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2024-04-27 06:02:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_145886 3022 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens p53-induced death domain protein (PIDD), transcript
variant 1, mRNA.
ACCESSION NM_145886
VERSION NM_145886.3 GI:302318965
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 3022)
AUTHORS Ando,K., Kernan,J.L., Liu,P.H., Sanda,T., Logette,E., Tschopp,J.,
Look,A.T., Wang,J., Bouchier-Hayes,L. and Sidi,S.
TITLE PIDD death-domain phosphorylation by ATM controls prodeath versus
prosurvival PIDDosome signaling
JOURNAL Mol. Cell 47 (5), 681-693 (2012)
PUBMED 22854598
REMARK GeneRIF: The ATM phosphorylation of the PIDD DD enables a binary
switch through which cells elect to survive or die upon DNA injury.
REFERENCE 2 (bases 1 to 3022)
AUTHORS Logette,E., Schuepbach-Mallepell,S., Eckert,M.J., Leo,X.H.,
Jaccard,B., Manzl,C., Tardivel,A., Villunger,A., Quadroni,M.,
Gaide,O. and Tschopp,J.
TITLE PIDD orchestrates translesion DNA synthesis in response to UV
irradiation
JOURNAL Cell Death Differ. 18 (6), 1036-1045 (2011)
PUBMED 21415862
REMARK GeneRIF: PIDD performs key functions upon UV irradiation, including
TLS, NHEJ, NF-kappaB activation and cell death.
REFERENCE 3 (bases 1 to 3022)
AUTHORS Huang,L., Han,D., Yang,X., Qin,B., Ji,G. and Yu,L.
TITLE PIDD4, a novel PIDD isoform without the LRR domain, can
independently induce cell apoptosis in cytoplasm
JOURNAL Biochem. Biophys. Res. Commun. 407 (1), 86-91 (2011)
PUBMED 21371439
REMARK GeneRIF: a new splicing variant of PIDD named PIDD4 is reported.
REFERENCE 4 (bases 1 to 3022)
AUTHORS Tinel,A., Eckert,M.J., Logette,E., Lippens,S., Janssens,S.,
Jaccard,B., Quadroni,M. and Tschopp,J.
TITLE Regulation of PIDD auto-proteolysis and activity by the molecular
chaperone Hsp90
JOURNAL Cell Death Differ. 18 (3), 506-515 (2011)
PUBMED 20966961
REMARK GeneRIF: Hsp90 has a major role in controlling PIDD functional
activity.
REFERENCE 5 (bases 1 to 3022)
AUTHORS Jang,T.H., Bae,J.Y., Park,O.K., Kim,J.H., Cho,K.H., Jeon,J.H. and
Park,H.H.
TITLE Identification and analysis of dominant negative mutants of RAIDD
and PIDD
JOURNAL Biochim. Biophys. Acta 1804 (7), 1557-1563 (2010)
PUBMED 20406701
REMARK GeneRIF: point mutations on RAIDD (R147E) and on PIDD (Y814A) exert
a dominant negative effect on the formation of the PIDDosome, and
that this effect cannot be applied after the PIDDosome has been
formed
REFERENCE 6 (bases 1 to 3022)
AUTHORS Vakifahmetoglu,H., Olsson,M., Orrenius,S. and Zhivotovsky,B.
TITLE Functional connection between p53 and caspase-2 is essential for
apoptosis induced by DNA damage
JOURNAL Oncogene 25 (41), 5683-5692 (2006)
PUBMED 16652156
REFERENCE 7 (bases 1 to 3022)
AUTHORS Janssens,S., Tinel,A., Lippens,S. and Tschopp,J.
TITLE PIDD mediates NF-kappaB activation in response to DNA damage
JOURNAL Cell 123 (6), 1079-1092 (2005)
PUBMED 16360037
REMARK GeneRIF: PIDD plays a critical role in DNA-damage-induced NF-kappaB
activation, controlling the balance between life and death upon DNA
damage.
REFERENCE 8 (bases 1 to 3022)
AUTHORS Tinel,A. and Tschopp,J.
TITLE The PIDDosome, a protein complex implicated in activation of
caspase-2 in response to genotoxic stress
JOURNAL Science 304 (5672), 843-846 (2004)
PUBMED 15073321
REMARK GeneRIF: activation of caspase-2 occurs in a complex that contains
PIDD, whose expression is induced by p53, and RAIDD; increased PIDD
expression resulted in spontaneous activation of caspase-2 and
sensitization to apoptosis by genotoxic stimuli
REFERENCE 9 (bases 1 to 3022)
AUTHORS Lin,Y., Ma,W. and Benchimol,S.
