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Protein

p53-induced death domain-containing protein 1

Gene

PIDD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:17159900). Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B (PubMed:16360037, PubMed:17159900).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei444PROSITE-ProRule annotation1 Publication1
Active sitei446PROSITE-ProRule annotation1 Publication1
Active sitei586PROSITE-ProRule annotation1 Publication1
Active sitei588PROSITE-ProRule annotation1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • death receptor binding Source: ProtInc
  • endopeptidase activity Source: UniProtKB
  • volume-sensitive anion channel activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processApoptosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9HB75

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S68.001

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
p53-induced death domain-containing protein 1Curated (EC:3.4.21.-1 Publication)
Alternative name(s):
Leucine-rich repeat and death domain-containing protein
Cleaved into the following 3 chains:
PIDD-N1 Publication
PIDD-C1 Publication
PIDD-CC1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PIDD11 PublicationImported
Synonyms:LRDD1 Publication, PIDD1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000177595.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16491 PIDD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605247 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HB75

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi444H → Q: Loss of the proteolytic cleavage producing PIDD-C. 1 Publication1
Mutagenesisi445F → H or W: Loss of the proteolytic cleavage producing PIDD-C. 1 Publication1
Mutagenesisi446S → A: Loss of the proteolytic cleavage producing PIDD-C. Unable to translocate to the nucleus upon DNA damage. No effect on the ability to activate CASP2. Complete loss of proteolytic cleavage; when associated with A-588. 1 Publication1
Mutagenesisi446S → C: No effect on the proteolytic cleavage producing PIDD-C. 1 Publication1
Mutagenesisi582F → A: Loss of the proteolytic cleavage producing PIDD-CC. 1 Publication1
Mutagenesisi587F → H: Loss of the proteolytic cleavage producing PIDD-CC. 1 Publication1
Mutagenesisi588S → A: Loss of the proteolytic cleavage producing PIDD-CC. Loss of interaction with CRADD and of the ability to activate CASP2. No effect on translocation to the nucleus upon DNA damage. Complete loss of proteolytic cleavage; when associated with A-446. 1 Publication1
Mutagenesisi588S → C: No effect on the proteolytic cleavage producing PIDD-CC. 1 Publication1
Mutagenesisi801L → A: No effect on complex assembly with CRADD. 1 Publication1
Mutagenesisi814Y → A: Loss of complex assembly with CRADD. Loss of PIDDosome assembly. Loss of CASP2 activation. 1 Publication1
Mutagenesisi815R → A: Partial loss of complex assembly with CRADD. 1 Publication1
Mutagenesisi815R → E: Loss of complex assembly with CRADD. 1 Publication1
Mutagenesisi825R → A: Partial loss of complex assembly with CRADD. 1 Publication1
Mutagenesisi825R → E: Partial loss of complex assembly with CRADD. Decreased PIDDosome assembly. Decreased CASP2 activation. 1 Publication1
Mutagenesisi826D → K: Partial loss of complex assembly with CRADD. 1 Publication1
Mutagenesisi828L → E: Loss of complex assembly with CRADD. 1 Publication1
Mutagenesisi830E → K: No effect on complex assembly with CRADD. 1 Publication1
Mutagenesisi837F → D: Loss of complex assembly with CRADD. Loss of PIDDosome assembly. Loss of CASP2 activation. 1 Publication1
Mutagenesisi862R → A: Loss of complex assembly with CRADD. Loss of PIDDosome assembly. Loss of CASP2 activation. 1 Publication1
Mutagenesisi863Q → A: Partial loss of complex assembly with CRADD. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55367

Open Targets

More...
OpenTargetsi
ENSG00000177595

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30445

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIDD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242715

