PIDD1 - p53-induced death domain protein 1 Gene

Homo sapiens

Also known as LRDD; PIDD; MRT75

Gene ID: 55367 | Gene type: protein coding

About PIDD1

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:799,184-809,501 (from NCBI)

This gene has 11 transcripts (splice variants), 116 orthologues, 31 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.7), spleen (RPKM 3.6) and 25 other tissues.

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-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell Apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent Apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

PIDD1 Products(2)

mRNA	Protein	Name
NM_145886.4	NP_665893.2	p53-induced death domain-containing protein 1 isoform 1
NM_145887.4	NP_665894.2	p53-induced death domain-containing protein 1 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables endopeptidase activity	IDA IDA: Inferred from direct assay	17159900	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15073321	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	21726810	GOA
involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP IMP: Inferred from mutant phenotype	21726810	GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA IDA: Inferred from direct assay	17159900	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	17159900	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	21726810	GOA
involved in protein autoprocessing	IDA IDA: Inferred from direct assay	17159900	GOA
involved in regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	17159900	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17159900	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	21726810	GOA
part of endopeptidase complex	IPI IPI: Inferred from physical interaction	15073321	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17159900	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	21726810	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIDD1 Protein Structure

LRR_8

LRR_1

ZU5

Peptidase_S68

ZU5

Death

0
200
400
600
800
910 a.a.

Protein Preferred Names

Protein Names

p53-induced death domain-containing protein 1

leucine-rich repeat and death domain-containing protein

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly

MRT75

Megalencephaly

Macroencephaly

Macrencephaly

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10481	PIDD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PIDD1	VGNC	VGNC:81498
Rattus norvegicus	PIDD1	RGD	RGD:1311792
Mus musculus	PIDD1	MGD	MGI:1889507
Canis familiaris	PIDD1	VGNC	VGNC:44527
Bos taurus	PIDD1	VGNC	VGNC:32863
Felis catus	PIDD1	VGNC	VGNC:81960

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