TITLE Pidd, a new death-domain-containing protein, is induced by p53 and
promotes apoptosis
JOURNAL Nat. Genet. 26 (1), 122-127 (2000)
PUBMED 10973264
REFERENCE 10 (bases 1 to 3022)
AUTHORS Telliez,J.B., Bean,K.M. and Lin,L.L.
TITLE LRDD, a novel leucine rich repeat and death domain containing
protein
JOURNAL Biochim. Biophys. Acta 1478 (2), 280-288 (2000)
PUBMED 10825539
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CN427946.1, AF274972.1,
BX349115.2 and BQ214414.1.
On Aug 6, 2010 this sequence version replaced gi:61742783.
Summary: The protein encoded by this gene contains a leucine-rich
repeat and a death domain. This protein has been shown to interact
with other death domain proteins, such as Fas (TNFRSF6)-associated
via death domain (FADD) and MAP-kinase activating death
domain-containing protein (MADD), and thus may function as an
adaptor protein in cell death-related signaling processes. The
expression of the mouse counterpart of this gene has been found to
be positively regulated by the tumor suppressor p53 and to induce
cell apoptosis in response to DNA damage, which suggests a role for
this gene as an effector of p53-dependent apoptosis. Alternative
splicing results in multiple transcript variants. [provided by
RefSeq, Aug 2010].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (1).
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 :: AF274972.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-17 CN427946.1 1-17
18-323 AF274972.1 14-319
324-324 CN427946.1 323-323
325-1138 AF274972.1 321-1134
1139-1198 BX349115.2 492-551
1199-2904 AF274972.1 1195-2900
2905-3022 BQ214414.1 363-480
FEATURES Location/Qualifiers
source 1..3022
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11p15.5"
gene 1..3022
/gene="PIDD"
/gene_synonym="LRDD"
/note="p53-induced death domain protein"
/db_xref="GeneID:55367"
/db_xref="HGNC:16491"
/db_xref="MIM:605247"
exon 1..72
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
variation 17
/gene="PIDD"
/gene_synonym="LRDD"
/replace="c"
/replace="t"
/db_xref="dbSNP:7484123"
misc_feature 37..39
/gene="PIDD"
/gene_synonym="LRDD"
/note="upstream in-frame stop codon"
exon 73..442
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
CDS 148..2880
/gene="PIDD"
/gene_synonym="LRDD"
/note="isoform 1 is encoded by transcript variant 1;
leucine-rich repeats and death domain containing;
leucine-rich repeat and death domain-containing protein;
p53-induced protein with a death domain"
/codon_start=1
/product="p53-induced protein with a death domain isoform
1"
/protein_id="NP_665893.2"
/db_xref="GI:61742784"
/db_xref="CCDS:CCDS7716.1"
/db_xref="GeneID:55367"
/db_xref="HGNC:16491"
/db_xref="MIM:605247"
/translation="
MAATVEGPELEAAAAAGDASEDSDAGSRALPFLGGNRLSLDLYPGGCQQLLHLCVQQPLQLLQVEFLRLSTHEDPQLLEATLAQLPQSLSCLRSLVLKGGQRRDTLGACLRGALTNLPAGLSGLAHLAHLDLSFNSLETLPACVLQMRGLGALLLSHNCLSELPEALGALPALTFLTVTHNRLQTLPPALGALSTLQRLDLSQNLLDTLPPEIGGLGSLLELNLASNRLQSLPASLAGLRSLRLLVLHSNLLASVPADLARLPLLTRLDLRDNQLRDLPPELLDAPFVRLQGNPLGEASPDAPSSPVAALIPEMPRLFLTSDLDSFPVTPQGCSVTLACGVRLQFPAGATATPITIRYRLLLPEPGLVPLGPHDALLSHVLELQPHGVAFQQDVGLWLLFTPPQARRCREVVVRTRNDNSWGDLETYLEEEAPQRLWAHCQVPHFSWFLVVSRPVSNACLVPPEGTLLCSSGHPGVKVIFPPGATEEPRRVSMQVVRMAGRELQALLGEPEAAVSPLLCLSQSGPPSFLQPVTVQLPLPSGITGLSLDRSRLHLLYWAPPAATWDDITAQVVLELTHLYARFQVTHFSWYWLWYTTKNCVGGLARKAWERLRLHRVNLIALQRRRDPEQVLLQCLPRNKVDATLRRLLERYRGPEPSDTVEMFEGEEFFAAFERGIDVDADRPDCVEGRICFVFYSHLKNVKEVYVTTTLDREAQAVRGQVSFYRGAVPVRVPEEAEAARQRKGADALWMATLPIKLPRLRGSEGPRRGAGLSLAPLNLGDAETGFLTQSNLLSVAGRLGLDWPAVALHLGVSYREVQRIRHEFRDDLDEQIRHMLFSWAERQAGQPGAVGLLVQALEQSDRQDVAEEVRAVLELGRRKYQDSIRRMGLAPKDPALPGSSAPQPPEPAQA
"
misc_feature 151..153
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylalanine; propagated from
UniProtKB/Swiss-Prot (Q9HB75.2); acetylation site"
misc_feature 523..588