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002452432 – 910p53-induced death domain-containing protein 1Add BLAST909
ChainiPRO_00004457152 – 445PIDD-N1 PublicationAdd BLAST444
ChainiPRO_0000445716446 – 910PIDD-C1 PublicationAdd BLAST465
ChainiPRO_0000445717589 – 910PIDD-CC1 PublicationAdd BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanine1 Publication1
Modified residuei299Phosphoserine1 Publication1
Modified residuei305Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Undergoes autoproteolytic processing whose extent either directs cells towards survival or apoptotic pathways (PubMed:17159900). Autoproteolytically cleaved into two main fragments PIDD-N and PIDD-C (PubMed:17159900). PIDD-C can be further processed into PIDD-CC, a processing which is enhanced by DNA damage (PubMed:17159900). The cleavage producing PIDD-C is required for translocation of PIDD1 to the nucleus upon DNA damage and activation of NF-kappa-B (PubMed:17159900). PIDD-CC mediates the interaction with CRADD and the cleavage producing PIDD-CC is required for the activation of CASP2 (PubMed:17159900). PIDD-N remains associated with PIDD-C and PIDD-CC after cleavage (PubMed:17159900).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei445 – 446Cleavage; by autolysis1 Publication2
Sitei587 – 588Cleavage; by autolysis1 Publication2

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9HB75

PeptideAtlas

More...
PeptideAtlasi
Q9HB75

PRoteomics IDEntifications database

More...
PRIDEi
Q9HB75

ProteomicsDB human proteome resource

More...
ProteomicsDBi
81501
81502 [Q9HB75-2]
81503 [Q9HB75-3]
81504 [Q9HB75-4]
81505 [Q9HB75-5]
81506 [Q9HB75-6]
81507 [Q9HB75-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HB75

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9HB75

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in response to DNA damage.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000177595 Expressed in 166 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HB75 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HB75 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB012647
HPA055473

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a complex named the PIDDosome with CASP2 and CRADD (PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572). Forms a complex with IKBKG and RIPK1 (PubMed:16360037). Interacts with FADD and MADD (PubMed:10825539).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120645, 37 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9HB75

Protein interaction database and analysis system

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IntActi
Q9HB75, 14 interactors

Molecular INTeraction database

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MINTi
Q9HB75

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000337797

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1910
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9HB75

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9HB75

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9HB75

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati126 – 147LRR 1Add BLAST22
Repeati149 – 171LRR 2Add BLAST23
Repeati172 – 194LRR 3Add BLAST23
Repeati195 – 216LRR 4Add BLAST22
Repeati218 – 240LRR 5Add BLAST23
Repeati241 – 263LRR 6Add BLAST23
Repeati264 – 285LRR 7Add BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini322 – 454ZU5 1PROSITE-ProRule annotationAdd BLAST133
Domaini455 – 596ZU5 2PROSITE-ProRule annotationAdd BLAST142
Domaini788 – 873DeathPROSITE-ProRule annotationAdd BLAST86

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni423 – 452Peptidase S68PROSITE-ProRule annotationAdd BLAST30
Regioni566 – 594Peptidase S68PROSITE-ProRule annotationAdd BLAST29
Regioni580 – 716UPA domainBy similarityAdd BLAST137

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Death domain mediates the interaction with CRADD and the formation of a complex composed of 5 PIDD1 and 7 CRADD proteins which in turn recruit 7 CASP2 to form the PIDDosome.1 Publication
The LRR repeat-containing domain has a regulatory activity, being autoinhibitory for the activation of NF-kappa-B.1 Publication

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0619 Eukaryota
KOG4177 Eukaryota
COG0666 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161780

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG066762

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HB75

KEGG Orthology (KO)

