LOCUS       NM_145886               2984 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens p53-induced death domain protein 1 (PIDD1), transcript
            variant 1, mRNA.
ACCESSION   NM_145886
VERSION     NM_145886.4
KEYWORDS    RefSeq; MANE Select.
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 2984)
  AUTHORS   Comtois,F., Jacques,J.F., Metayer,L., Ouedraogo,W.Y.D.,
            Ouangraoua,A., Denault,J.B. and Roucou,X.
  TITLE     Noncanonical altPIDD1 protein: unveiling the true major
            translational output of the PIDD1 gene
  JOURNAL   Life Sci Alliance 8 (2), e202402910 (2024)
   PUBMED   39532532
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2984)
  AUTHORS   Garcia-Carpio,I., Braun,V.Z., Weiler,E.S., Leone,M., Ninerola,S.,
            Barco,A., Fava,L.L. and Villunger,A.
  TITLE     Extra centrosomes induce PIDD1-mediated inflammation and
            immunosurveillance
  JOURNAL   EMBO J 42 (20), e113510 (2023)
   PUBMED   37530438
  REMARK    GeneRIF: Extra centrosomes induce PIDD1-mediated inflammation and
            immunosurveillance.
REFERENCE   3  (bases 1 to 2984)
  AUTHORS   Ha,H.J. and Park,H.H.
  TITLE     Molecular basis of neurodevelopmental disorders caused by
            pathogenic variants of PIDD
  JOURNAL   Biochem Biophys Res Commun 645, 147-153 (2023)
   PUBMED   36689811
  REMARK    GeneRIF: Molecular basis of neurodevelopmental disorders caused by
            pathogenic variants of PIDD.
REFERENCE   4  (bases 1 to 2984)
  AUTHORS   Zaki,M.S., Accogli,A., Mirzaa,G., Rahman,F., Mohammed,H.,
            Porras-Hurtado,G.L., Efthymiou,S., Maqbool,S., Shukla,A.,
            Vincent,J.B., Hussain,A., Mir,A., Beetz,C., Leubauer,A.,
            Houlden,H., Gleeson,J.G. and Maroofian,R.
  TITLE     Pathogenic variants in PIDD1 lead to an autosomal recessive
            neurodevelopmental disorder with pachygyria and psychiatric
            features
  JOURNAL   Eur J Hum Genet 29 (8), 1226-1234 (2021)
   PUBMED   34163010
  REMARK    GeneRIF: Pathogenic variants in PIDD1 lead to an autosomal
            recessive neurodevelopmental disorder with pachygyria and
            psychiatric features.
REFERENCE   5  (bases 1 to 2984)
  AUTHORS   Sheikh,T.I., Vasli,N., Pastore,S., Kharizi,K., Harripaul,R.,
            Fattahi,Z., Pande,S., Naeem,F., Hussain,A., Mir,A., Islam,O.,
            Girisha,K.M., Irfan,M., Ayub,M., Schwarzer,C., Najmabadi,H.,
            Shukla,A., Sladky,V.C., Braun,V.Z., Garcia-Carpio,I., Villunger,A.
            and Vincent,J.B.
  TITLE     Biallelic mutations in the death domain of PIDD1 impair caspase-2
            activation and are associated with intellectual disability
  JOURNAL   Transl Psychiatry 11 (1), 1 (2021)
   PUBMED   33414379
  REMARK    GeneRIF: Biallelic mutations in the death domain of PIDD1 impair
            caspase-2 activation and are associated with intellectual
            disability.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2984)
  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 2984)
  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 2984)
  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 2984)
  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 2984)
  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 AF274972.1, CN427946.1,
            BX349115.2 and BQ214414.1.
            
            On Nov 22, 2018 this sequence version replaced NM_145886.3.
