GGRNA | NM_001251964.1

LOCUS       NM_001251964            3158 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens tumor protein p53 regulated apoptosis inducing protein
            1 (TP53AIP1), transcript variant 4, mRNA.
ACCESSION   NM_001251964
VERSION     NM_001251964.1  GI:354459395
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 3158)
  AUTHORS   Luykx,J.J., Bakker,S.C., Lentjes,E., Neeleman,M., Strengman,E.,
            Mentink,L., Deyoung,J., de Jong,S., Sul,J.H., Eskin,E., van
            Eijk,K., van Setten,J., Buizer-Voskamp,J.E., Cantor,R.M., Lu,A.,
            van Amerongen,M., van Dongen,E.P., Keijzers,P., Kappen,T.,
            Borgdorff,P., Bruins,P., Derks,E.M., Kahn,R.S. and Ophoff,R.A.
  TITLE     Genome-wide association study of monoamine metabolite levels in
            human cerebrospinal fluid
  JOURNAL   Mol. Psychiatry (2013) In press
   PUBMED   23319000
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 3158)
  AUTHORS   Yuan,L., Tian,C., Wang,H., Song,S., Li,D., Xing,G., Yin,Y., He,F.
            and Zhang,L.
  TITLE     Apak competes with p53 for direct binding to intron 1 of p53AIP1 to
            regulate apoptosis
  JOURNAL   EMBO Rep. 13 (4), 363-370 (2012)
   PUBMED   22334068
  REMARK    GeneRIF: Apak competes with p53 for binding to inhibit p53AIP1
            expression.
REFERENCE   3  (bases 1 to 3158)
  AUTHORS   Luedeke,M., Coinac,I., Linnert,C.M., Bogdanova,N., Rinckleb,A.E.,
            Schrader,M., Vogel,W., Hoegel,J., Meyer,A., Dork,T. and Maier,C.
  TITLE     Prostate cancer risk is not altered by TP53AIP1 germline mutations
            in a German case-control series
  JOURNAL   PLoS ONE 7 (3), E34128 (2012)
   PUBMED   22457820
  REMARK    GeneRIF: large sample size of the combined cohort rejects a
            high-risk effect greater than 2.2 and indicates a limited role of
            TP53AIP1 in prostate cancer predisposition
REFERENCE   4  (bases 1 to 3158)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat. Res. 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3158)
  AUTHORS   Yamashita,S., Chujo,M., Miyawaki,M., Tokuishi,K., Anami,K.,
            Yamamoto,S. and Kawahara,K.
  TITLE     Combination of p53AIP1 and survivin expression is a powerful
            prognostic marker in non-small cell lung cancer
  JOURNAL   J. Exp. Clin. Cancer Res. 28, 22 (2009)
   PUBMED   19228369
  REMARK    GeneRIF: Data suggest that the combination of p53AIP1 and survivin
            gene expression may be a powerful tool to stratify subgroups with
            better or worse prognosis from the variable non-small cell lung
            cancer population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3158)
  AUTHORS   Wesierska-Gadek,J., Gueorguieva,M. and Horky,M.
  TITLE     Roscovitine-induced up-regulation of p53AIP1 protein precedes the
            onset of apoptosis in human MCF-7 breast cancer cells
  JOURNAL   Mol. Cancer Ther. 4 (1), 113-124 (2005)
   PUBMED   15657359
  REMARK    GeneRIF: Roscovitine induced up-regulation of p53AIP1 protein and
            the depolarization of mitochondrial potential.
            Erratum:[Mol Cancer Ther. 2005 Mar;4(3):503]
REFERENCE   7  (bases 1 to 3158)
  AUTHORS   Chan,K.T. and Lung,M.L.
  TITLE     Mutant p53 expression enhances drug resistance in a hepatocellular
            carcinoma cell line
  JOURNAL   Cancer Chemother. Pharmacol. 53 (6), 519-526 (2004)
   PUBMED   15004724
  REMARK    GeneRIF: expression of the p53 mutant, R248Q, in liver cancer cells
            may enhance their drug resistance and upregulation of
            P-glycoprotein activity may contribute to this protective effect.
REFERENCE   8  (bases 1 to 3158)
  AUTHORS   Kovesi,G. and Szende,B.
  TITLE     Changes in apoptosis and mitotic index, p53 and Ki67 expression in
            various types of oral leukoplakia
  JOURNAL   Oncology 65 (4), 331-336 (2003)
   PUBMED   14707453
  REMARK    GeneRIF: The expression of Ki67 and p53 in various forms of
            leukoplakia point to the increasing instability of the genome in
            parallel with the severity of leukoplakia.
REFERENCE   9  (bases 1 to 3158)
  AUTHORS   Matsuda,K., Yoshida,K., Taya,Y., Nakamura,K., Nakamura,Y. and
            Arakawa,H.
  TITLE     p53AIP1 regulates the mitochondrial apoptotic pathway
  JOURNAL   Cancer Res. 62 (10), 2883-2889 (2002)
   PUBMED   12019168
  REMARK    GeneRIF: p53AIP1 regulates the mitochondrial apoptotic pathway.
REFERENCE   10 (bases 1 to 3158)
  AUTHORS   Oda,K., Arakawa,H., Tanaka,T., Matsuda,K., Tanikawa,C., Mori,T.,
            Nishimori,H., Tamai,K., Tokino,T., Nakamura,Y. and Taya,Y.
  TITLE     p53AIP1, a potential mediator of p53-dependent apoptosis, and its
            regulation by Ser-46-phosphorylated p53
  JOURNAL   Cell 102 (6), 849-862 (2000)
   PUBMED   11030628
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL703609.1, DB111427.1,
            AB045832.1, AP000920.4 and AI924030.1.
            