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KOi
K10130

Identification of Orthologs from Complete Genome Data

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OMAi
LWYTTKT

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01ZE

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HB75

TreeFam database of animal gene trees

More...
TreeFami
TF331183

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR019502 Peptidase_S68_pidd
IPR000906 ZU5_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00531 Death, 1 hit
PF13855 LRR_8, 2 hits
PF10461 Peptidase_S68, 1 hit
PF00791 ZU5, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00005 DEATH, 1 hit
SM00369 LRR_TYP, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47986 SSF47986, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50017 DEATH_DOMAIN, 1 hit
PS51450 LRR, 7 hits
PS51145 ZU5, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HB75-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAATVEGPEL EAAAAAGDAS EDSDAGSRAL PFLGGNRLSL DLYPGGCQQL
60 70 80 90 100
LHLCVQQPLQ LLQVEFLRLS THEDPQLLEA TLAQLPQSLS CLRSLVLKGG
110 120 130 140 150
QRRDTLGACL RGALTNLPAG LSGLAHLAHL DLSFNSLETL PACVLQMRGL
160 170 180 190 200
GALLLSHNCL SELPEALGAL PALTFLTVTH NRLQTLPPAL GALSTLQRLD
210 220 230 240 250
LSQNLLDTLP PEIGGLGSLL ELNLASNRLQ SLPASLAGLR SLRLLVLHSN
260 270 280 290 300
LLASVPADLA RLPLLTRLDL RDNQLRDLPP ELLDAPFVRL QGNPLGEASP
310 320 330 340 350
DAPSSPVAAL IPEMPRLFLT SDLDSFPVTP QGCSVTLACG VRLQFPAGAT
360 370 380 390 400
ATPITIRYRL LLPEPGLVPL GPHDALLSHV LELQPHGVAF QQDVGLWLLF
410 420 430 440 450
TPPQARRCRE VVVRTRNDNS WGDLETYLEE EAPQRLWAHC QVPHFSWFLV
460 470 480 490 500
VSRPVSNACL VPPEGTLLCS SGHPGVKVIF PPGATEEPRR VSMQVVRMAG
510 520 530 540 550
RELQALLGEP EAAVSPLLCL SQSGPPSFLQ PVTVQLPLPS GITGLSLDRS
560 570 580 590 600
RLHLLYWAPP AATWDDITAQ VVLELTHLYA RFQVTHFSWY WLWYTTKNCV
610 620 630 640 650
GGLARKAWER LRLHRVNLIA LQRRRDPEQV LLQCLPRNKV DATLRRLLER
660 670 680 690 700
YRGPEPSDTV EMFEGEEFFA AFERGIDVDA DRPDCVEGRI CFVFYSHLKN
710 720 730 740 750
VKEVYVTTTL DREAQAVRGQ VSFYRGAVPV RVPEEAEAAR QRKGADALWM
760 770 780 790 800
ATLPIKLPRL RGSEGPRRGA GLSLAPLNLG DAETGFLTQS NLLSVAGRLG
810 820 830 840 850
LDWPAVALHL GVSYREVQRI RHEFRDDLDE QIRHMLFSWA ERQAGQPGAV
860 870 880 890 900
GLLVQALEQS DRQDVAEEVR AVLELGRRKY QDSIRRMGLA PKDPALPGSS
910
APQPPEPAQA
Length:910
Mass (Da):99,712
Last modified:October 17, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8C98FC64230B57F8
GO
Isoform 2 (identifier: Q9HB75-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     704-720: Missing.

Show »
Length:893
Mass (Da):97,823
Checksum:i426694FB8EC10235
GO
Isoform 3 (identifier: Q9HB75-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.
     579-589: Missing.

Show »
Length:753
Mass (Da):82,971
Checksum:i6BD2B00A12B574DC
GO
Isoform 4 (identifier: Q9HB75-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-313: Missing.

Show »
Length:597
Mass (Da):66,720
Checksum:i2572BA6345C426AA
GO
Isoform 5 (identifier: Q9HB75-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-313: Missing.
     589-589: W → WSVPPSFLSPPPPVCTALLTPSSPR
     759-815: RLRGSEGPRR...VALHLGVSYR → VGLRDSRGAG...GGGLASPWHP
     816-910: Missing.

Show »
Length:526
Mass (Da):58,652
Checksum:iACB01B6B05784BF1
GO
Isoform 6 (identifier: Q9HB75-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-492: Missing.
     589-589: W → WSVPPSFLSPPPPVCTALLTPSSPR
     704-720: Missing.
     759-815: RLRGSEGPRR...VALHLGVSYR → VGLRDSRGAG...GGGLASPWHP
     816-910: Missing.

