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2024-03-29 18:52:53, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001278302            1853 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO),
            transcript variant 5, mRNA.
ACCESSION   NM_001278302 NR_024601
VERSION     NM_001278302.1  GI:508083040
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 1853)
  AUTHORS   Scavullo,C., Servida,F., Lecis,D., Onida,F., Drago,C., Ferrante,L.,
            Seneci,P., Barcellini,W., Lionetti,M., Todoerti,K., Neri,A.,
            Delia,D. and Deliliers,G.L.
  TITLE     Single-agent Smac-mimetic compounds induce apoptosis in B chronic
            lymphocytic leukaemia (B-CLL)
  JOURNAL   Leuk. Res. 37 (7), 809-815 (2013)
   PUBMED   23618690
REFERENCE   2  (bases 1 to 1853)
  AUTHORS   Tchoghandjian,A., Jennewein,C., Eckhardt,I., Rajalingam,K. and
            Fulda,S.
  TITLE     Identification of non-canonical NF-kappaB signaling as a critical
            mediator of Smac mimetic-stimulated migration and invasion of
            glioblastoma cells
  JOURNAL   Cell Death Dis 4, E564 (2013)
   PUBMED   23538445
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1853)
  AUTHORS   Guerrero,A.D., Schmitz,I., Chen,M. and Wang,J.
  TITLE     Promotion of Caspase Activation by Caspase-9-mediated Feedback
            Amplification of Mitochondrial Damage
  JOURNAL   J Clin Cell Immunol 3 (3) (2012)
   PUBMED   23539542
REFERENCE   4  (bases 1 to 1853)
  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 1853)
  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 1853)
  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 1853)
  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 1853)
  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 1853)
  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 1853)
  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 DA877400.1, BC046209.1,
            BC095468.1, JX679472.1, AK057778.1 and N66735.1.
            On May 31, 2013 this sequence version replaced gi:218505818.
            
            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].
            
