PIDD1 (p53-induced death domain protein 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55367
Gene name P53-induced death domain protein 1
Gene symbol PIDD1
Synonyms (NCBI Gene)
LRDDMRT75PIDD
Chromosome 11
Chromosome location 11p15.5
Summary 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-c
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 17159900
GO:0005123 Function Death receptor binding TAS 10825539
GO:0005515 Function Protein binding IPI 15073321, 16189514, 16652156, 17159900, 19060904, 27773430, 32296183
GO:0005634 Component Nucleus IDA 17159900
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605247 16491 ENSG00000177595
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HB75
Protein name p53-induced death domain-containing protein 1 (EC 3.4.21.-) (Leucine-rich repeat and death domain-containing protein) [Cleaved into: PIDD-N; PIDD-C; PIDD-CC]
Protein function Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis (PubMed:10973264, PubMed:15073321, PubMed:16360037, PubMed:17159900). Associated with CRADD and the CASP2
PDB 2OF5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 125 → 183 Leucine rich repeat Repeat
PF13855 LRR_8 171 → 229 Leucine rich repeat Repeat
PF13855 LRR_8 194 → 252 Leucine rich repeat Repeat
PF13855 LRR_8 218 → 275 Leucine rich repeat Repeat
PF00791 ZU5 323 → 417 ZU5 domain Family
PF10461 Peptidase_S68 421 → 453 Peptidase S68 Family
PF00791 ZU5 456 → 545 ZU5 domain Family
PF00531 Death 790 → 873 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10825539}.
Sequence 
MAATVEGPELEAAAAAGDASEDSDAGSRALPFLGGNRLSLDLYPGGCQQLLHLCVQQPLQ
LLQVEFLRLSTHEDPQLLEATLAQLPQSLSCLRSLVLKGGQRRDTLGACLRGALTNLPAG
LSGLAHLAHLDLSFNSLETLPACVLQMRGLGALLLSHNCLSELPEALGALPALTFLTVTH
NRLQTLPPALGALSTLQRLDLSQNLLDTLPPEIGGLGSLLELNLASNRLQSLPASLAGLR
SLRLLVLHSNLLASVPADLARLPLLTRLDLRDNQLRDLPPELLDAPFVRLQGNPLGEASP
DAPSSPVAALIPEMPRLFLTSDLDSFPVTPQGCSVTLACGVRLQFPAGATATPITIRYRL
LLPEPGLVPLGPHDALLSHVLELQPHGVAFQQDVGLWLLFTPPQARRCREVVVRTRNDNS
WGDLETYLEEEAPQRLWAHCQVPHFSWFLVVSRPVSNACLVPPEGTLLCSSGHPGVKVIF
PPGATEEPRRVSMQVVRMAGRELQALLGEPEAAVSPLLCLSQSGPPSFLQPVTVQLPLPS
GITGLSLDRSRLHLLYWAPPAATWDDITAQVVLELTHLYARFQVTHFSWYWLWYTTKNCV
GGLARKAWERLRLHRVNLIALQRRRDPEQVLLQCLPRNKVDATLRRLLERYRGPEPSDTV
EMFEGEEFFAAFERGIDVDADRPDCVEGRICFVFYSHLKNVKEVYVTTTLDREAQAVRGQ
VSFYRGAVPVRVPEEAEAARQRKGADALWMATLPIKLPRLRGSEGPRRGAGLSLAPLNLG
DAETGFLTQSNLLSVAGRLGLDWPAVALHLGVSYREVQRIRHEFRDDLDEQIRHMLFSWA
ERQAGQPGAVGLLVQALEQSDRQDVAEEVRAVLELGRRKYQDSIRRMGLAPKDPALPGSS
APQPPEPAQA
Sequence length 910
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
C0HMD6
Protein name PIDD1 alternative open reading frame protein (altPIDD1)
Family and domains
Sequence 
MAATVEGPELEAAAAAGDASEDSDAGSRALPFLGGNRLSLDLYPGGCQQLLHLCVQQPLQ
LLQVEFLRLSTHEDPQLLEATLAQLPQSLSCLRSLVLKGGQRRDTLGACLRGALTNLPAG
LSGLAHLAHLDLSFNSLETLPACVLQMRGLGALLLSHNCLSELPEALGALPALTFLTVTH
NRLQTLPPALGALSTLQRLDLSQNLLDTLPPEIGGLGSLLELNLASNRLQSLPASLAGLR
SLRLLVLHSNLLASVPADLARLPLLTRLDLRDNQLRDLPPELLDAPFVRLQGNPLGEASP
DAPSSPVAALIPEMPRLFLTSDLDSFPVTPQGCSVTLACGVRLQFPAGATATPITIRYRL
LLPEPGLVPLGPHDALLSHVLELQPHGVAFQQDVGLWLLFTPPQARRCREVVVRTRNDNS
WGDLETYLEEEAPQRLWAHCQVPHFSWFLVVSRPVSNACLVPPEGTLLCSSGHPGVKVIF
PPGATEEPRRVSMQVVRMAGRELQALLGEPEAAVSPLLCLSQSGPPSFLQPVTVQLPLPS
GITGLSLDRSRLHLLYWAPPAATWDDITAQVVLELTHLYARFQVTHFSWYWLWYTTKNCV
GGLARKAWERLRLHRVNLIALQRRRDPEQVLLQCLPRNKVDATLRRLLERYRGPEPSDTV
EMFEGEEFFAAFERGIDVDADRPDCVEGRICFVFYSHLKNVKEVYVTTTLDREAQAVRGQ
VSFYRGAVPVRVPEEAEAARQRKGADALWMATLPIKLPRLRGSEGPRRGAGLSLAPLNLG
DAETGFLTQSNLLSVAGRLGLDWPAVALHLGVSYREVQRIRHEFRDDLDEQIRHMLFSWA
ERQAGQPGAVGLLVQALEQSDRQDVAEEVRAVLELGRRKYQDSIRRMGLAPKDPALPGSS
APQPPEPAQA
Sequence length 910
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  NF-kappa B signaling pathway
p53 signaling pathway
Apoptosis 		  TP53 Regulates Transcription of Caspase Activators and Caspases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Pathogenic rs2133753509 RCV005930071
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly Pathogenic; Likely pathogenic rs2133753509, rs758859772, rs747620551, rs2133759109, rs2133768184, rs578222814, rs1479635413, rs1224174574 RCV002248356
RCV002248357
RCV002248358
RCV002248359
RCV002248360
RCV003128102
RCV004594868
RCV002249778
Intellectual disability Pathogenic rs1224174574 RCV001195079
Show/Hide Unknown Diseases (15)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs113521642 RCV005922727
Cholangiocarcinoma Benign rs113521642 RCV005922735
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs199752248 RCV005922643
Developmental and epileptic encephalopathy, 3 Conflicting classifications of pathogenicity rs200290640 RCV004731534
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 26846109
Carcinoma Non Small Cell Lung Associate 31455821
Developmental Disabilities Associate 34163010
Hydrocephalus Associate 40603987
Intellectual Disability Associate 34163010
Lissencephaly Associate 34163010, 37880421
Melanoma Associate 20587415
Mental Disorders Associate 34163010
Neoplasms Associate 33350495
Osteitis Deformans Associate 25115182