Human Gene PIDD1 (ENST00000347755.10_11) from GENCODE V47lift37
  Description: p53-induced death domain protein 1, transcript variant 1 (from RefSeq NM_145886.4)
Gencode Transcript: ENST00000347755.10_11
Gencode Gene: ENSG00000177595.19_13
Transcript (Including UTRs)
   Position: hg19 chr11:799,184-805,231 Size: 6,048 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr11:799,307-804,388 Size: 5,082 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:799,184-805,231)mRNA (may differ from genome)Protein (910 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PIDD_HUMAN
DESCRIPTION: RecName: Full=p53-induced protein with a death domain; AltName: Full=Leucine-rich repeat and death domain-containing protein;
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.
SUBUNIT: 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.
INTERACTION: P78560:CRADD; NbExp=6; IntAct=EBI-520427, EBI-520375; Q99750:MDFI; NbExp=3; IntAct=EBI-520427, EBI-724076; P78527:PRKDC; NbExp=6; IntAct=EBI-520427, EBI-352053;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Ubiquitous.
INDUCTION: Induced by gamma-irradiation.
SIMILARITY: Contains 1 death domain.
SIMILARITY: Contains 7 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 peptidase S68 domain.
SIMILARITY: Contains 2 ZU5 domains.
SEQUENCE CAUTION: Sequence=BAD92069.1; Type=Erroneous initiation; Sequence=BAD92186.1; Type=Erroneous initiation; Sequence=BAD92766.1; Type=Erroneous initiation; Sequence=CAD38708.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PIDD1
Diseases sorted by gene-association score: poikiloderma with neutropenia (2)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.04 RPKM in Brain - Cerebellum
Total median expression: 445.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.10128-0.423 Picture PostScript Text
3' UTR -34.80123-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000488 - Death
IPR011029 - DEATH-like
IPR001611 - Leu-rich_rpt
IPR003591 - Leu-rich_rpt_typical-subtyp
IPR019502 - Peptidase_S68_pidd
IPR000906 - ZU5

Pfam Domains:
PF00531 - Death domain
PF00791 - ZU5 domain
PF10461 - Peptidase S68
PF13855 - Leucine rich repeat

SCOP Domains:
47986 - DEATH domain
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
53067 - Actin-like ATPase domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2OF5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9HB75
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005123 death receptor binding
GO:0005515 protein binding

