2024-03-28 21:00:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_019887 2278 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), transcript variant 1, mRNA. ACCESSION NM_019887 VERSION NM_019887.5 GI:507588234 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 2278) 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 2278) 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 2278) 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 2278) 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 2278) 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 2278) 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 2278) 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 2278) 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 2278) 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 2278) 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 DA910387.1, DA915183.1, BC046209.1, AK057778.1 and N66735.1. This sequence is a reference standard in the RefSeqGene project. On May 29, 2013 this sequence version replaced gi:218505810. 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 (1) encodes the longest isoform (1, also known as Smac-alpha). 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 :: BC046209.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: downstream AUG is associated with N-terminal localization signal (PMID:10929711) 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 1-13 DA910387.1 1-13 14-533 DA915183.1 1-520 534-1591 BC046209.1 456-1513 1592-2250 AK057778.1 669-1327 2251-2278 N66735.1 1-28 c FEATURES Location/Qualifiers source 1..2278 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q24.31" gene 1..2278 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /note="diablo, IAP-binding mitochondrial protein" /db_xref="GeneID:56616" /db_xref="HGNC:21528" /db_xref="HPRD:05560" /db_xref="MIM:605219" exon 1..179 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" exon 180..868 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" misc_feature 396..398 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /note="upstream in-frame stop codon" CDS 819..1538 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /note="isoform 1 precursor is encoded by transcript variant 1; second mitochondria-derived activator of caspase; direct IAP-binding protein with low pI; diablo homolog, mitochondrial" /codon_start=1 /product="diablo homolog, mitochondrial isoform 1 precursor" /protein_id="NP_063940.1" /db_xref="GI:9845297" /db_xref="CCDS:CCDS9228.1" /db_xref="GeneID:56616" /db_xref="HGNC:21528" /db_xref="HPRD:05560" /db_xref="MIM:605219" /translation="
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED
" transit_peptide 819..983 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /experiment="experimental evidence, no additional details recorded" /note="Mitochondrion; propagated from UniProtKB/Swiss-Prot (Q9NR28.1)" misc_feature 834..1535 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /note="Second Mitochondria-derived Activator of Caspases; Region: Smac_DIABLO; pfam09057" /db_xref="CDD:149941" mat_peptide 984..1535 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /product="Diablo homolog, mitochondrial" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9NR28.1)" misc_feature 984..998 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9NR28.1); Region: IAP-binding" exon 869..1001 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" exon 1002..1133 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" exon 1134..1244 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" variation 1195 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /replace="c" /replace="t" /db_xref="dbSNP:387906893" exon 1245..1341 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" exon 1342..2257 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /inference="alignment:Splign:1.39.8" STS 1969..2118 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /standard_name="NIB962" /db_xref="UniSTS:70282" STS 2026..2228 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /standard_name="D12S1399" /db_xref="UniSTS:77884" STS 2033..2141 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" /standard_name="D12S1578" /db_xref="UniSTS:89979" polyA_site 2257 /gene="DIABLO" /gene_synonym="DFNA64; SMAC" ORIGIN
gagctcggggaccacgcggaggttgtaattggtctctagaccacacctagttgttgagtgccgctgcttgaaaatctcagttctgccgagatcgcagaatacacacaagctacctttgggcaccagagcagacagaaccgcggagcttcagggtggaagattcgtggaaactttgccaaggccaggacctcgtgtgttcccgtccgcccctctgggacggcgccagcccggcaggccgccgaccgtcctggggctcccgcgcagcgcgatgccggcctcgtccaccgtccacgtgctgcagctgctgcgggagctgctcgccttcgtgctcctcagctacacggtgctcatcggggcgctgctgctggccggctggaccacttacttcctggtgctgaagtgacagcgccgtcgccgcgcccggccccgcctcccgcccggccccgcctcccgcccggccccgcctccctaactcaccaggaaattcccttcaagccctggcccgaactgagtccccgcccacccgccagcgtcacggcgcccgactcagctccgcgccggacccacctccgcgccctcaggccctgcatatgccccgccccgcgcggaagttccggcggttggttgccttgcgcggccgttacagcctttgccctaagcctcgccccctttccccctgcctgcccaatcccgactgcttccttgggtgggggcgtggctatggggcgaggcgctctcaggtggaggccgtgccccgctccgcgctcacgaagctgcgtcacttccggcgtgtgcgtctggcgtccgcgcgctgcacaatggcggctctgaagagttggctgtcgcgcagcgtaacttcattcttcaggtacagacagtgtttgtgtgttcctgttgtggctaactttaagaagcggtgtttctcagaattgataagaccatggcacaaaactgtgacgattggctttggagtaaccctgtgtgcggttcctattgcacagaaatcagagcctcattcccttagtagtgaagcattgatgaggagagcagtgtctttggtaacagatagcacctctacctttctctctcagaccacatatgcgttgattgaagctattactgaatatactaaggctgtttataccttaacttctctttaccgacaatatacaagtttacttgggaaaatgaattcagaggaggaagatgaagtgtggcaggtgatcataggagccagagctgagatgacttcaaaacaccaagagtacttgaagctggaaaccacttggatgactgcagttggtctttcagagatggcagcagaagctgcatatcaaactggcgcagatcaggcctctataaccgccaggaatcacattcagctggtgaaactgcaggtggaagaggtgcaccagctctcccggaaagcagaaaccaagctggcagaagcacagatagaagagctccgtcagaaaacacaggaggaaggggaggagcgggctgagtcggagcaggaggcctacctgcgtgaggattgagggcctgagcacactgccctgtctccccactcagtggggaaagcaggggcagatgccaccctgcccagggttggcatgactgtctgtgcaccgagaagaggcggcagatcctgccctggccaatcaggcgagacgcctttgtgagctgtgagtgcctcctgtggtctcaggcttgcgctggacctggttcttagcccttgggcactgcaccctgtttaacatttcaccccactctgtacagctgctcttacccattttttttacctcacacccaaagcattttgcctacctgggtcagagagaggagtcctttttgtcatgcccttaagttcagcaactgtttaacctgttttcagtcttatttacgtcgtcaaaaatgatttagtacttgttccctctgttgggatgccagttgtggcagggggaggggaacctgtccagtttgtacgatttctttgtatgtatttctgatgtgttctctgatctgcccccactgtcctgtgaggacagctgaggccaaggagtgaaaaacctattactactaagagaaggggtgcagagtgtttacctggtgctctcaacaggacttaacatcaacaggacttaacacaggcctcttgttccttcctttctttccgtttctctattgtatccaaaggagaagagtgtaagattttgtttgcatctgaaagagaaaatgcgtctctcctggggtcctaaaaaaaaaaaaaaaaaaaaaa
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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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