2024-03-29 20:58:16, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001127242 1359 bp mRNA linear PRI 08-JUL-2013 DEFINITION Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 3, mRNA. ACCESSION NM_001127242 VERSION NM_001127242.2 GI:366039931 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 1359) AUTHORS Follis,A.V., Chipuk,J.E., Fisher,J.C., Yun,M.K., Grace,C.R., Nourse,A., Baran,K., Ou,L., Min,L., White,S.W., Green,D.R. and Kriwacki,R.W. TITLE PUMA binding induces partial unfolding within BCL-xL to disrupt p53 binding and promote apoptosis JOURNAL Nat. Chem. Biol. 9 (3), 163-168 (2013) PUBMED 23340338 REMARK GeneRIF: The PUMA-induced partial unfolding of BCL-xL disrupts interactions between cytosolic p53 and BCL-xL, releasing the bound p53 to initiate apoptosis. REFERENCE 2 (bases 1 to 1359) AUTHORS Spender,L.C., Carter,M.J., O'Brien,D.I., Clark,L.J., Yu,J., Michalak,E.M., Happo,L., Cragg,M.S. and Inman,G.J. TITLE Transforming growth factor-beta directly induces p53-up-regulated modulator of apoptosis (PUMA) during the rapid induction of apoptosis in myc-driven B-cell lymphomas JOURNAL J. Biol. Chem. 288 (7), 5198-5209 (2013) PUBMED 23243310 REMARK GeneRIF: Transforming growth factor-beta directly induces p53-up-regulated modulator of apoptosis (PUMA) during the rapid induction of apoptosis in myc-driven B-cell lymphomas REFERENCE 3 (bases 1 to 1359) AUTHORS Tajnik,M., Strazisar,M., Volavsek,M., Bostjancic,E. and Glavac,D. TITLE BBC3 is down-regulated with increased tumor size independently of p53 expression in head and neck cancer JOURNAL Cancer Biomark 11 (5), 197-208 (2012) PUBMED 23220852 REMARK GeneRIF: we confirmed the model of BBC3-mediated apoptosis, which can be activated with or without p53. REFERENCE 4 (bases 1 to 1359) AUTHORS Chipuk,J.E. and Green,D.R. TITLE PUMA cooperates with direct activator proteins to promote mitochondrial outer membrane permeabilization and apoptosis JOURNAL Cell Cycle 8 (17), 2692-2696 (2009) PUBMED 19652530 REMARK Review article REFERENCE 5 (bases 1 to 1359) AUTHORS Yu,J. and Zhang,L. TITLE PUMA, a potent killer with or without p53 JOURNAL Oncogene 27 (SUPPL 1), S71-S83 (2008) PUBMED 19641508 REMARK GeneRIF: PUMA is a critical mediator of p53-dependent & -independent apoptosis induced by a wide variety of stimuli.It directly binds and antagonizes all known antiapoptotic Bcl-2 family members to induce mitochondrial dysfunction & caspase activation. Review. Review article REFERENCE 6 (bases 1 to 1359) AUTHORS Hoque,M.O., Begum,S., Sommer,M., Lee,T., Trink,B., Ratovitski,E. and Sidransky,D. TITLE PUMA in head and neck cancer JOURNAL Cancer Lett. 199 (1), 75-81 (2003) PUBMED 12963126 REMARK GeneRIF: PUMA suppresses tumor cell growth in head/neck cancer, but it does not appear to be a direct target of inactivation in head and neck tumorigenesis. REFERENCE 7 (bases 1 to 1359) AUTHORS Yu,J., Wang,Z., Kinzler,K.W., Vogelstein,B. and Zhang,L. TITLE PUMA mediates the apoptotic response to p53 in colorectal cancer cells JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (4), 1931-1936 (2003) PUBMED 12574499 REMARK GeneRIF: role in mediating the apoptotic response to p53 in colorectal cancer cells REFERENCE 8 (bases 1 to 1359) AUTHORS Han,J., Flemington,C., Houghton,A.B., Gu,Z., Zambetti,G.P., Lutz,R.J., Zhu,L. and Chittenden,T. TITLE Expression of bbc3, a pro-apoptotic BH3-only gene, is regulated by diverse cell death and survival signals JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (20), 11318-11323 (2001) PUBMED 11572983 REFERENCE 9 (bases 1 to 1359) AUTHORS Nakano,K. and Vousden,K.H. TITLE PUMA, a novel proapoptotic gene, is induced by p53 JOURNAL Mol. Cell 7 (3), 683-694 (2001) PUBMED 11463392 REFERENCE 10 (bases 1 to 1359) AUTHORS Yu,J., Zhang,L., Hwang,P.M., Kinzler,K.W. and Vogelstein,B. TITLE PUMA induces the rapid apoptosis of colorectal cancer cells JOURNAL Mol. Cell 7 (3), 673-682 (2001) PUBMED 11463391 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF354656.1, BG258126.1, U82987.1 and AA887822.1. On Dec 30, 2011 this sequence version replaced gi:187829744. Summary: This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. Transcript Variant: This variant (3) lacks two exons spanning the 5' and central coding regions, resulting in a frameshift in the 3' coding region, compared to variant 2. The encoded isoform (3, also known as PUMA-delta) has the same N-terminus but is otherwise distinct and shorter, compared to isoform 2. 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 :: AF354656.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 11463392 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-744 AF354656.1 1-744 745-1134 BG258126.1 9-398 1135-1261 U82987.1 1396-1522 1262-1359 AA887822.1 1-98 c FEATURES Location/Qualifiers source 1..1359 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.3-q13.4" gene 1..1359 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /note="BCL2 binding component 3" /db_xref="GeneID:27113" /db_xref="HGNC:17868" /db_xref="MIM:605854" exon 1..252 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /inference="alignment:Splign:1.39.8" misc_feature 156..158 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /note="upstream in-frame stop codon" CDS 165..470 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /note="isoform 3 is encoded by transcript variant 3; p53 up-regulated modulator of apoptosis" /codon_start=1 /product="bcl-2-binding component 3 isoform 3" /protein_id="NP_001120714.1" /db_xref="GI:187829745" /db_xref="CCDS:CCDS46128.1" /db_xref="GeneID:27113" /db_xref="HGNC:17868" /db_xref="MIM:605854" /translation="
