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PIDD1 p53-induced death domain protein 1 [ Homo sapiens (human) ]

Gene ID: 55367, updated on 15-Apr-2019

Summary

Official Symbol
PIDD1provided by HGNC
Official Full Name
p53-induced death domain protein 1provided by HGNC
Primary source
HGNC:HGNC:16491
See related
Ensembl:ENSG00000177595 MIM:605247
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRDD; PIDD
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]
Expression
Ubiquitous expression in testis (RPKM 3.7), spleen (RPKM 3.6) and 25 other tissues See more
Orthologs

Genomic context

See PIDD1 in Genome Data Viewer
Location:
11p15.5
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (799179..809867, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (799179..809872, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cell cycle exit and neuronal differentiation 1 Neighboring gene solute carrier family 25 member 22 Neighboring gene proapoptotic nucleolar protein 1 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52 Neighboring gene patatin like phospholipase domain containing 2 Neighboring gene calcium release activated channel regulator 2B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • ATM Signaling Pathway, organism-specific biosystem (from WikiPathways)
    ATM Signaling Pathway, organism-specific biosystemAtaxia-telangiectasia (A-T) is a highly pleiotropic, autosomal recessive disease that leads to multisystem defects and has an intricate cellular phenotype, all linked to the functional inactivation o...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • DNA Damage Response, organism-specific biosystem (from WikiPathways)
    DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
    NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • NF-kappa B signaling pathway, conserved biosystem (from KEGG)
    NF-kappa B signaling pathway, conserved biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
  • TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystemTP53 (p53) transcriptionally regulates cytosolic caspase activators, such as APAF1, PIDD1, and NLRC4, and caspases themselves, such as CASP1, CASP6 and CASP10. These caspases and their activators are...
  • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
    miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...
  • p53 signaling pathway, organism-specific biosystem (from KEGG)
    p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
  • p53 signaling pathway, conserved biosystem (from KEGG)
    p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC16925, DKFZp434D229

Gene Ontology Provided by GOA

Function Evidence Code Pubs
death receptor binding TAS
Traceable Author Statement
more info
PubMed 
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
volume-sensitive anion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
ion channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
p53-induced death domain-containing protein 1
Names
leucine-rich repeat and death domain-containing protein
leucine-rich repeats and death domain containing
p53-induced protein with a death domain

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_145886.4NP_665893.2  p53-induced death domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_665893.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF274972, BQ214414, BX349115, CN427946
    Consensus CDS
    CCDS7716.1
    UniProtKB/Swiss-Prot
    Q9HB75
    Related
    ENSP00000337797.5, ENST00000347755.10
    Conserved Domains (6) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:788873
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl02517
    Location:325398
    ZU5; ZU5 domain
  2. NM_145887.3NP_665894.2  p53-induced death domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_665894.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    BC014904, BQ059356, BQ214414, BX349115, CN427946
    Consensus CDS
    CCDS44508.1
    UniProtKB/Swiss-Prot
    Q9HB75
    Related
    ENSP00000416801.2, ENST00000411829.6
    Conserved Domains (7) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:771856
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl00467
    Location:666856
    Ntn_hydrolase; The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a ...
    cl02517
    Location:325398
    ZU5; ZU5 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    799179..809867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253007.4XP_005253064.1  p53-induced death domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005253064.1

    Conserved Domains (6) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:812897
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl02517
    Location:325398
    ZU5; ZU5 domain
  2. XM_011520212.2XP_011518514.1  p53-induced death domain-containing protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011518514.1

    Conserved Domains (6) summary
    cd08779
    Location:666751
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:726
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:275307
    Peptidase_S68; Peptidase S68
    pfam12799
    Location:95134
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:48106
    LRR_8; Leucine rich repeat
    cl02517
    Location:179252
    ZU5; ZU5 domain
  3. XM_005253006.5XP_005253063.1  p53-induced death domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005253063.1

    Conserved Domains (6) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:812897
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl02517
    Location:325398
    ZU5; ZU5 domain
  4. XM_011520211.3XP_011518513.1  p53-induced death domain-containing protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011518513.1

    UniProtKB/Swiss-Prot
    Q9HB75
    Conserved Domains (7) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:771856
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl00467
    Location:666856
    Ntn_hydrolase; The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a ...
    cl02517
    Location:325398
    ZU5; ZU5 domain
  5. XM_011520210.3XP_011518512.1  p53-induced death domain-containing protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011518512.1

    UniProtKB/Swiss-Prot
    Q9HB75
    Conserved Domains (6) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:788873
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl02517
    Location:325398
    ZU5; ZU5 domain
  6. XM_005253005.5XP_005253062.1  p53-induced death domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005253062.1

    Conserved Domains (6) summary
    cd00116
    Location:117279
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:812897
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:127152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:421453
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:194252
    LRR_8; Leucine rich repeat
    cl02517
    Location:325398
    ZU5; ZU5 domain
  7. XM_005253008.5XP_005253065.1  p53-induced death domain-containing protein 1 isoform X5

    See identical proteins and their annotated locations for XP_005253065.1

    Conserved Domains (6) summary
    cd08779
    Location:666751
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:726
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:275307
    Peptidase_S68; Peptidase S68
    pfam12799
    Location:95134
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:48106
    LRR_8; Leucine rich repeat
    cl02517
    Location:179252
    ZU5; ZU5 domain
  8. XM_011520209.3XP_011518511.1  p53-induced death domain-containing protein 1 isoform X2

    Conserved Domains (7) summary
    cd00116
    Location:144306
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08779
    Location:798883
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    sd00033
    Location:154179
    LRR_RI; leucine-rich repeat [structural motif]
    pfam10461
    Location:448480
    Peptidase_S68; Peptidase S68
    pfam13855
    Location:221279
    LRR_8; Leucine rich repeat
    cl00467
    Location:693883
    Ntn_hydrolase; The Ntn hydrolases (N-terminal nucleophile) are a diverse superfamily of of enzymes that are activated autocatalytically via an N-terminally lcated nucleophilic amino acid. N-terminal nucleophile (NTN-) hydrolase superfamily, which contains a ...
    cl02517
    Location:352425
    ZU5; ZU5 domain
  9. XM_011520213.2XP_011518515.1  p53-induced death domain-containing protein 1 isoform X6

    Conserved Domains (3) summary
    cd08779
    Location:499584
    Death_PIDD; Death Domain of p53-induced protein with a death domain
    pfam10461
    Location:108140
    Peptidase_S68; Peptidase S68
    cl02517
    Location:1285
    ZU5; ZU5 domain
  10. XM_017017993.2XP_016873482.1  p53-induced death domain-containing protein 1 isoform X7

    UniProtKB/Swiss-Prot
    Q9HB75

RNA

  1. XR_001747921.1 RNA Sequence

  2. XR_001747922.2 RNA Sequence

  3. XR_930877.1 RNA Sequence

    Related
    ENST00000525028.6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018494.3: Suppressed sequence

    Description
    NM_018494.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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