            Transcript Variant: This variant (5) differs in its 5' UTR and 5'
            coding region, uses an alternate start codon, and lacks an in-frame
            exon in the internal coding region, compared to variant 1. The
            encoded isoform (4) has a distinct N-terminus and is shorter,
            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 :: BM739108.1, BM746689.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10929711; reported by
                                                  MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-408               DA877400.1         170-577
            409-604             BC046209.1         595-790
            605-684             BC095468.1         89-168
            685-1025            JX679472.1         1-341
            1026-1825           AK057778.1         528-1327
            1826-1853           N66735.1           1-28                c
FEATURES             Location/Qualifiers
     source          1..1853
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1853
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="diablo, IAP-binding mitochondrial protein"
                     /db_xref="GeneID:56616"
                     /db_xref="HGNC:21528"
                     /db_xref="MIM:605219"
     exon            1..604
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:1.39.8"
     exon            605..708
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    646..648
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="upstream in-frame stop codon"
     CDS             685..1113
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="isoform 4 is encoded by transcript variant 5;
                     second mitochondria-derived activator of caspase; direct
                     IAP-binding protein with low pI; diablo homolog,
                     mitochondrial"
                     /codon_start=1
                     /product="diablo homolog, mitochondrial isoform 4"
                     /protein_id="NP_001265231.1"
                     /db_xref="GI:508083041"
                     /db_xref="GeneID:56616"
                     /db_xref="HGNC:21528"
                     /db_xref="MIM:605219"
                     /translation="
MKSDFYFQAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED
"
     misc_feature    <700..1110
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /note="Second Mitochondria-derived Activator of Caspases;
                     Region: Smac_DIABLO; pfam09057"
                     /db_xref="CDD:220098"
     exon            709..819
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:1.39.8"
     variation       770
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:387906893"
     exon            820..916
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:1.39.8"
     exon            917..1832
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /inference="alignment:Splign:1.39.8"
     STS             1544..1693
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /standard_name="NIB962"
                     /db_xref="UniSTS:70282"
     STS             1601..1803
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /standard_name="D12S1399"
                     /db_xref="UniSTS:77884"
     STS             1608..1716
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
                     /standard_name="D12S1578"
                     /db_xref="UniSTS:89979"
     polyA_site      1832
                     /gene="DIABLO"
                     /gene_synonym="DFNA64; SMAC"
ORIGIN      
cgcgatgccggcctcgtccaccgtccacgtgctgcagctgctgcgggagctgctcgccttcgtgctcctcagctacacggtgctcatcggggcgctgctgctggccggctggaccacttacttcctggtgctgaagtgacagcgccgtcgccgcgcccggccccgcctcccgcccggccccgcctcccgcccggccccgcctccctaactcaccaggaaattcccttcaagccctggcccgaactgagtccccgcccacccgccagcgtcacggcgcccgactcagctccgcgccggacccacctccgcgccctcaggccctgcatatgccccgccccgcgcggaagttccggcggttggttgccttgcgcggccgttacagcctttgccctaagcctcgccccctttccccctgcctgcccaatcccgactgcttccttgggtgggggcgtggctatggggcgaggcgctctcaggtggaggccgtgccccgctccgcgctcacgaagctgcgtcacttccggcgtgtgcgtctggcgtccgcgcgctgcacaatggcggctctgaagagttggctgtcgcgcagcgtaacttcattcttcaggttcctgcttggctcgagtttgagtttacagcccctgcaagtaaatccaagagcctgttacagattggcggtcgtgccttatgaaatctgacttctacttccaggctgtttataccttaacttctctttaccgacaatatacaagtttacttgggaaaatgaattcagaggaggaagatgaagtgtggcaggtgatcataggagccagagctgagatgacttcaaaacaccaagagtacttgaagctggaaaccacttggatgactgcagttggtctttcagagatggcagcagaagctgcatatcaaactggcgcagatcaggcctctataaccgccaggaatcacattcagctggtgaaactgcaggtggaagaggtgcaccagctctcccggaaagcagaaaccaagctggcagaagcacagatagaagagctccgtcagaaaacacaggaggaaggggaggagcgggctgagtcggagcaggaggcctacctgcgtgaggattgagggcctgagcacactgccctgtctccccactcagtggggaaagcaggggcagatgccaccctgcccagggttggcatgactgtctgtgcaccgagaagaggcggcagatcctgccctggccaatcaggcgagacgcctttgtgagctgtgagtgcctcctgtggtctcaggcttgcgctggacctggttcttagcccttgggcactgcaccctgtttaacatttcaccccactctgtacagctgctcttacccattttttttacctcacacccaaagcattttgcctacctgggtcagagagaggagtcctttttgtcatgcccttaagttcagcaactgtttaacctgttttcagtcttatttacgtcgtcaaaaatgatttagtacttgttccctctgttgggatgccagttgtggcagggggaggggaacctgtccagtttgtacgatttctttgtatgtatttctgatgtgttctctgatctgcccccactgtcctgtgaggacagctgaggccaaggagtgaaaaacctattactactaagagaaggggtgcagagtgtttacctggtgctctcaacaggacttaacatcaacaggacttaacacaggcctcttgttccttcctttctttccgtttctctattgtatccaaaggagaagagtgtaagattttgtttgcatctgaaagagaaaatgcgtctctcctggggtcctaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:56616 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:56616 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
            GeneID:56616 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
            GeneID:56616 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: TAS
            GeneID:56616 -> Biological process: GO:0008625 [extrinsic apoptotic signaling pathway via death domain receptors] evidence: TAS
            GeneID:56616 -> Biological process: GO:0008631 [intrinsic apoptotic signaling pathway in response to oxidative stress] evidence: IEA
            GeneID:56616 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: TAS
            GeneID:56616 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS
            GeneID:56616 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
            GeneID:56616 -> Cellular component: GO:0005758 [mitochondrial intermembrane space] evidence: TAS
            GeneID:56616 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:56616 -> Cellular component: GO:0009898 [internal side of plasma membrane] evidence: ISS
            GeneID:56616 -> Cellular component: GO:0035631 [CD40 receptor complex] evidence: ISS

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