MKFGMGSAQACPCQVPRAASTTWVPCQICETRGAAAAPPLTLEGPVQSHHGTPALTQGPQSPRDGAQLGACTRPVDVRDSGGRPLPPPDTLASAGDFLCTM
" exon 253..1349 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /inference="alignment:Splign:1.39.8" STS 462..1338 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /standard_name="BBC3_3813" /db_xref="UniSTS:463239" variation 732 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /replace="c" /replace="t" /db_xref="dbSNP:200154173" STS 958..1079 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" /standard_name="RH70710" /db_xref="UniSTS:9537" polyA_signal 1325..1330 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" polyA_site 1347 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" polyA_site 1349 /gene="BBC3" /gene_synonym="JFY-1; JFY1; PUMA" ORIGIN
gaggcgattgcgattgggtgagacccagtaaggatggaaagtgtagaggagacaggaatccacggctttggaaaaaggaaggacaaaactcaccaaaccagagcagggcaggaagtaacaatgagaaactgaaaaagaaacggaatggaaagctatgagacaggatgaaatttggcatggggtctgcccaggcatgtccatgccaggtgcccagggctgcttccacgacgtgggtcccctgccagatttgtgagacaagaggagcagcagcggcaccgcccctcaccctggagggtcctgtacaatctcatcatgggactcctgcccttacccaggggccacagagcccccgagatggagcccaattaggtgcctgcacccgcccggtggacgtcagggactcggggggcaggcccctcccacctcctgacaccctggccagcgcgggggactttctctgcaccatgtagcatactggactcccagccctgcctgtcccgggggcgggccggggcagccactccagccccagcccagcctggggtgcactgacggagatgcggactcctgggtccctggccaagaagccaggagagggacggctgatggactcagcatcggaaggtggcggtgaccgagggggtggggactgagccgcccgcctctgccgcccaccaccatctcaggaaaggctgttgtgctggtgcccgttccagctgcaggggtgacactggggggggggggctctcctctcggtgctccttcactctgggcctggcctcaggcccctggtgcttccccccctcctcctgggagggggcccgtgaagagcaaatgagccaaacgtgaccactagcctcctggagccagagagtggggctcgtttgccggttgctccagcccggcgcccagccatcttccctgagccagccggcgggtggtgggcatgcctgcctcaccttcatcagggggtggccaggaggggcccagactgtgaatcctgtgctctgcccgtgaccgccccccgccccatcaatcccattgcataggtttagagagagcacgtgtgaccactggcattcatttggggggtgggagattttggctgaagccgccccagccttagtccccagggccaagcgctggggggaagacggggagtcagggagggggggaaatctcggaagagggaggagtctgggagtggggagggatggcccagcctgtaagatactgtatatgcgctgctgtagataccggaatgaattttctgtacatgtttggttaattttttttgtacatgatttttgtatgtttccttttcaataaaatcagattggaacagtggaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:27113 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:27113 -> Biological process: GO:0001836 [release of cytochrome c from mitochondria] evidence: IDA GeneID:27113 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:27113 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:27113 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IDA GeneID:27113 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: ISS GeneID:27113 -> Biological process: GO:0008340 [determination of adult lifespan] evidence: ISS GeneID:27113 -> Biological process: GO:0032464 [positive regulation of protein homooligomerization] evidence: IDA GeneID:27113 -> Biological process: GO:0032471 [reduction of endoplasmic reticulum calcium ion concentration] evidence: IDA GeneID:27113 -> Biological process: GO:0034976 [response to endoplasmic reticulum stress] evidence: IDA GeneID:27113 -> Biological process: GO:0043525 [positive regulation of neuron apoptotic process] evidence: ISS GeneID:27113 -> Biological process: GO:0045926 [negative regulation of growth] evidence: IMP GeneID:27113 -> Biological process: GO:0051209 [release of sequestered calcium ion into cytosol] evidence: IDA GeneID:27113 -> Biological process: GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] evidence: ISS GeneID:27113 -> Biological process: GO:0070245 [positive regulation of thymocyte apoptotic process] evidence: ISS GeneID:27113 -> Biological process: GO:0071456 [cellular response to hypoxia] evidence: IEP GeneID:27113 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IDA GeneID:27113 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IGI GeneID:27113 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: IDA GeneID:27113 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:27113 -> Biological process: GO:0097194 [execution phase of apoptosis] evidence: IDA GeneID:27113 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: IDA GeneID:27113 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS GeneID:27113 -> Biological process: GO:2001056 [positive regulation of cysteine-type endopeptidase activity] evidence: ISS GeneID:27113 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP GeneID:27113 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: TAS GeneID:27113 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:27113 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA GeneID:27113 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:27113 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
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