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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
//

Annotations:

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

by @meso_cacase at DBCLS
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