LOCUS       NM_001371333            1471 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens diablo IAP-binding mitochondrial protein (DIABLO),
            transcript variant 8, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001371333
VERSION     NM_001371333.1
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 1471)
  AUTHORS   Zhang,D. and Yang,N.
  TITLE     In vivo and in vitro studies on the role of regulating Smac
            expression in the occurrence and development of colon cancer
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (6), 206-210 (2024)
   PUBMED   38836659
  REMARK    GeneRIF: In vivo and in vitro studies on the role of regulating
            Smac expression in the occurrence and development of colon cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1471)
  AUTHORS   Li,Y., Song,Y. and Liang,Y.
  TITLE     AREL1 resists the apoptosis induced by TGF-beta by inhibiting SMAC
            in vascular endothelial cells
  JOURNAL   J Biochem Mol Toxicol 37 (10), e23439 (2023)
   PUBMED   37522329
  REMARK    GeneRIF: AREL1 resists the apoptosis induced by TGF-beta by
            inhibiting SMAC in vascular endothelial cells.
REFERENCE   3  (bases 1 to 1471)
  AUTHORS   Ehrmann,J.F., Grabarczyk,D.B., Heinke,M., Deszcz,L., Kurzbauer,R.,
            Hudecz,O., Shulkina,A., Gogova,R., Meinhart,A., Versteeg,G.A. and
            Clausen,T.
  TITLE     Structural basis for regulation of apoptosis and autophagy by the
            BIRC6/SMAC complex
  JOURNAL   Science 379 (6637), 1117-1123 (2023)
   PUBMED   36758105
  REMARK    GeneRIF: Structural basis for regulation of apoptosis and autophagy
            by the BIRC6/SMAC complex.
REFERENCE   4  (bases 1 to 1471)
  AUTHORS   Fu,J., Jin,Y. and Arend,L.J.
  TITLE     Smac3, a novel Smac/DIABLO splicing variant, attenuates the
            stability and apoptosis-inhibiting activity of X-linked inhibitor
            of apoptosis protein
  JOURNAL   J Biol Chem 278 (52), 52660-52672 (2003)
   PUBMED   14523016
  REMARK    GeneRIF: Smac3 is a novel Smac/DIABLO splicing variant and
            attenuates the stability and apoptosis-inhibiting activity of XIAP
REFERENCE   5  (bases 1 to 1471)
  AUTHORS   Roberts,D.L., Merrison,W., MacFarlane,M. and Cohen,G.M.
  TITLE     The inhibitor of apoptosis protein-binding domain of Smac is not
            essential for its proapoptotic activity
  JOURNAL   J Cell Biol 153 (1), 221-228 (2001)
   PUBMED   11285287
REFERENCE   6  (bases 1 to 1471)
  AUTHORS   Liu,Z., Sun,C., Olejniczak,E.T., Meadows,R.P., Betz,S.F., Oost,T.,
            Herrmann,J., Wu,J.C. and Fesik,S.W.
  TITLE     Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain
  JOURNAL   Nature 408 (6815), 1004-1008 (2000)
   PUBMED   11140637
REFERENCE   7  (bases 1 to 1471)
  AUTHORS   Srinivasula,S.M., Datta,P., Fan,X.J., Fernandes-Alnemri,T.,
            Huang,Z. and Alnemri,E.S.
  TITLE     Molecular determinants of the caspase-promoting activity of
            Smac/DIABLO and its role in the death receptor pathway
  JOURNAL   J Biol Chem 275 (46), 36152-36157 (2000)
   PUBMED   10950947
REFERENCE   8  (bases 1 to 1471)
  AUTHORS   Chai,J., Du,C., Wu,J.W., Kyin,S., Wang,X. and Shi,Y.
  TITLE     Structural and biochemical basis of apoptotic activation by
            Smac/DIABLO
  JOURNAL   Nature 406 (6798), 855-862 (2000)
   PUBMED   10972280
REFERENCE   9  (bases 1 to 1471)
  AUTHORS   Verhagen,A.M., Ekert,P.G., Pakusch,M., Silke,J., Connolly,L.M.,
            Reid,G.E., Moritz,R.L., Simpson,R.J. and Vaux,D.L.
  TITLE     Identification of DIABLO, a mammalian protein that promotes
            apoptosis by binding to and antagonizing IAP proteins
  JOURNAL   Cell 102 (1), 43-53 (2000)
   PUBMED   10929712
REFERENCE   10 (bases 1 to 1471)
  AUTHORS   Du,C., Fang,M., Li,Y., Li,L. and Wang,X.
  TITLE     Smac, a mitochondrial protein that promotes cytochrome c-dependent
            caspase activation by eliminating IAP inhibition
  JOURNAL   Cell 102 (1), 33-42 (2000)
   PUBMED   10929711
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048338.29 and AF262240.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an inhibitor of apoptosis protein
            (IAP)-binding protein. The encoded mitochondrial protein enters the
            cytosol when cells undergo apoptosis, and allows activation of
            caspases by binding to inhibitor of apoptosis proteins.
