Pidd1 p53 induced death domain protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pidd1provided by MGI
Official Full Name: p53 induced death domain protein 1provided by MGI
Primary source: MGI:MGI:1889507
See related: Ensembl:ENSMUSG00000025507 AllianceGenome:MGI:1889507
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lrdd; Pidd; 1200011D09Rik
Summary: Predicted to enable endopeptidase activity. Acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process and extrinsic apoptotic signaling pathway via death domain receptors. Located in cytoplasm. Is expressed in brain; liver; nose; and urinary system. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 75. Orthologous to human PIDD1 (p53-induced death domain protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in thymus adult (RPKM 13.9), liver E14.5 (RPKM 6.5) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 86.79 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (141018026..141027477, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (141438113..141447565, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Title: Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
NPM1-dependent nucleolar PIDDosome is a key initiator of the caspase-2 activation cascade.
Title: NPM1 directs PIDDosome-dependent caspase-2 activation in the nucleolus.
PIDD acts as a critical switcher between the NF-kappabeta transcription pathway and radiation-induced apoptosis
Title: PIDD Mediates Radiation-Induced Microglia Activation.
The tumor-modulatory effects of Caspase-2 and Pidd1 do not require the scaffold protein Raidd
Title: The tumor-modulatory effects of Caspase-2 and Pidd1 do not require the scaffold protein Raidd.
Loss of PIDD leads to an impaired inflammatory response after DNA damage.
Title: Loss of PIDD limits NF-κB activation and cytokine production but not cell survival or transformation after DNA damage.
Caspase 2 activity can be induced in neurons from PIDD-null mice, and NGF deprivation or Abeta use caspase 2 and RAIDD to execute death of these neurons.
Title: Neuronal caspase 2 activity and function requires RAIDD, but not PIDD.
PIDD does not play an essential role for all p53-mediated or p53-independent apoptotic pathways.
Title: DNA damage- and stress-induced apoptosis occurs independently of PIDD.
Results suggest that at least one alternative PIDDosome-independent mechanism of caspase-2 activation exists in mammals in response to DNA damage.
Title: Caspase-2 activation in the absence of PIDDosome formation.
P450 levels were higher in female DES-treated p53+/- mice compared to treated wild type mice.
Title: Mechanisms of hormonal carcinogenesis in the p53+/- hemizygous knockout mouse: studies with diethylstilbestrol.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	ISO Inferred from Sequence Orthology more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within extrinsic apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in protein autoprocessing	IEA Inferred from Electronic Annotation more info
involved_in protein autoprocessing	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of endopeptidase complex	ISO Inferred from Sequence Orthology more info
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: p53-induced death domain-containing protein 1

Names: leucine-rich and death domain containing; leucine-rich repeat and death domain-containing protein; p53 protein induced, with death domain; p53-induced protein with a death domain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001360523.1 → NP_001347452.1 p53-induced death domain-containing protein 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (a).

Source sequence(s)

AC158224, BC145314

Related

ENSMUST00000131980.8

Conserved Domains (3) summary

cd08779
Location:475 → 560

Death_PIDD; Death Domain of p53-induced protein with a death domain

pfam10461
Location:108 → 140

Peptidase_S68; Peptidase S68

cl02517
Location:12 → 85

ZU5; ZU5 domain
NM_001360524.1 → NP_001347453.1 p53-induced death domain-containing protein 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform (a).

Source sequence(s)

AC158224, BC089373

Related

ENSMUST00000147268.8

Conserved Domains (3) summary

cd08779
Location:475 → 560

Death_PIDD; Death Domain of p53-induced protein with a death domain

pfam10461
Location:108 → 140

Peptidase_S68; Peptidase S68

cl02517
Location:12 → 85

ZU5; ZU5 domain
NM_022654.2 → NP_073145.1 p53-induced death domain-containing protein 1 isoform a

See identical proteins and their annotated locations for NP_073145.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC158224

Consensus CDS

CCDS22014.1

UniProtKB/Swiss-Prot

A6H6F4, Q9ERV7

Related

ENSMUSP00000026580.6, ENSMUST00000026580.12

Conserved Domains (6) summary

cd00116
Location:132 → 295

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:132 → 154

LRR_RI; leucine-rich repeat [structural motif]

pfam10461
Location:426 → 458

Peptidase_S68; Peptidase S68

pfam13855
Location:222 → 280

LRR_8; Leucine rich repeat

cl02517
Location:330 → 403

ZU5; ZU5 domain

cl14633
Location:793 → 878

DD; Death Domain Superfamily of protein-protein interaction domains

RNA

NR_153591.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC158224

Related

ENSMUST00000128703.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

141018026..141027477 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153304.1 → XP_036009197.1 p53-induced death domain-containing protein 1 isoform X2

Conserved Domains (3) summary

cd08779
Location:475 → 560

Death_PIDD; Death Domain of p53-induced protein with a death domain

pfam10461
Location:108 → 140

Peptidase_S68; Peptidase S68

cl02517
Location:12 → 85

ZU5; ZU5 domain
XM_011249849.4 → XP_011248151.1 p53-induced death domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_011248151.1

Conserved Domains (4) summary

COG4886
Location:126 → 285

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:132 → 154

LRR_RI; leucine-rich repeat [structural motif]

pfam10461
Location:426 → 458

Peptidase_S68; Peptidase S68

cl02517
Location:330 → 403

ZU5; ZU5 domain