Show »
Length:330
Mass (Da):37,019
Checksum:i1A8F34F669B0F38A
GO
Isoform 7 (identifier: Q9HB75-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-313: Missing.
     585-621: THFSWYWLWYTTKNCVGGLARKAWERLRLHRVNLIAL → LALVHHQELCGRPGSEGLGAAAAAPCEPHRSAAAPGP
     622-910: Missing.

Show »
Length:308
Mass (Da):33,375
Checksum:i5E814E02D2E0E4CB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YE55H0YE55_HUMAN
p53-induced death domain-containing...
PIDD1
338Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPT6E9PPT6_HUMAN
p53-induced death domain-containing...
PIDD1
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD92069 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD92186 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD92766 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD38708 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti335V → A in BAC11272 (PubMed:14702039).Curated1
Sequence conflicti421W → L in AAP97716 (Ref. 3) Curated1
Sequence conflicti492S → F in BAC11272 (PubMed:14702039).Curated1
Sequence conflicti512A → V in CAD38708 (PubMed:17974005).Curated1
Sequence conflicti601G → E in CAD38708 (PubMed:17974005).Curated1
Sequence conflicti895A → V in AAF69491 (PubMed:10825539).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_028031331Q → R7 PublicationsCorresponds to variant dbSNP:rs10902221Ensembl.1
Natural variantiVAR_080765863 – 910Missing Probable disease-associated mutation found in two unrelated families with intellectual disability. 1 PublicationAdd BLAST48

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0196641 – 492Missing in isoform 6. 1 PublicationAdd BLAST492
Alternative sequenceiVSP_0196651 – 313Missing in isoform 4, isoform 5 and isoform 7. 4 PublicationsAdd BLAST313
Alternative sequenceiVSP_0196661 – 146Missing in isoform 3. 1 PublicationAdd BLAST146
Alternative sequenceiVSP_019667579 – 589Missing in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_019668585 – 621THFSW…NLIAL → LALVHHQELCGRPGSEGLGA AAAAPCEPHRSAAAPGP in isoform 7. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_019669589W → WSVPPSFLSPPPPVCTALLT PSSPR in isoform 5 and isoform 6. 2 Publications1
Alternative sequenceiVSP_019670622 – 910Missing in isoform 7. 1 PublicationAdd BLAST289
Alternative sequenceiVSP_019671704 – 720Missing in isoform 2 and isoform 6. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_019672759 – 815RLRGS…GVSYR → VGLRDSRGAGQDRGPGVTRV TWWSWGWSPGLNALFPSNRD FEGPRGHGGGLASPWHP in isoform 5 and isoform 6. 2 PublicationsAdd BLAST57
Alternative sequenceiVSP_019673816 – 910Missing in isoform 5 and isoform 6. 2 PublicationsAdd BLAST95

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF229178 mRNA Translation: AAF69491.1
AF274972 mRNA Translation: AAG13461.1
AF465246 mRNA Translation: AAP97716.1
AK074893 mRNA Translation: BAC11272.1
AB208832 mRNA Translation: BAD92069.1 Different initiation.
AB208949 mRNA Translation: BAD92186.1 Different initiation.
AB209529 mRNA Translation: BAD92766.1 Different initiation.
AL833849 mRNA Translation: CAD38708.1 Different initiation.
BC014904 mRNA Translation: AAH14904.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44508.1 [Q9HB75-2]
CCDS7716.1 [Q9HB75-1]

NCBI Reference Sequences

More...
RefSeqi
NP_665893.2, NM_145886.3 [Q9HB75-1]
NP_665894.2, NM_145887.3 [Q9HB75-2]
XP_011518512.1, XM_011520210.2 [Q9HB75-1]
XP_011518513.1, XM_011520211.2 [Q9HB75-2]
XP_016873482.1, XM_017017993.1 [Q9HB75-4]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.592290

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000347755; ENSP00000337797; ENSG00000177595 [Q9HB75-1]
ENST00000411829; ENSP00000416801; ENSG00000177595 [Q9HB75-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55367

