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Aliases for PIDD1 Gene

Aliases for PIDD1 Gene

  • P53-Induced Death Domain Protein 1 2 3 5
  • Leucine-Rich Repeat And Death Domain-Containing Protein 3 4
  • Leucine-Rich Repeats And Death Domain Containing 2 3
  • LRDD 3 4
  • PIDD 3 4
  • P53-Induced Death Domain-Containing Protein 1 3
  • P53-Induced Protein With A Death Domain 3
  • P53-Induced Death Domain Protein 2

External Ids for PIDD1 Gene

Previous HGNC Symbols for PIDD1 Gene

  • LRDD
  • PIDD

Summaries for PIDD1 Gene

Entrez Gene Summary for PIDD1 Gene

  • 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]

GeneCards Summary for PIDD1 Gene

PIDD1 (P53-Induced Death Domain Protein 1) is a Protein Coding gene. Diseases associated with PIDD1 include Poikiloderma With Neutropenia. Among its related pathways are DNA Damage Response and Apoptosis and survival Caspase cascade. GO annotations related to this gene include death receptor binding. An important paralog of this gene is LRCH4.

UniProtKB/Swiss-Prot for PIDD1 Gene

  • Promotes apoptosis downstream of the tumor suppressor as component of the DNA damage/stress response pathway that connects p53/TP53 to apoptosis. Associates with NEMO/IKBKG and RIP1 and enhances sumoylation and ubiquitination of NEMO/IKBKG which is important for activation of the transcription factor NF-kappa-B. Associates with CASP2/caspase-2 and CRADD/RAIDD, and induces activation of CASP2 which an important regulator in apoptotic pathways.

Gene Wiki entry for PIDD1 Gene

Additional gene information for PIDD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIDD1 Gene

Genomics for PIDD1 Gene

Regulatory Elements for PIDD1 Gene

Enhancers for PIDD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H000839 1.3 ENCODE dbSUPER 33.8 -34.0 -34028 7.6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207 CD151 TMEM80 PIDD1 SNORA52 RPLP2 TSPAN4 RIC8A ENSG00000255158 BET1L ENSG00000255237
GH11H001770 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.7 -962.2 -962196 3.8 HDGF PKNOX1 ATF1 ARNT SIN3A ZBTB7B GATA2 FOS ATF7 MCM3 TSPAN4 SNORA52 PIDD1 IFITM10 TNNI2 ENSG00000255142 SYT8 KRTAP5-6 LOC100505570 FAM99B
GH11H000311 1.6 FANTOM5 ENCODE dbSUPER 24.8 +494.9 494885 7 HDGF PKNOX1 ARNT SIN3A ARID4B YY1 ETS1 ZNF766 GLIS2 ZNF207 TMEM80 ENSG00000254910 IFITM3 PGGHG PIDD1 PHRF1 IFITM2 BET1L RIC8A SNORA52
GH11H000807 1.4 ENCODE dbSUPER 26.7 -1.2 -1235 6.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RPLP2 ENSG00000255108 TMEM80 PIDD1 ENSG00000255158 PHRF1 ENSG00000255142 MOB2 RIC8A BET1L
GH11H000324 1.6 Ensembl ENCODE dbSUPER 19.2 +481.8 481751 8 HDGF PKNOX1 ARNT YY1 ZNF766 CBX5 ZNF143 FOS SP3 NFYC ENSG00000270030 LOC105376505 TMEM80 ENSG00000251661 PIDD1 TSPAN4 ENSG00000270972 SNORA52 RIC8A PHRF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIDD1 on UCSC Golden Path with GeneCards custom track

Promoters for PIDD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035694 -147 2201 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Locations for PIDD1 Gene

Genomic Locations for PIDD1 Gene
chr11:799,179-809,753
(GRCh38/hg38)
Size:
10,575 bases
Orientation:
Minus strand
chr11:799,179-809,753
(GRCh37/hg19)

Genomic View for PIDD1 Gene

Genes around PIDD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIDD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIDD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIDD1 Gene