Biological Process:
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0007165 signal transduction
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:2001235 positive regulation of apoptotic signaling pathway
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF465246 - Homo sapiens unknown mRNA.
HH837078 - Sequence 5 from Patent EP2231168.
HI214719 - Sequence 5 from Patent EP2076526.
HV601521 - JP 2011500003-A/5: Novel siRNA Structures.
HV708912 - JP 2012506450-A/10: Methods for treating eye disorders.
HV856594 - JP 2010507387-A/5: Novel siRNAs and Methods of Use Thereof.
HW061132 - JP 2012529430-A/7: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165081 - JP 2013102767-A/5: Novel siRNA's and Use Thereof.
HW675589 - JP 2014210789-A/5: Novel siRNA Structures.
HW835277 - JP 2015051004-A/5: Novel siRNA's and Use Thereof.
JA482090 - Sequence 73 from Patent WO2011072091.
JA538120 - Sequence 5 from Patent EP2371958.
JB251940 - Sequence 7 from Patent EP2440214.
JE980382 - Sequence 73 from Patent EP2862929.
LP764839 - Sequence 7 from Patent EP3276004.
HH837076 - Sequence 3 from Patent EP2231168.
HH837077 - Sequence 4 from Patent EP2231168.
HI214717 - Sequence 3 from Patent EP2076526.
HI214718 - Sequence 4 from Patent EP2076526.
HV601519 - JP 2011500003-A/3: Novel siRNA Structures.
HV601520 - JP 2011500003-A/4: Novel siRNA Structures.
HV708910 - JP 2012506450-A/8: Methods for treating eye disorders.
HV708911 - JP 2012506450-A/9: Methods for treating eye disorders.
HV856592 - JP 2010507387-A/3: Novel siRNAs and Methods of Use Thereof.
HV856593 - JP 2010507387-A/4: Novel siRNAs and Methods of Use Thereof.
HW061130 - JP 2012529430-A/5: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061131 - JP 2012529430-A/6: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165079 - JP 2013102767-A/3: Novel siRNA's and Use Thereof.
HW165080 - JP 2013102767-A/4: Novel siRNA's and Use Thereof.
HW675587 - JP 2014210789-A/3: Novel siRNA Structures.
HW675588 - JP 2014210789-A/4: Novel siRNA Structures.
HW835275 - JP 2015051004-A/3: Novel siRNA's and Use Thereof.
HW835276 - JP 2015051004-A/4: Novel siRNA's and Use Thereof.
JA482088 - Sequence 71 from Patent WO2011072091.
JA482089 - Sequence 72 from Patent WO2011072091.
JA538118 - Sequence 3 from Patent EP2371958.
JA538119 - Sequence 4 from Patent EP2371958.
JB251938 - Sequence 5 from Patent EP2440214.
JB251939 - Sequence 6 from Patent EP2440214.
JE980380 - Sequence 71 from Patent EP2862929.
JE980381 - Sequence 72 from Patent EP2862929.
LP764837 - Sequence 5 from Patent EP3276004.
LP764838 - Sequence 6 from Patent EP3276004.
AF229178 - Homo sapiens leucine rich repeat and death domain containing protein (LRDD) mRNA, complete cds.
AB209529 - Homo sapiens mRNA for leucine rich repeat and death domain containing protein isoform 1 variant protein.
JD162179 - Sequence 143203 from Patent EP1572962.
AL833849 - Homo sapiens mRNA; cDNA DKFZp434D229 (from clone DKFZp434D229).
BC014904 - Homo sapiens leucine-rich repeats and death domain containing, mRNA (cDNA clone MGC:16925 IMAGE:3908102), complete cds.
AK074893 - Homo sapiens cDNA FLJ90412 fis, clone NT2RP3000059, weakly similar to ANKYRIN, BRAIN VARIANT 2.
AB208949 - Homo sapiens mRNA for Hypothetical protein DKFZp434D229 variant protein.
AB208832 - Homo sapiens mRNA for Hypothetical protein DKFZp434D229 variant protein.
JD123389 - Sequence 104413 from Patent EP1572962.
JD443150 - Sequence 424174 from Patent EP1572962.
JD103964 - Sequence 84988 from Patent EP1572962.
JD098048 - Sequence 79072 from Patent EP1572962.
JD123172 - Sequence 104196 from Patent EP1572962.
AF274972 - Homo sapiens PIDD (PIDD) mRNA, complete cds, alternatively spliced.
EU176211 - Synthetic construct Homo sapiens clone IMAGE:100006460; FLH185967.01X; RZPDo839G05250D leucine-rich repeats and death domain containing (LRDD) gene, encodes complete protein.
JD444719 - Sequence 425743 from Patent EP1572962.
JD493823 - Sequence 474847 from Patent EP1572962.
JD322605 - Sequence 303629 from Patent EP1572962.
JD547990 - Sequence 529014 from Patent EP1572962.
JD459867 - Sequence 440891 from Patent EP1572962.
JD393187 - Sequence 374211 from Patent EP1572962.
JD055468 - Sequence 36492 from Patent EP1572962.
JD246622 - Sequence 227646 from Patent EP1572962.
JD101442 - Sequence 82466 from Patent EP1572962.
JD260304 - Sequence 241328 from Patent EP1572962.
JD479712 - Sequence 460736 from Patent EP1572962.
JD139475 - Sequence 120499 from Patent EP1572962.
JD339186 - Sequence 320210 from Patent EP1572962.
JD196502 - Sequence 177526 from Patent EP1572962.
JD157690 - Sequence 138714 from Patent EP1572962.
JD140817 - Sequence 121841 from Patent EP1572962.
JD408523 - Sequence 389547 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HB75 (Reactome details) participates in the following event(s):

R-HSA-6800794 PIDD1 associates with CRADD
R-HSA-6800793 PIDD1 translocates to the cytosol
R-HSA-6800490 ATM phosphorylates PIDD1
R-HSA-6800798 The PIDDosome binds CASP2
R-HSA-6800797 The PIDDosome activates CASP2
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000347755.1, ENST00000347755.2, ENST00000347755.3, ENST00000347755.4, ENST00000347755.5, ENST00000347755.6, ENST00000347755.7, ENST00000347755.8, ENST00000347755.9, LRDD , NM_145886, PIDD , PIDD1 , PIDD1_HUMAN, Q59FD1, Q59H10, Q59HC7, Q7Z4P8, Q8NC89, Q8NDL2, Q96C25, Q9HB75, Q9NRE6, uc317xon.1, uc317xon.2
UCSC ID: ENST00000347755.10_11
RefSeq Accession: NM_145886.4
Protein: Q9HB75 (aka PIDD_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.