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 1"
misc_feature 592..660
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 2"
misc_feature 661..729
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 3"
misc_feature 667..834
/gene="PIDD"
/gene_synonym="LRDD"
/note="Leucine rich repeat; Region: LRR_8; pfam13855"
/db_xref="CDD:206026"
misc_feature 730..795
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 4"
misc_feature 799..867
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 5"
misc_feature 868..936
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 6"
misc_feature 937..1002
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: LRR 7"
misc_feature 1042..1044
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9HB75.2); phosphorylation site"
misc_feature 1060..1062
/gene="PIDD"
/gene_synonym="LRDD"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9HB75.2); phosphorylation site"
misc_feature 1408..1509
/gene="PIDD"
/gene_synonym="LRDD"
/note="Peptidase S68; Region: Peptidase_S68; pfam10461"
/db_xref="CDD:118981"
misc_feature 1540..>1758
/gene="PIDD"
/gene_synonym="LRDD"
/note="ZU5 domain; Region: ZU5; cl02517"
/db_xref="CDD:194336"
misc_feature 1885..2295
/gene="PIDD"
/gene_synonym="LRDD"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9HB75.2);
Region: UPA domain (By similarity)"
misc_feature 2509..2766
/gene="PIDD"
/gene_synonym="LRDD"
/note="Death Domain of p53-induced protein with a death
domain; Region: Death_PIDD; cd08779"
/db_xref="CDD:176757"
misc_feature order(2533..2538,2542..2544,2548..2550,2623..2634,
2641..2643)
/gene="PIDD"
/gene_synonym="LRDD"
/note="Type III interaction site; other site"
/db_xref="CDD:176757"
misc_feature order(2548..2550,2560..2562,2569..2577,2584..2589,
2608..2610,2722..2724,2728..2739,2746..2748)
/gene="PIDD"
/gene_synonym="LRDD"
/note="PIDD-RAIDD interaction site [polypeptide binding];
other site"
/db_xref="CDD:176757"
misc_feature order(2548..2550,2560..2562,2569..2574,2584..2589,
2608..2610,2722..2727)
/gene="PIDD"
/gene_synonym="LRDD"
/note="Type I interaction site; other site"
/db_xref="CDD:176757"
misc_feature order(2728..2739,2746..2748)
/gene="PIDD"
/gene_synonym="LRDD"
/note="Type II interaction site; other site"
/db_xref="CDD:176757"
variation 324
/gene="PIDD"
/gene_synonym="LRDD"
/replace="g"
/replace="t"
/db_xref="dbSNP:7104785"
exon 443..856
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 857..1066
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 1067..1121
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 1122..1323
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 1324..1449
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 1450..1629
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 1630..1777
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 1778..1913
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
variation 1806
/gene="PIDD"
/gene_synonym="LRDD"
/replace="c"
/replace="t"
/db_xref="dbSNP:11539604"
exon 1914..2064
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 2065..2188
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
variation 2175
/gene="PIDD"
/gene_synonym="LRDD"
/replace="c"
/replace="t"
/db_xref="dbSNP:7111855"
exon 2189..2307
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 2308..2421
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
exon 2422..2621
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
variation 2557
/gene="PIDD"
/gene_synonym="LRDD"
/replace="c"
/replace="t"
/db_xref="dbSNP:7112652"
exon 2622..3008
/gene="PIDD"
/gene_synonym="LRDD"
/inference="alignment:Splign:1.39.8"
STS 2885..2985
/gene="PIDD"
/gene_synonym="LRDD"
/standard_name="SGC30389"
/db_xref="UniSTS:82645"
polyA_site 3003
/gene="PIDD"
/gene_synonym="LRDD"
polyA_site 3008
/gene="PIDD"
/gene_synonym="LRDD"