Proteins for PIDD1 Gene

  • Protein details for PIDD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB75-PIDD1_HUMAN
    Recommended name:
    p53-induced death domain-containing protein 1
    Protein Accession:
    Q9HB75
    Secondary Accessions:
    • Q59FD1
    • Q59H10
    • Q59HC7
    • Q7Z4P8
    • Q8NC89
    • Q8NDL2
    • Q96C25
    • Q9NRE6

    Protein attributes for PIDD1 Gene

    Size:
    910 amino acids
    Molecular mass:
    99712 Da
    Quaternary structure:
    • Interacts with FADD and MAP-kinase activating death domain/MADD. Forms a complex with IKBKG and with receptor-interacting serine-threonine kinase 1/RIP1. Forms also a complex named PIDDosome with CASP2 and CRADD.
    SequenceCaution:
    • Sequence=BAD92069.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92186.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92766.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD38708.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PIDD1 Gene

    Alternative splice isoforms for PIDD1 Gene

neXtProt entry for PIDD1 Gene

Post-translational modifications for PIDD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PIDD1 Gene

Domains & Families for PIDD1 Gene

Gene Families for PIDD1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PIDD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PIDD1: view

No data available for UniProtKB/Swiss-Prot for PIDD1 Gene

Function for PIDD1 Gene

Molecular function for PIDD1 Gene

UniProtKB/Swiss-Prot Function:
Promotes apoptosis downstream of the tumor suppressor as component of the DNA damage/stress response pathway that connects p53/TP53 to apoptosis. Associates with NEMO/IKBKG and RIP1 and enhances sumoylation and ubiquitination of NEMO/IKBKG which is important for activation of the transcription factor NF-kappa-B. Associates with CASP2/caspase-2 and CRADD/RAIDD, and induces activation of CASP2 which an important regulator in apoptotic pathways.
UniProtKB/Swiss-Prot Induction:
Induced by gamma-irradiation.

Phenotypes From GWAS Catalog for PIDD1 Gene

Gene Ontology (GO) - Molecular Function for PIDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005123 death receptor binding TAS 10825539
GO:0005515 protein binding IPI 15073321
genes like me logo Genes that share ontologies with PIDD1: view
genes like me logo Genes that share phenotypes with PIDD1: view

Animal Models for PIDD1 Gene

MGI Knock Outs for PIDD1:

Animal Model Products

miRNA for PIDD1 Gene

miRTarBase miRNAs that target PIDD1

Clone Products

  • Addgene plasmids for PIDD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIDD1 Gene

Localization for PIDD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIDD1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIDD1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 21726810
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IMP 21726810
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PIDD1: view

Pathways & Interactions for PIDD1 Gene

genes like me logo Genes that share pathways with PIDD1: view

Gene Ontology (GO) - Biological Process for PIDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 21726810
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP 21726810
GO:0007165 signal transduction TAS 10825539
genes like me logo Genes that share ontologies with PIDD1: view

No data available for SIGNOR curated interactions for PIDD1 Gene

Drugs & Compounds for PIDD1 Gene

No Compound Related Data Available

Transcripts for PIDD1 Gene

Clone Products

  • Addgene plasmids for PIDD1

Alternative Splicing Database (ASD) splice patterns (SP) for PIDD1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1: - - - -
SP2: - - -
SP3: - - -
SP4:
SP5: - -
SP6: - -
SP7: -
SP8:
SP9:
SP10:

ExUns: 14b ^ 15 ^ 16a · 16b · 16c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PIDD1 Gene

GeneLoc Exon Structure for
PIDD1
ECgene alternative splicing isoforms for
PIDD1

Expression for PIDD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIDD1 Gene

Protein differential expression in normal tissues from HIPED for PIDD1 Gene

This gene is overexpressed in Rectum (33.2), Prostate (15.1), Peripheral blood mononuclear cells (11.3), and Platelet (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PIDD1 Gene



Protein tissue co-expression partners for PIDD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PIDD1 Gene:

PIDD1

mRNA Expression by UniProt/SwissProt for PIDD1 Gene:

