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2024-04-25 14:27:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014417 1853 bp mRNA linear PRI 08-JUL-2013
DEFINITION Homo sapiens BCL2 binding component 3 (BBC3), transcript variant 4,
mRNA.
ACCESSION NM_014417
VERSION NM_014417.4 GI:366039932
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 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 1853)
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 1853)
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 1853)
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 1853)
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 1853)
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 1853)
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 1853)
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 1853)
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 1853)
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 AF332558.1, BG258126.1,
U82987.1 and AA887822.1.
On Dec 30, 2011 this sequence version replaced gi:187829711.
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 (4) has alternate exon structure
at its 5' end and it thus differs in the 5' UTR and 5' coding
region, compared to variant 2. The encoded isoform (4, also known
as PUMA-alpha) has a distinct N-terminus and is longer than isoform
2. Isoform 4 also 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 :: AF332558.1, U82987.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025089, ERS025093 [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
1-1238 AF332558.1 1-1238
1239-1628 BG258126.1 9-398
1629-1755 U82987.1 1396-1522
1756-1853 AA887822.1 1-98 c
FEATURES Location/Qualifiers
source 1..1853
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.3-q13.4"
gene 1..1853
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/note="BCL2 binding component 3"
/db_xref="GeneID:27113"
/db_xref="HGNC:17868"
/db_xref="HPRD:16165"
/db_xref="MIM:605854"
exon 1..266
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/inference="alignment:Splign:1.39.8"
STS 122..1093
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/db_xref="UniSTS:494530"
STS 157..965
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/db_xref="UniSTS:480681"
STS 208..1664
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/db_xref="UniSTS:489843"
misc_feature 210..212
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/note="upstream in-frame stop codon"
STS 240..898
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/db_xref="UniSTS:482431"
exon 267..555
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/inference="alignment:Splign:1.39.8"
CDS 282..863
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/note="isoform 4 is encoded by transcript variant 4; p53
up-regulated modulator of apoptosis"
/codon_start=1
/product="bcl-2-binding component 3 isoform 4"
/protein_id="NP_055232.1"
/db_xref="GI:15193488"
/db_xref="CCDS:CCDS12697.1"
/db_xref="GeneID:27113"
/db_xref="HGNC:17868"
/db_xref="HPRD:16165"
/db_xref="MIM:605854"
/translation="
MARARQEGSSPEPVEGLARDGPRPFPLGRLVPSAVSCGLCEPGLAAAPAAPTLLPAAYLCAPTAPPAVTAALGGSRWPGGPRSRPRGPRPDGPQPSLSLAEQHLESPVPSAPGALAGGPTQAAPGVRGEEEQWAREIGAQLRRMADDLNAQYERRRQEEQQRHRPSPWRVLYNLIMGLLPLPRGHRAPEMEPN
"
misc_feature 690..734
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9BXH1.1);
Region: BH3"
exon 556..746
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/inference="alignment:Splign:1.39.8"
exon 747..1843
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/inference="alignment:Splign:1.39.8"
STS 956..1832
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/standard_name="BBC3_3813"
/db_xref="UniSTS:463239"
variation 1226
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/replace="c"
/replace="t"
/db_xref="dbSNP:200154173"
STS 1452..1573
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
/standard_name="RH70710"
/db_xref="UniSTS:9537"
polyA_signal 1819..1824
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
polyA_site 1841
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
polyA_site 1843
/gene="BBC3"
/gene_synonym="JFY-1; JFY1; PUMA"
ORIGIN
gcggcgcgagccacatgcgagcgggcgcctggcggcggcggcggcggcaccagcgatcccagcagcggccacgacgcggacgcgcctgcggcccggggagcagcagcagccacagccacagcagccgccactgcagttagagcggcagcagcagcgacagccacagcagcagccgccgcggagagcggcgctcggcgggcgcgccctcctgaaggaagccgcccgccccccaccgccgccccctccggcgtgttcatgcccccggggccccagggagcgccatggcccgcgcacgccaggagggcagctccccggagcccgtagagggcctggcccgcgacggcccgcgccccttcccgctcggccgcctggtgccctcggcagtgtcctgcggcctctgcgagcccggcctggctgccgcccccgccgcccccaccctgctgcccgctgcctacctctgcgcccccaccgccccacccgccgtcaccgccgccctggggggttcccgctggcctgggggtccccgcagccggccccgaggcccgcgcccggacggtcctcagccctcgctctcgctggcggagcagcacctggagtcgcccgtgcccagcgccccgggggctctggcgggcggtcccacccaggcggccccgggagtccgcggggaggaggaacagtgggcccgggagatcggggcccagctgcggcggatggcggacgacctcaacgcacagtacgagcggcggagacaagaggagcagcagcggcaccgcccctcaccctggagggtcctgtacaatctcatcatgggactcctgcccttacccaggggccacagagcccccgagatggagcccaattaggtgcctgcacccgcccggtggacgtcagggactcggggggcaggcccctcccacctcctgacaccctggccagcgcgggggactttctctgcaccatgtagcatactggactcccagccctgcctgtcccgggggcgggccggggcagccactccagccccagcccagcctggggtgcactgacggagatgcggactcctgggtccctggccaagaagccaggagagggacggctgatggactcagcatcggaaggtggcggtgaccgagggggtggggactgagccgcccgcctctgccgcccaccaccatctcaggaaaggctgttgtgctggtgcccgttccagctgcaggggtgacactggggggggggggctctcctctcggtgctccttcactctgggcctggcctcaggcccctggtgcttccccccctcctcctgggagggggcccgtgaagagcaaatgagccaaacgtgaccactagcctcctggagccagagagtggggctcgtttgccggttgctccagcccggcgcccagccatcttccctgagccagccggcgggtggtgggcatgcctgcctcaccttcatcagggggtggccaggaggggcccagactgtgaatcctgtgctctgcccgtgaccgccccccgccccatcaatcccattgcataggtttagagagagcacgtgtgaccactggcattcatttggggggtgggagattttggctgaagccgccccagccttagtccccagggccaagcgctggggggaagacggggagtcagggagggggggaaatctcggaagagggaggagtctgggagtggggagggatggcccagcctgtaagatactgtatatgcgctgctgtagataccggaatgaattttctgtacatgtttggttaattttttttgtacatgatttttgtatgtttccttttcaataaaatcagattggaacagtggaaaaaaaaaaa
//
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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