            Overexpression of the encoded protein sensitizes tumor cells to
            apoptosis. A mutation in this gene is associated with young-adult
            onset of nonsyndromic deafness-64. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, May 2013].
            
            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 :: SRR1803613.481583.1,
                                           SRR1660805.394582.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10929711; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000464942.7/
                                                  ENSP00000442360.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AC048338.29        104480-104498
            20-865              AF262240.1         1-846
            866-866             AC048338.29        122259-122259
            867-1370            AF262240.1         848-1351
            1371-1471           AC048338.29        122764-122864
FEATURES             Location/Qualifiers
     source          1..1471
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1471
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="diablo IAP-binding mitochondrial protein"
                     /db_xref="GeneID:56616"
                     /db_xref="HGNC:HGNC:21528"
                     /db_xref="MIM:605219"
     exon            1..88
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..758
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 8; second mitochondria-derived activator of
                     caspase; direct IAP-binding protein with low pI; diablo
                     homolog, mitochondrial; diablo-like protein; second
                     mitochondria-derived activator of caspases"
                     /codon_start=1
                     /product="diablo IAP-binding mitochondrial protein isoform
                     1 precursor"
                     /protein_id="NP_001358262.1"
                     /db_xref="CCDS:CCDS9228.1"
                     /db_xref="GeneID:56616"
                     /db_xref="HGNC:HGNC:21528"
                     /db_xref="MIM:605219"
                     /translation="MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHK
                     TVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITE
                     YTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTA
                     VGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQ
                     KTQEEGEERAESEQEAYLRED"
     exon            89..221
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:2.1.0"
     exon            222..353
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:2.1.0"
     exon            354..464
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:2.1.0"
     exon            465..561
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:2.1.0"
     exon            562..1471
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1365
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="major polyA site"
     polyA_site      1471
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
ORIGIN      
        1 acttccggcg tgtgcgtctg gcgtccgcgc gctgcacaat ggcggctctg aagagttggc
       61 tgtcgcgcag cgtaacttca ttcttcaggt acagacagtg tttgtgtgtt cctgttgtgg
      121 ctaactttaa gaagcggtgt ttctcagaat tgataagacc atggcacaaa actgtgacga
      181 ttggctttgg agtaaccctg tgtgcggttc ctattgcaca gaaatcagag cctcattccc
      241 ttagtagtga agcattgatg aggagagcag tgtctttggt aacagatagc acctctacct
      301 ttctctctca gaccacatat gcgttgattg aagctattac tgaatatact aaggctgttt
      361 ataccttaac ttctctttac cgacaatata caagtttact tgggaaaatg aattcagagg
      421 aggaagatga agtgtggcag gtgatcatag gagccagagc tgagatgact tcaaaacacc
      481 aagagtactt gaagctggaa accacttgga tgactgcagt tggtctttca gagatggcag
      541 cagaagctgc atatcaaact ggcgcagatc aggcctctat aaccgccagg aatcacattc
      601 agctggtgaa actgcaggtg gaagaggtgc accagctctc ccggaaagca gaaaccaagc
      661 tggcagaagc acagatagaa gagctccgtc agaaaacaca ggaggaaggg gaggagcggg
      721 ctgagtcgga gcaggaggcc tacctgcgtg aggattgagg gcctgagcac actgccctgt
      781 ctccccactc agtggggaaa gcaggggcag atgccaccct gcccagggtt ggcatgactg
      841 tctgtgcacc gagaagaggc ggcagatcct gccctggcca atcaggcgag acgcctttgt
      901 gagctgtgag tgcctcctgt ggtctcaggc ttgcgctgga cctggttctt agcccttggg
      961 cactgcaccc tgtttaacat ttcaccccac tctgtacagc tgctcttacc catttttttt
     1021 acctcacacc caaagcattt tgcctacctg ggtcagagag aggagtcctt tttgtcatgc
     1081 ccttaagttc agcaactgtt taacctgttt tcagtcttat ttacgtcgtc aaaaatgatt
     1141 tagtacttgt tccctctgtt gggatgccag ttgtggcagg gggaggggaa cctgtccagt
     1201 ttgtacgatt tctttgtatg tatttctgat gtgttctctg atctgccccc actgtcctgt
     1261 gaggacagct gaggccaagg agtgaaaaac ctattactac taagagaagg ggtgcagagt
     1321 gtttacctgg tgctctcaac aggacttaac atcaacagga cttaacacag gcctcttgtt
     1381 ccttcctttc tttccgtttc tctattgtat ccaaaggaga agagtgtaag attttgtttg
     1441 catctgaaag agaaaatgcg tctctcctgg g
//
