     2521 ttggtcagcg ttactatcat ctcggatcat atggagctca tgtcagccgt gtgggtggcg
     2581 ggtgcacaga gacggtctgg aaggaaacac gcggatctga acagcagtaa tcctggggga
     2641 tacgggggtt gggctagatt acagagggct cattttctac gtcatgtatt ttatgatact
     2701 tgaatttttt gaaatgggca tttattttat aacatgttaa aatgtacttt ttaaattaag
     2761 tcattttgta atatttgaat ttttacattt gttgtacaat caggaaaagc aataaagatt
     2821 tttcaaaaat aga
//