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55367

UCSC genome browser

More...
UCSCi
uc001lro.3 human [Q9HB75-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF229178 mRNA Translation: AAF69491.1
AF274972 mRNA Translation: AAG13461.1
AF465246 mRNA Translation: AAP97716.1
AK074893 mRNA Translation: BAC11272.1
AB208832 mRNA Translation: BAD92069.1 Different initiation.
AB208949 mRNA Translation: BAD92186.1 Different initiation.
AB209529 mRNA Translation: BAD92766.1 Different initiation.
AL833849 mRNA Translation: CAD38708.1 Different initiation.
BC014904 mRNA Translation: AAH14904.1
CCDSiCCDS44508.1 [Q9HB75-2]
CCDS7716.1 [Q9HB75-1]
RefSeqiNP_665893.2, NM_145886.3 [Q9HB75-1]
NP_665894.2, NM_145887.3 [Q9HB75-2]
XP_011518512.1, XM_011520210.2 [Q9HB75-1]
XP_011518513.1, XM_011520211.2 [Q9HB75-2]
XP_016873482.1, XM_017017993.1 [Q9HB75-4]
UniGeneiHs.592290

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OF5X-ray3.20H/I/J/K/L778-883[»]
ProteinModelPortaliQ9HB75
SMRiQ9HB75
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120645, 37 interactors
CORUMiQ9HB75
IntActiQ9HB75, 14 interactors
MINTiQ9HB75
STRINGi9606.ENSP00000337797

Protein family/group databases

MEROPSiS68.001

PTM databases

iPTMnetiQ9HB75
PhosphoSitePlusiQ9HB75

Polymorphism and mutation databases

BioMutaiPIDD
DMDMi116242715

Proteomic databases

PaxDbiQ9HB75
PeptideAtlasiQ9HB75
PRIDEiQ9HB75
ProteomicsDBi81501
81502 [Q9HB75-2]
81503 [Q9HB75-3]
81504 [Q9HB75-4]
81505 [Q9HB75-5]
81506 [Q9HB75-6]
81507 [Q9HB75-7]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55367
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347755; ENSP00000337797; ENSG00000177595 [Q9HB75-1]
ENST00000411829; ENSP00000416801; ENSG00000177595 [Q9HB75-2]
GeneIDi55367
KEGGihsa:55367
UCSCiuc001lro.3 human [Q9HB75-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55367
DisGeNETi55367
EuPathDBiHostDB:ENSG00000177595.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PIDD1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0021767
HGNCiHGNC:16491 PIDD1
HPAiCAB012647
HPA055473
MIMi605247 gene
neXtProtiNX_Q9HB75
OpenTargetsiENSG00000177595
PharmGKBiPA30445

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
KOG4177 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000161780
HOVERGENiHBG066762
InParanoidiQ9HB75
KOiK10130
OMAiLWYTTKT
OrthoDBiEOG091G01ZE
PhylomeDBiQ9HB75
TreeFamiTF331183

Enzyme and pathway databases

ReactomeiR-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
SignaLinkiQ9HB75

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PIDD1 human
EvolutionaryTraceiQ9HB75

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LRDD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55367

Protein Ontology

More...
PROi
PR:Q9HB75

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000177595 Expressed in 166 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ9HB75 baseline and differential
GenevisibleiQ9HB75 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR019502 Peptidase_S68_pidd
IPR000906 ZU5_dom
PfamiView protein in Pfam
PF00531 Death, 1 hit
PF13855 LRR_8, 2 hits
PF10461 Peptidase_S68, 1 hit
PF00791 ZU5, 2 hits
SMARTiView protein in SMART
SM00005 DEATH, 1 hit
SM00369 LRR_TYP, 7 hits
SUPFAMiSSF47986 SSF47986, 1 hit
PROSITEiView protein in PROSITE
PS50017 DEATH_DOMAIN, 1 hit
PS51450 LRR, 7 hits
PS51145 ZU5, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPIDD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HB75
Secondary accession number(s): Q59FD1
, Q59H10, Q59HC7, Q7Z4P8, Q8NC89, Q8NDL2, Q96C25, Q9NRE6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: October 17, 2006
Last modified: December 5, 2018
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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