PIDD1 | ENSG00000177595 | NCBI 55367

Details for: PIDD1

Gene ID: 55367

Symbol: PIDD1

Ensembl ID: ENSG00000177595

Description: p53-induced death domain protein 1

Associated with

Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Rna polymerase ii transcription
(R-HSA-73857)
Tp53 regulates transcription of caspase activators and caspases
(R-HSA-6803207)
Tp53 regulates transcription of cell death genes
(R-HSA-5633008)
Transcriptional regulation by tp53
(R-HSA-3700989)
Activation of cysteine-type endopeptidase activity involved in apoptotic process
(GO:0006919)
Apoptotic process
(GO:0006915)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Death receptor binding
(GO:0005123)
Dna damage response
(GO:0006974)
Dna damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
(GO:0006977)
Endopeptidase activity
(GO:0004175)
Endopeptidase complex
(GO:1905369)
Extrinsic apoptotic signaling pathway via death domain receptors
(GO:0008625)
Golgi apparatus
(GO:0005794)
Negative regulation of apoptotic process
(GO:0043066)
Nucleolus
(GO:0005730)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Positive regulation of apoptotic process
(GO:0043065)
Positive regulation of nf-kappab transcription factor activity
(GO:0051092)
Protein autoprocessing
(GO:0016540)
Protein binding
(GO:0005515)
Regulation of canonical nf-kappab signal transduction
(GO:0043122)
Signal transduction
(GO:0007165)

Other Information

Proteins

Leucine-rich repeat and death domain-containing protein

Genular Protein ID: 1876593686

Symbol: PIDD1_HUMAN

Name: Leucine-rich repeat and death domain-containing protein

UniProtKB Accession Codes:

Q9HB75 Q59FD1 Q59H10 Q59HC7 Q7Z4P8 Q8NC89 Q8NDL2 Q96C25 Q9NRE6

Database IDs:

Citations:

PubMed ID: 10825539

Title: LRDD, a novel leucine rich repeat and death domain containing protein.

PubMed ID: 10825539

DOI: 10.1016/s0167-4838(00)00029-7

PubMed ID: 10973264

Title: Pidd, a new death-domain-containing protein, is induced by p53 and promotes apoptosis.

PubMed ID: 10973264

DOI: 10.1038/79102

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15073321

Title: The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress.

PubMed ID: 15073321

DOI: 10.1126/science.1095432

PubMed ID: 16360037

Title: PIDD mediates NF-kappaB activation in response to DNA damage.

PubMed ID: 16360037

DOI: 10.1016/j.cell.2005.09.036

PubMed ID: 16652156

Title: Functional connection between p53 and caspase-2 is essential for apoptosis induced by DNA damage.

PubMed ID: 16652156

DOI: 10.1038/sj.onc.1209569

PubMed ID: 17159900

Title: Autoproteolysis of PIDD marks the bifurcation between pro-death caspase-2 and pro-survival NF-kappaB pathway.

PubMed ID: 17159900

DOI: 10.1038/sj.emboj.7601473

PubMed ID: 17289572

Title: Death domain assembly mechanism revealed by crystal structure of the oligomeric PIDDosome core complex.

PubMed ID: 17289572

DOI: 10.1016/j.cell.2007.01.019

PubMed ID: 28397838

Title: Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

PubMed ID: 28397838

DOI: 10.1038/mp.2017.60

PubMed ID: 29302074

Title: Genetics of intellectual disability in consanguineous families.

PubMed ID: 29302074

DOI: 10.1038/s41380-017-0012-2

PubMed ID: 34163010

Title: Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.

PubMed ID: 34163010

DOI: 10.1038/s41431-021-00910-0

PubMed ID: 33414379

Title: Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.

PubMed ID: 33414379

DOI: 10.1038/s41398-020-01158-w

Sequence Information:

Length: 910
Mass: 99712
Checksum: 8C98FC64230B57F8
Sequence:

MAATVEGPEL EAAAAAGDAS EDSDAGSRAL PFLGGNRLSL DLYPGGCQQL LHLCVQQPLQ 
LLQVEFLRLS THEDPQLLEA TLAQLPQSLS CLRSLVLKGG QRRDTLGACL RGALTNLPAG 
LSGLAHLAHL DLSFNSLETL PACVLQMRGL GALLLSHNCL SELPEALGAL PALTFLTVTH 
NRLQTLPPAL GALSTLQRLD LSQNLLDTLP PEIGGLGSLL ELNLASNRLQ SLPASLAGLR 
SLRLLVLHSN LLASVPADLA RLPLLTRLDL RDNQLRDLPP ELLDAPFVRL QGNPLGEASP 
DAPSSPVAAL IPEMPRLFLT SDLDSFPVTP QGCSVTLACG VRLQFPAGAT ATPITIRYRL 
LLPEPGLVPL GPHDALLSHV LELQPHGVAF QQDVGLWLLF TPPQARRCRE VVVRTRNDNS 
WGDLETYLEE EAPQRLWAHC QVPHFSWFLV VSRPVSNACL VPPEGTLLCS SGHPGVKVIF 
PPGATEEPRR VSMQVVRMAG RELQALLGEP EAAVSPLLCL SQSGPPSFLQ PVTVQLPLPS 
GITGLSLDRS RLHLLYWAPP AATWDDITAQ VVLELTHLYA RFQVTHFSWY WLWYTTKNCV 
GGLARKAWER LRLHRVNLIA LQRRRDPEQV LLQCLPRNKV DATLRRLLER YRGPEPSDTV 
EMFEGEEFFA AFERGIDVDA DRPDCVEGRI CFVFYSHLKN VKEVYVTTTL DREAQAVRGQ 
VSFYRGAVPV RVPEEAEAAR QRKGADALWM ATLPIKLPRL RGSEGPRRGA GLSLAPLNLG 
DAETGFLTQS NLLSVAGRLG LDWPAVALHL GVSYREVQRI RHEFRDDLDE QIRHMLFSWA 
ERQAGQPGAV GLLVQALEQS DRQDVAEEVR AVLELGRRKY QDSIRRMGLA PKDPALPGSS 
APQPPEPAQA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PIDD1

Associated with

Other Information

LRDD, a novel leucine rich repeat and death domain containing protein. PubMed ID: 10825539

Pidd, a new death-domain-containing protein, is induced by p53 and promotes apoptosis. PubMed ID: 10973264

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress. PubMed ID: 15073321

PIDD mediates NF-kappaB activation in response to DNA damage. PubMed ID: 16360037

Functional connection between p53 and caspase-2 is essential for apoptosis induced by DNA damage. PubMed ID: 16652156

Autoproteolysis of PIDD marks the bifurcation between pro-death caspase-2 and pro-survival NF-kappaB pathway. PubMed ID: 17159900

Death domain assembly mechanism revealed by crystal structure of the oligomeric PIDDosome core complex. PubMed ID: 17289572

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. PubMed ID: 28397838

Genetics of intellectual disability in consanguineous families. PubMed ID: 29302074

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features. PubMed ID: 34163010

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. PubMed ID: 33414379