            
            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, SRR14038195.694096.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347755.10/ ENSP00000337797.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-304               AF274972.1         16-319
            305-305             CN427946.1         323-323
            306-1119            AF274972.1         321-1134
            1120-1179           BX349115.2         492-551
            1180-2885           AF274972.1         1195-2900
            2886-2984           BQ214414.1         363-461
FEATURES             Location/Qualifiers
     source          1..2984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2984
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /note="p53-induced death domain protein 1"
                     /db_xref="GeneID:55367"
                     /db_xref="HGNC:HGNC:16491"
                     /db_xref="MIM:605247"
     exon            1..53
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            54..423
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..2861
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /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; p53-induced death
                     domain-containing protein 1"
                     /codon_start=1
                     /product="p53-induced death domain-containing protein 1
                     isoform 1"
                     /protein_id="NP_665893.2"
                     /db_xref="CCDS:CCDS7716.1"
                     /db_xref="GeneID:55367"
                     /db_xref="HGNC:HGNC:16491"
                     /db_xref="MIM:605247"
                     /translation="MAATVEGPELEAAAAAGDASEDSDAGSRALPFLGGNRLSLDLYP
                     GGCQQLLHLCVQQPLQLLQVEFLRLSTHEDPQLLEATLAQLPQSLSCLRSLVLKGGQR
                     RDTLGACLRGALTNLPAGLSGLAHLAHLDLSFNSLETLPACVLQMRGLGALLLSHNCL
                     SELPEALGALPALTFLTVTHNRLQTLPPALGALSTLQRLDLSQNLLDTLPPEIGGLGS
                     LLELNLASNRLQSLPASLAGLRSLRLLVLHSNLLASVPADLARLPLLTRLDLRDNQLR
                     DLPPELLDAPFVRLQGNPLGEASPDAPSSPVAALIPEMPRLFLTSDLDSFPVTPQGCS
                     VTLACGVRLQFPAGATATPITIRYRLLLPEPGLVPLGPHDALLSHVLELQPHGVAFQQ
                     DVGLWLLFTPPQARRCREVVVRTRNDNSWGDLETYLEEEAPQRLWAHCQVPHFSWFLV
                     VSRPVSNACLVPPEGTLLCSSGHPGVKVIFPPGATEEPRRVSMQVVRMAGRELQALLG
                     EPEAAVSPLLCLSQSGPPSFLQPVTVQLPLPSGITGLSLDRSRLHLLYWAPPAATWDD
                     ITAQVVLELTHLYARFQVTHFSWYWLWYTTKNCVGGLARKAWERLRLHRVNLIALQRR
                     RDPEQVLLQCLPRNKVDATLRRLLERYRGPEPSDTVEMFEGEEFFAAFERGIDVDADR
                     PDCVEGRICFVFYSHLKNVKEVYVTTTLDREAQAVRGQVSFYRGAVPVRVPEEAEAAR
                     QRKGADALWMATLPIKLPRLRGSEGPRRGAGLSLAPLNLGDAETGFLTQSNLLSVAGR
                     LGLDWPAVALHLGVSYREVQRIRHEFRDDLDEQIRHMLFSWAERQAGQPGAVGLLVQA
                     LEQSDRQDVAEEVRAVLELGRRKYQDSIRRMGLAPKDPALPGSSAPQPPEPAQA"
     exon            424..837
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            838..1047
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1102
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1304
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1430
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1610
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1758
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1759..1894
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            1895..2045
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2169
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2170..2288
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..2402
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2403..2602
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     exon            2603..2984
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2961..2966
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /note="hexamer: AACAAA"
     polyA_site      2984