Q9HB75-PIDD1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PIDD1 Gene

  • Nervous system(4.4)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with PIDD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIDD1 Gene

Orthologs for PIDD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIDD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRDD 33
  • 98.79 (n)
cow
(Bos Taurus)
Mammalia PIDD 33 34
  • 83.15 (n)
dog
(Canis familiaris)
Mammalia PIDD 33 34
  • 81.68 (n)
mouse
(Mus musculus)
Mammalia Lrdd 33 34
  • 81.3 (n)
Pidd1 16
rat
(Rattus norvegicus)
Mammalia LOC100911519 33
  • 80.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PIDD 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIDD 33 34
  • 62.43 (n)
lizard
(Anolis carolinensis)
Reptilia PIDD 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pidd 33
  • 56 (n)
zebrafish
(Danio rerio)
Actinopterygii pidd 33 34
  • 54.96 (n)
Species where no ortholog for PIDD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PIDD1 Gene

ENSEMBL:
Gene Tree for PIDD1 (if available)
TreeFam:
Gene Tree for PIDD1 (if available)

Paralogs for PIDD1 Gene

Paralogs for PIDD1 Gene

genes like me logo Genes that share paralogs with PIDD1: view

Variants for PIDD1 Gene

Sequence variations from dbSNP and Humsavar for PIDD1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000118985 -- 811,147(+) AGTCT(A/G)ACAGA intron-variant, upstream-variant-2KB
rs1000200751 -- 804,906(+) TAAGG(A/G)TGAGG intron-variant, upstream-variant-2KB
rs1000267176 -- 809,693(+) CTTTG(A/G)ACTCG upstream-variant-2KB
rs1000272107 -- 811,007(+) CTCCA(A/C)AAAAA intron-variant, upstream-variant-2KB
rs1000334289 -- 804,929(+) AGCCA(C/T)TGGGC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PIDD1 Gene

Variant ID Type Subtype PubMed ID
nsv951272 CNV deletion 24416366
nsv8759 CNV gain 18304495
nsv552871 CNV loss 21841781
nsv552870 CNV loss 21841781
nsv469923 CNV loss 18288195
nsv1159791 CNV deletion 26073780
nsv1040044 CNV gain+loss 25217958
esv2759794 CNV loss 17122850
dgv182e199 CNV deletion 23128226
dgv1013n100 CNV gain 25217958

Variation tolerance for PIDD1 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.01; 84.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIDD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIDD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIDD1 Gene

Disorders for PIDD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIDD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
poikiloderma with neutropenia
  • clericuzio type poikiloderma with neutropenia
- elite association - COSMIC cancer census association via MalaCards
Search PIDD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PIDD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIDD1
genes like me logo Genes that share disorders with PIDD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIDD1 Gene

Publications for PIDD1 Gene

  1. Functional connection between p53 and caspase-2 is essential for apoptosis induced by DNA damage. (PMID: 16652156) Vakifahmetoglu H … Zhivotovsky B (Oncogene 2006) 3 4 22 60
  2. PIDD mediates NF-kappaB activation in response to DNA damage. (PMID: 16360037) Janssens S … Tschopp J (Cell 2005) 3 4 22 60
  3. LRDD, a novel leucine rich repeat and death domain containing protein. (PMID: 10825539) Telliez JB … Lin LL (Biochimica et biophysica acta 2000) 2 3 4 60
  4. p53-induced protein with a death domain (PIDD) isoforms differentially activate nuclear factor-kappaB and caspase-2 in response to genotoxic stress. (PMID: 17637755) Cuenin S … Tschopp J (Oncogene 2008) 3 22 60
  5. Upon intracellular processing, the C-terminal death domain-containing fragment of the p53-inducible PIDD/LRDD protein translocates to the nucleoli and interacts with nucleolin. (PMID: 16982033) Pick R … Zörnig M (Biochemical and biophysical research communications 2006) 3 22 60

Products for PIDD1 Gene

  • Addgene plasmids for PIDD1

Sources for PIDD1 Gene

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