PIDD1 (p53-induced death domain protein 1)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55367
Gene name Gene Name - the full gene name approved by the HGNC.
P53-induced death domain protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIDD1
Synonyms (NCBI Gene) Gene synonyms aliases
LRDD, MRT75, PIDD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT75
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IBA 21873635
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
GO:0005634 Component Nucleus IDA 17159900
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605247 16491 ENSG00000177595
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 C0HMD6
Protein name PIDD1 alternative open reading frame protein (altPIDD1)
Family and domains
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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 29059683
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 20208132
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney rs121913668, rs121913670, rs121913243, rs786202724 20208132
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 20208132 ClinVar
Lissencephaly intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly GenCC
Keratoconus Keratoconus GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (10)
Associations from Text Mining
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