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
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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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