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2024-04-20 20:20:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001195195 1255 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens tumor protein p53 regulated apoptosis inducing protein
1 (TP53AIP1), transcript variant 2, mRNA.
ACCESSION NM_001195195
VERSION NM_001195195.1 GI:304434538
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 1255)
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 1255)
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 1255)
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 1255)
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 1255)
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 1255)
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 1255)
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 1255)
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 1255)
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 1255)
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,
AB045831.1, AP000920.4 and AI872153.1.
This sequence is a reference standard in the RefSeqGene project.
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 (2, also known as beta) uses an
alternate terminal exon and thereby differs in the 3' coding region
and 3' UTR, compared to variant 1. The encoded isoform (b) has a
distinct and shorter 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 :: AB045831.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025086, ERS025087 [ECO:0000350]
##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
473-1085 AB045831.1 1-613
1086-1086 AP000920.4 98677-98677 c
1087-1255 AI872153.1 1-169 c
FEATURES Location/Qualifiers
source 1..1255
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q24"
gene 1..1255
/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"
exon 607..823
/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"
CDS 683..943
/gene="TP53AIP1"
/gene_synonym="P53AIP1"
/note="isoform b is encoded by transcript variant 2"
/codon_start=1
/product="p53-regulated apoptosis-inducing protein 1
isoform b"
/protein_id="NP_001182124.1"
/db_xref="GI:304434539"
/db_xref="CCDS:CCDS55797.1"
/db_xref="GeneID:63970"
/db_xref="HGNC:29984"
/db_xref="MIM:605426"
/translation="
MGSSSEASFRSAQASCSGARRQGLGRGDQNLSVMPPNGRAQTHTPGWVSDPLVLGAQVHGGCRGIEALSVSSGSWSSATVWILTVQ
"
variation 702
/gene="TP53AIP1"
/gene_synonym="P53AIP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:35942033"
exon 824..935
/gene="TP53AIP1"
/gene_synonym="P53AIP1"
/inference="alignment:Splign:1.39.8"
exon 936..1248
/gene="TP53AIP1"
/gene_synonym="P53AIP1"
/inference="alignment:Splign:1.39.8"
polyA_signal 1229..1234
/gene="TP53AIP1"
/gene_synonym="P53AIP1"
polyA_site 1255
/gene="TP53AIP1"
/gene_synonym="P53AIP1"
ORIGIN
gtgggaagttggaaaaaataatctgcaaggtaaacaccttcaagtcaatttcaagaggctggctagaaaccgccaggacttcagggggccctgtctcgcgggtctccctgcgccctcagcactttggcttggtataaggccaccttgtccctgaagagaggcctattttaagctgagcaagaaaaggtgagaaagactaaaatcagctttgtgcagagacgccaatttctgctgcacacatggaaacgatgtgcacatacagcgagctggcccagctcccggccacgtggctcacactgtccgtgctcacccacccgttgccttcacccccagcagcactggttgtgaaaagggtaactgcctgagccaccccaccactgcgggcctgccaaggacaggcaggaactcagccatgccccgcaaggagcccaggggcatctccagggacggctccccagcctatgggctcgctccctgagaggccgtgctcgggctcgcctgctcagctcactccgaaagcctctgctcagacctgcacccagtcacagcagcacagatgtgcaggaggagaccatttccacggaccctccgactcctaggaggcagtcccttagggactggccctaacaacaaatgaggagaagccaagttctctgctttctgcagacagggcctcccctggatgggatcttcctctgaggcgagcttcagatctgctcaagcttcctgcagtggggccaggaggcagggcctgggcaggggagaccagaacctctcggtgatgcctccgaatggcagggctcagacacacacacctggctgggtttcagatcccttagttttgggtgcccaagttcacggagggtgccggggaatagaagctctgtcagtctcgtctggatcttggtcctcagcaactgtctggatcctgacagtgcagtaagagcttgcctggcctgtgtgcagagctgcctcatcctgaaattctgggagttgaaagccccagggcaacccttaaccaatgggggaaaagcattggtgtgtaaatcccccagcttccctgggtgggctgcagctgagccatagtctacatgacacttccgaggatccccagtgggcatgacctcaatcgcccacattggatgccacaacctgcactggcttttctcccttccctgtgggtctctctctgcacttcctcccttgtgcattctaggttcaccttccaaataaatgatgtgcactcagaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:63970 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:63970 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:63970 -> Cellular component: GO:0005739 [mitochondrion] evidence: TAS
by
@meso_cacase at
DBCLS
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