                     /gene="PIDD1"
                     /gene_synonym="LRDD; MRT75; PIDD"
                     /note="major polyA site"
ORIGIN      
        1 aggcgccgag cgcccgctga gcagccaccc tttgcgcgcc gcctgcagcg cagcttcccc
       61 gggcgctgcc tggacaggcc tgcctgcgtg ctgggacatg tctggcctcc aaggaccgtc
      121 ggtgggcgat ggctgcaacg gtggaggggc cagagctgga ggcagctgct gccgcaggag
      181 atgcttcaga ggattcggac gcagggtcca gggcgctgcc tttcctgggc ggcaaccggc
      241 tgagcttgga cctgtacccc gggggctgcc agcagctgct gcacctgtgt gtccagcagc
      301 ctctgcagct gctgcaggtg gaattcttgc gtctgagcac tcacgaggac cctcagctgc
      361 tggaggccac cctggcccag ctgcctcaga gcctgtcctg cctccgctcc ctggtcctca
      421 aaggagggca acgccgggac acactgggtg cctgtctccg gggtgccctg accaacctgc
      481 ccgctggtct gagtggcctg gcccatctgg cccacctgga cctgagcttc aacagcctgg
      541 agacactgcc ggcctgtgtc ctgcagatgc gaggtctggg tgcgctcttg ctgtctcaca
      601 actgcctctc tgagctgcct gaggctctgg gggccctccc cgccctcacc ttcctcacag
      661 tgacacacaa ccgcctgcag acgctgcccc cagcactggg ggccctatcc accctgcagc
      721 gcctcgatct ctctcagaat ctgctggaca cgctacctcc tgagattgga ggcctgggca
      781 gcctcctgga gctcaacctg gcctccaacc ggctgcagag cctcccagcc tctctggcgg
      841 gacttcggtc cttgcggctc cttgtcctgc acagcaacct cctggcctct gtgccagctg
      901 acttggcccg ccttccactc ctcacccggc tcgacctgag ggacaaccag ctccgggacc
      961 tgccccctga gctgctagac gccccctttg tgcgcctgca ggggaacccc ctgggtgagg
     1021 cctcgccaga cgccccgagt tcaccagtgg cagccctcat tccagaaatg cccagactgt
     1081 tcctgacctc agatttggac agctttcctg tgacccctca aggctgctca gtgaccctgg
     1141 cctgtggcgt ccgcctgcag ttcccagcgg gagccaccgc cacccccatc accatccgct
     1201 atcggctgct gctgccggag ccaggcctcg tccccctggg tcctcatgac gccctgctca
     1261 gccatgtgct ggagctgcag ccccatgggg tggccttcca gcaggatgtg gggctgtggc
     1321 tgctcttcac cccaccgcag gcccggcgct gccgtgaagt ggtggtcagg acccggaatg
     1381 acaacagctg gggtgacctg gagacctacc tggaggaaga ggcaccccag cggctctggg
     1441 ctcactgcca ggtgccccac ttctcctggt tccttgtggt ttcccgccct gtgtccaatg
     1501 cctgcctggt gccaccggag gggacactgc tgtgctcctc gggtcatcct ggggtcaaag
     1561 tcatcttccc ccctggggcc actgaggagc ctcgtcgagt ctccatgcag gtggtgcgca
     1621 tggctggccg agagctgcag gccctcctgg gagaaccaga ggctgcagtg agccccctgc
     1681 tgtgcctgtc acagagcggt ccccccagct tcctccaacc ggtcaccgtg cagctgcctc
     1741 tgccctctgg catcacaggc ctcagtctgg accgctcccg cctgcacctg ttgtactggg
     1801 cccctcctgc agccacctgg gatgacatca cagctcaggt ggtcctggag ctcacccacc
     1861 tgtacgcacg cttccaggtc acacacttct cctggtactg gctctggtac accaccaaga
     1921 actgtgtggg aggcctggct cggaaggcct gggagcggct gcggctgcac cgtgtgaacc
     1981 tcatcgctct gcagcggcgc cgggaccctg agcaggtcct gctgcagtgc ctgccccgaa
     2041 acaaggtgga cgccaccctt cggcggctgc tggagcggta ccggggcccc gagccctctg
     2101 acacggtgga gatgttcgag ggcgaagagt tctttgcggc cttcgagcgc ggcatcgacg
     2161 tggatgctga ccgccctgac tgtgtggagg gcagaatctg ctttgtcttc tactcgcacc
     2221 tgaagaatgt gaaggaggta tacgtgacca ccactctgga ccgggaggct caggctgtgc
     2281 ggggccaggt gtccttctac cgtggcgcgg tgcctgtgcg ggtgcccgag gaggctgagg
     2341 ctgcccggca gaggaagggc gcagacgccc tgtggatggc cactctgccc atcaagctgc
     2401 cgagacttcg agggtccgag gggccacggc ggggggctgg cctctccttg gcacccttga
     2461 atctgggaga tgccgagacc ggctttctga cgcagagcaa cctgctgagt gtggctgggc
     2521 gtctgggtct ggactggcca gccgtggccc tgcacctggg ggtgtcctac cgggaggtgc
     2581 agcgcatccg gcacgagttc cgggatgatc tggatgagca gatccgtcac atgctcttct
     2641 cctgggctga gcgccaggct gggcagccag gggctgtggg gctcctggtg caggccctgg
     2701 agcagagtga ccggcaggac gtggctgaag aggtgcgcgc agtcttggag ctcggccgcc
     2761 gcaagtacca ggacagcatc cgacgcatgg gcttggcccc caaggacccc gctctgcctg
     2821 gctcctcggc tccacagccc ccagagcctg cccaggccta ggccccacag acttttaggc
     2881 tggcccagat attccccagt ggatgggcag agcccccacc ttcaagtctc tccagtgtgt
     2941 ggggacgggt ccctgtgagc aacaaaactg cactgtttct ttca
//