            Summary: This gene is specifically expressed in the thymus, and
            encodes a protein that is localized to the mitochondrion. The
            expression of this gene is inducible by p53, and it is thought to
            play an important role in mediating p53-dependent apoptosis.
            Alternatively spliced transcript variants encoding different
            isoforms have been described for this gene. [provided by RefSeq,
            Oct 2011].
            
            Transcript Variant: This variant (4, also known as gamma) differs
            at the 3' end compared to variant 1, and encodes a shorter isoform
            (d) with a distinct C-terminus compared to isoform a.
            
            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 :: AB045832.1, AK314286.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025091 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-263               AL703609.1         1-263
            264-472             DB111427.1         8-216
            473-2581            AB045832.1         1-2109
            2582-2582           AP000920.4         99702-99702         c
            2583-3130           AB045832.1         2111-2658
            3131-3158           AI924030.1         1-28                c
FEATURES             Location/Qualifiers
     source          1..3158
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24"
     gene            1..3158
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /note="tumor protein p53 regulated apoptosis inducing
                     protein 1"
                     /db_xref="GeneID:63970"
                     /db_xref="HGNC:29984"
                     /db_xref="MIM:605426"
     exon            1..606
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /inference="alignment:Splign:1.39.8"
     STS             536..1501
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /db_xref="UniSTS:489930"
     STS             596..1133
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /db_xref="UniSTS:481807"
     exon            607..3131
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    635..637
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /note="upstream in-frame stop codon"
     STS             638..1031
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /db_xref="UniSTS:482443"
     CDS             683..1009
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /note="isoform d is encoded by transcript variant 4"
                     /codon_start=1
                     /product="p53-regulated apoptosis-inducing protein 1
                     isoform d"
                     /protein_id="NP_001238893.1"
                     /db_xref="GI:354459396"
                     /db_xref="CCDS:CCDS58195.1"
                     /db_xref="GeneID:63970"
                     /db_xref="HGNC:29984"
                     /db_xref="MIM:605426"
                     /translation="

MGSSSEASFRSAQASCSGARRQGLGRGDQNLSVMPPNGRAQTHTPGWVSPCSENRDGLLPATAPGRLCSHRGADIPSFQTHQDPVTASGSSELHADCPQFRALDRAGN

"
     variation       702
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35942033"
     variation       1154
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4987002"
     variation       1187
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4987001"
     polyA_signal    3113..3118
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
     polyA_site      3131
                     /gene="TP53AIP1"
                     /gene_synonym="P53AIP1"
ORIGIN

