LOCUS       NM_001127241            1439 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 2,
            mRNA.
ACCESSION   NM_001127241
VERSION     NM_001127241.3
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 1439)
  AUTHORS   Hao,S., Tong,J., Jha,A., Risnik,D., Lizardo,D., Lu,X., Goel,A.,
            Opresko,P.L., Yu,J. and Zhang,L.
  TITLE     Synthetical lethality of Werner helicase and mismatch repair
            deficiency is mediated by p53 and PUMA in colon cancer
  JOURNAL   Proc Natl Acad Sci U S A 119 (51), e2211775119 (2022)
   PUBMED   36508676
  REMARK    GeneRIF: Synthetical lethality of Werner helicase and mismatch
            repair deficiency is mediated by p53 and PUMA in colon cancer.
REFERENCE   2  (bases 1 to 1439)
  AUTHORS   Chen,Y., Li,N., Yang,J., Li,K., Tang,M., Zhao,X., Guo,W., Tong,A.,
            Nie,C., Peng,Y. and Yuan,Z.
  TITLE     PUMA overexpression dissociates thioredoxin from ASK1 to activate
            the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in ovarian cancer
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1868 (12), 166553 (2022)
   PUBMED   36122664
  REMARK    GeneRIF: PUMA overexpression dissociates thioredoxin from ASK1 to
            activate the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in
            ovarian cancer.
REFERENCE   3  (bases 1 to 1439)
  AUTHORS   Neuberger,A., Menzer,C., Volk,N., Enk,A.H., Hadaschik,E.N. and
            Lonsdorf,A.S.
  TITLE     Expression of p53 up-regulated modulator of apoptosis (PUMA) in
            non-melanoma skin cancer of long-term immunosuppressed solid organ
            transplant recipients compared to immunocompetent patients
  JOURNAL   Eur J Dermatol 31 (5), 609-615 (2021)
   PUBMED   34903507
  REMARK    GeneRIF: Expression of p53 up-regulated modulator of apoptosis
            (PUMA) in non-melanoma skin cancer of long-term immunosuppressed
            solid organ transplant recipients compared to immunocompetent
            patients.
REFERENCE   4  (bases 1 to 1439)
  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 1439)
  AUTHORS   Yu,J. and Zhang,L.
  TITLE     PUMA, a potent killer with or without p53
  JOURNAL   Oncogene 27 Suppl 1 (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 1439)
  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 1439)
  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 1439)
  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 1439)
  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 1439)
  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 AC008532.7.
            
            On Jun 2, 2019 this sequence version replaced NM_001127241.2.
            
            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 (2) encodes isoform 2 (also known
            as PUMA-beta), which includes the C-terminal BH3 domain and can
            localize to the mitochondria.
            
            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 :: AF354655.1, SRR1163655.659098.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02400288, SAMN02400289
                                           [ECO:0000348]
            ##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
            1-153               AC008532.7         86285-86437         c
            154-344             AC008532.7         80334-80524         c
            345-1439            AC008532.7         74594-75688         c
FEATURES             Location/Qualifiers
     source          1..1439
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1439
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /note="BCL2 binding component 3"
                     /db_xref="GeneID:27113"
                     /db_xref="HGNC:HGNC:17868"
                     /db_xref="MIM:605854"
     exon            1..153
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..461
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /note="isoform 2 is encoded by transcript variant 2; p53
                     up-regulated modulator of apoptosis; p53-upregulated
                     modulator of apoptosis"
                     /codon_start=1
                     /product="bcl-2-binding component 3 isoform 2"
                     /protein_id="NP_001120713.1"
                     /db_xref="CCDS:CCDS46130.1"
                     /db_xref="GeneID:27113"
                     /db_xref="HGNC:HGNC:17868"
                     /db_xref="MIM:605854"
                     /translation="MKFGMGSAQACPCQVPRAASTTWVPCQICGPQPSLSLAEQHLES
                     PVPSAPGALAGGPTQAAPGVRGEEEQWAREIGAQLRRMADDLNAQYERRRQEEQQRHR
                     PSPWRVLYNLIMGLLPLPRGHRAPEMEPN"
     exon            154..344
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /inference="alignment:Splign:2.1.0"
     exon            345..1439
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1417..1422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /note="hexamer: AATAAA"
     polyA_site      1439
                     /gene="BBC3"
                     /gene_synonym="JFY-1; JFY1; PUMA"
                     /note="major polyA site"
ORIGIN      
        1 agagcagggc aggaagtaac aatgagaaac tgaaaaagaa acggaatgga aagctatgag
       61 acaggatgaa atttggcatg gggtctgccc aggcatgtcc atgccaggtg cccagggctg
      121 cttccacgac gtgggtcccc tgccagattt gtggtcctca gccctcgctc tcgctggcgg
      181 agcagcacct ggagtcgccc gtgcccagcg ccccgggggc tctggcgggc ggtcccaccc
      241 aggcggcccc gggagtccgc ggggaggagg aacagtgggc ccgggagatc ggggcccagc
      301 tgcggcggat ggcggacgac ctcaacgcac agtacgagcg gcggagacaa gaggagcagc
      361 agcggcaccg cccctcaccc tggagggtcc tgtacaatct catcatggga ctcctgccct
      421 tacccagggg ccacagagcc cccgagatgg agcccaatta ggtgcctgca cccgcccggt
      481 ggacgtcagg gactcggggg gcaggcccct cccacctcct gacaccctgg ccagcgcggg
      541 ggactttctc tgcaccatgt agcatactgg actcccagcc ctgcctgtcc cgggggcggg
      601 ccggggcagc cactccagcc ccagcccagc ctggggtgca ctgacggaga tgcggactcc
      661 tgggtccctg gccaagaagc caggagaggg acggctgatg gactcagcat cggaaggtgg
      721 cggtgaccga gggggtgggg actgagccgc ccgcctctgc cgcccaccac catctcagga
      781 aaggctgttg tgctggtgcc cgttccagct gcaggggtga cactgggagg ggggggctct
      841 cctctcggtg ctccttcact ctgggcctgg cctcaggccc ctggtgcttc cccccctcct
      901 cctgggaggg ggcccgtgaa gagcaaatga gccaaacgtg accactagcc tcctggagcc
      961 agagagtggg gctcgtttgc cggttgctcc agcccggcgc ccagccatct tccctgagcc
     1021 agccggcggg tggtgggcat gcctgcctca ccttcatcag ggggtggcca ggaggggccc
     1081 agactgtgaa tcctgtgctc tgcccgtgac cgccccccgc cccatcaatc ccattgcata
     1141 ggtttagaga gagcacgtgt gaccactggc attcatttgg ggggtgggag attttggctg
     1201 aagccgcccc agccttagtc cccagggcca agcgctgggg ggaagacggg gagtcaggga
     1261 gggggggaaa tctcggaaga gggaggagtc tgggagtggg gagggatggc ccagcctgta
     1321 agatactgta tatgcgctgc tgtagatacc ggaatgaatt ttctgtacat gtttggttaa
     1381 ttttttttgt acatgatttt tgtatgtttc cttttcaata aaatcagatt ggaacagtg
//
