PIDD1 (p53-induced death domain protein 1)

2014-05-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
LRDD,PIDD

Other Information

Locus ID:

NCBI: 55367
MIM: 605247
HGNC: 16491
Ensembl: ENSG00000177595

Variants:

dbSNP: 55367
ClinVar: 55367
TCGA: ENSG00000177595
COSMIC: PIDD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177595ENST00000347755Q9HB75
ENSG00000177595ENST00000411829Q9HB75
ENSG00000177595ENST00000524486E9PPT6
ENSG00000177595ENST00000525028E9PPT6
ENSG00000177595ENST00000531286H0YE55

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
p53 signaling pathwayKEGGko04115
ApoptosisKEGGko04210
p53 signaling pathwayKEGGhsa04115
ApoptosisKEGGhsa04210
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Transcription of Cell Death GenesREACTOMER-HSA-5633008
TP53 Regulates Transcription of Caspase Activators and CaspasesREACTOMER-HSA-6803207

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
366898112023Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD.0
375304382023Extra centrosomes induce PIDD1-mediated inflammation and immunosurveillance.6
366898112023Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD.0
375304382023Extra centrosomes induce PIDD1-mediated inflammation and immunosurveillance.6
334143792021Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.8
341630102021Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.5
334143792021Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.8
341630102021Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.5
321941672020ATR signalling mediates the prosurvival function of phospho-NPM against PIDDosome mediated cell death.1
321941672020ATR signalling mediates the prosurvival function of phospho-NPM against PIDDosome mediated cell death.1
314558212019PIDD interaction with KEAP1 as a new mutation-independent mechanism to promote NRF2 stabilization and chemoresistance in NSCLC.9
315827332019Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder.13
314558212019PIDD interaction with KEAP1 as a new mutation-independent mechanism to promote NRF2 stabilization and chemoresistance in NSCLC.9
315827332019Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder.13
284320802017NPM1 directs PIDDosome-dependent caspase-2 activation in the nucleolus.37

Citation

Dessen P

PIDD1 (p53-induced death domain protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-05-01

Online version: http://atlasgeneticsoncology.org/gene/52253/new-content/tumors-explorer/