gtgggaagttggaaaaaataatctgcaaggtaaacaccttcaagtcaatttcaagaggctggctagaaaccgccaggacttcagggggccctgtctcgcgggtctccctgcgccctcagcactttggcttggtataaggccaccttgtccctgaagagaggcctattttaagctgagcaagaaaaggtgagaaagactaaaatcagctttgtgcagagacgccaatttctgctgcacacatggaaacgatgtgcacatacagcgagctggcccagctcccggccacgtggctcacactgtccgtgctcacccacccgttgccttcacccccagcagcactggttgtgaaaagggtaactgcctgagccaccccaccactgcgggcctgccaaggacaggcaggaactcagccatgccccgcaaggagcccaggggcatctccagggacggctccccagcctatgggctcgctccctgagaggccgtgctcgggctcgcctgctcagctcactccgaaagcctctgctcagacctgcacccagtcacagcagcacagatgtgcaggaggagaccatttccacggaccctccgactcctaggaggcagtcccttagggactggccctaacaacaaatgaggagaagccaagttctctgctttctgcagacagggcctcccctggatgggatcttcctctgaggcgagcttcagatctgctcaagcttcctgcagtggggccaggaggcagggcctgggcaggggagaccagaacctctcggtgatgcctccgaatggcagggctcagacacacacacctggctgggtaagtccctgcagtgaaaaccgagacggtcttttgcctgccacagccccgggcagactctgctctcaccgtggtgccgacatcccaagttttcagactcaccaggacccagtgacagcatctgggtcctcagagctgcatgcggactgtccccagttcagagcattggacagagctgggaactgacagccctgatcaatagtcccaagaggaaggccagccctcctcctcctcggaatcctgggtttctaggaggcagaaaggttttctgagaaacaaggcttttggaaggaaggtggtgcctggctgcatccagaaagtgagagctaaatggagaggctgaacaaaggacgcatgtggagcgcatggggagggaaggctggggtgcagggctccgggcctgctcttctgcgtccaccccggatcctgcttttgtccagatgggcctcggagcaccagtcacttactccaagaagtcgtttcctgtggccaataatgaagatgacgcactcggaagcttgtgggctctgaggagggggtaaggatgcaggggccatgcattcatcccagcacaggcagcgcatggctccggaagcagacacaggccaggcctgggccaggagtctgccaggagccaggagcgcctacacctccctggaggcccacacttctctccccagaagctcacacgcagcgtctgaggtgcagggcccaggtgtgctggggtgacaaagccccgagctgtggtgatgggagggaggaagcgccggtttatgtctgttctttgggctgatttgctgtctctgtctttgtctctaatgtcctttgcaccactgaccttgaggagccttttgttcctcctgtcccagtttggtttccatgggaacctgagtggcagcgtcatcactttgctgaggtgaaatgcccctggatgccatgaatacctaggggaaaacctgccagagaagaataaaccatccaagagacggcgctgcagggcctcacagtctgcttccatttcctctcaggtttcagatcccttagttttgggtgcccaagttcacggagggtgccggggaatagaagctctgtcagtctcgtctggatcttggtcctcagcaactgtctggatcctgacaggtgtgtgataattacttagtgaattcatgggtgtgggccgtgatagaattaagtgatttgatgtcctctcgataaatccaggtaacgacatagggttttttgagtttgaccctctcctgaaatttgccatctgacaaaatgacatcatggcagagttgtaaactgctgtggatgtattttatttaatttctcaaattaaaataaaaggtaacggtacacttaagagtggtcactacagccaagctaattgacacccactgaactttctggaatgggccataggatgctggacaataggacagatttggaatgagcagtcttccattccaactttagtttctgcaaagctgttgagagcatggagccaggctgcggggtctgggttcaaatcctgactctaccacttaggagctgtgtgtacatgggcaggacaactggcctgcctgagtctcagtgtaggtgtctgtaaaatggaatgataatagcttccatctcacagattcactgtgtgggtaaaatgatagatatgaaatgctaagaacagcacctgtacgtagtatgtcctacatatcttactgttatcattagcatattttgtttattccaagatacatttttgttggcccatttgatatctatgaaatctaaagattttttttcctgtcttgggagatagaataatgatgtgccttacaatggattgtgttttagattcactgaaattcattattgttgtttttatccctggtctgtaacatgatatttggtaaataacaaggactccatacgttttgcaaagagtaaattctctccctccctactgaggccttggtctaggtctctccaggcctttccttcctggagccacagtgcttagagacaggccactggggtcagcatttgagctcagctatgatcagaaaaaagcaccgttgaggttgcagtgagccgagatcacgccactgcactccagcctgggcgacagagagagactccatctcaaaacaaaaacaaacaaacaaacagaaagcaccgtcgagaaatggctccagcgctgactagcggccacctcatttccccccttgaccactgggccagttgggtggctaggttgcctcattttgcatccttctgtatccccaaatctgaaataaaagctggaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa

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