ORIGIN
aacgcgccggcgggatcccaggcgccgagcgcccgctgagcagccaccctttgcgcgccgcctgcagcgcagcttccccgggcgctgcctggacaggcctgcctgcgtgctgggacatgtctggcctccaaggaccgtcggtgggcgatggctgcaacggtggaggggccagagctggaggcagctgctgccgcaggagatgcttcagaggattcggacgcagggtccagggcgctgcctttcctgggcggcaaccggctgagcttggacctgtaccccgggggctgccagcagctgctgcacctgtgtgtccagcagcctctgcagctgctgcaggtggaattcttgcgtctgagcactcacgaggaccctcagctgctggaggccaccctggcccagctgcctcagagcctgtcctgcctccgctccctggtcctcaaaggagggcaacgccgggacacactgggtgcctgtctccggggtgccctgaccaacctgcccgctggtctgagtggcctggcccatctggcccacctggacctgagcttcaacagcctggagacactgccggcctgtgtcctgcagatgcgaggtctgggtgcgctcttgctgtctcacaactgcctctctgagctgcctgaggctctgggggccctccccgccctcaccttcctcacagtgacacacaaccgcctgcagacgctgcccccagcactgggggccctatccaccctgcagcgcctcgatctctctcagaatctgctggacacgctacctcctgagattggaggcctgggcagcctcctggagctcaacctggcctccaaccggctgcagagcctcccagcctctctggcgggacttcggtccttgcggctccttgtcctgcacagcaacctcctggcctctgtgccagctgacttggcccgccttccactcctcacccggctcgacctgagggacaaccagctccgggacctgccccctgagctgctagacgccccctttgtgcgcctgcaggggaaccccctgggtgaggcctcgccagacgccccgagttcaccagtggcagccctcattccagaaatgcccagactgttcctgacctcagatttggacagctttcctgtgacccctcaaggctgctcagtgaccctggcctgtggcgtccgcctgcagttcccagcgggagccaccgccacccccatcaccatccgctatcggctgctgctgccggagccaggcctcgtccccctgggtcctcatgacgccctgctcagccatgtgctggagctgcagccccatggggtggccttccagcaggatgtggggctgtggctgctcttcaccccaccgcaggcccggcgctgccgtgaagtggtggtcaggacccggaatgacaacagctggggtgacctggagacctacctggaggaagaggcaccccagcggctctgggctcactgccaggtgccccacttctcctggttccttgtggtttcccgccctgtgtccaatgcctgcctggtgccaccggaggggacactgctgtgctcctcgggtcatcctggggtcaaagtcatcttcccccctggggccactgaggagcctcgtcgagtctccatgcaggtggtgcgcatggctggccgagagctgcaggccctcctgggagaaccagaggctgcagtgagccccctgctgtgcctgtcacagagcggtccccccagcttcctccaaccggtcaccgtgcagctgcctctgccctctggcatcacaggcctcagtctggaccgctcccgcctgcacctgttgtactgggcccctcctgcagccacctgggatgacatcacagctcaggtggtcctggagctcacccacctgtacgcacgcttccaggtcacacacttctcctggtactggctctggtacaccaccaagaactgtgtgggaggcctggctcggaaggcctgggagcggctgcggctgcaccgtgtgaacctcatcgctctgcagcggcgccgggaccctgagcaggtcctgctgcagtgcctgccccgaaacaaggtggacgccacccttcggcggctgctggagcggtaccggggccccgagccctctgacacggtggagatgttcgagggcgaagagttctttgcggccttcgagcgcggcatcgacgtggatgctgaccgccctgactgtgtggagggcagaatctgctttgtcttctactcgcacctgaagaatgtgaaggaggtatacgtgaccaccactctggaccgggaggctcaggctgtgcggggccaggtgtccttctaccgtggcgcggtgcctgtgcgggtgcccgaggaggctgaggctgcccggcagaggaagggcgcagacgccctgtggatggccactctgcccatcaagctgccgagacttcgagggtccgaggggccacggcggggggctggcctctccttggcacccttgaatctgggagatgccgagaccggctttctgacgcagagcaacctgctgagtgtggctgggcgtctgggtctggactggccagccgtggccctgcacctgggggtgtcctaccgggaggtgcagcgcatccggcacgagttccgggatgatctggatgagcagatccgtcacatgctcttctcctgggctgagcgccaggctgggcagccaggggctgtggggctcctggtgcaggccctggagcagagtgaccggcaggacgtggctgaagaggtgcgcgcagtcttggagctcggccgccgcaagtaccaggacagcatccgacgcatgggcttggcccccaaggaccccgctctgcctggctcctcggctccacagcccccagagcctgcccaggcctaggccccacagacttttaggctggcccagatattccccagtggatgggcagagcccccaccttcaagtctctccagtgtgtggggacgggtccctgtgagcaacaaaactgcactgtttctttcacctcaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55367 -> Molecular function: GO:0005123 [death receptor binding] evidence: TAS
GeneID:55367 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:55367 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:55367 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: IDA
GeneID:55367 -> Biological process: GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] evidence: IMP
GeneID:55367 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:55367 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
GeneID:55367 -> Cellular component: GO:0005634 [nucleus] evidence: IMP
GeneID:55367 -> Cellular component: GO:0005737 [cytoplasm] evidence: IMP
by
@meso_cacase at
DBCLS
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