Seroatlas · Human Serome Atlas

PIDD1

p53-induced death domain-containing protein 1

Also known as: DKFZp434D229, LRDD, MGC16925, PIDD, PIDD1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9HB75
Gene: PIDD1
Ensembl: ENSG00000177595
Chromosome: 11
Canonical length: 910 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Cytosol

OverviewNCBI 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-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]

Canonical amino-acid sequenceUniProt

910 residues, UniProt reviewed canonical sequence.

>Q9HB75|PIDD1
     1  MAATVEGPEL EAAAAAGDAS EDSDAGSRAL PFLGGNRLSL DLYPGGCQQL LHLCVQQPLQ
    61  LLQVEFLRLS THEDPQLLEA TLAQLPQSLS CLRSLVLKGG QRRDTLGACL RGALTNLPAG
   121  LSGLAHLAHL DLSFNSLETL PACVLQMRGL GALLLSHNCL SELPEALGAL PALTFLTVTH
   181  NRLQTLPPAL GALSTLQRLD LSQNLLDTLP PEIGGLGSLL ELNLASNRLQ SLPASLAGLR
   241  SLRLLVLHSN LLASVPADLA RLPLLTRLDL RDNQLRDLPP ELLDAPFVRL QGNPLGEASP
   301  DAPSSPVAAL IPEMPRLFLT SDLDSFPVTP QGCSVTLACG VRLQFPAGAT ATPITIRYRL
   361  LLPEPGLVPL GPHDALLSHV LELQPHGVAF QQDVGLWLLF TPPQARRCRE VVVRTRNDNS
   421  WGDLETYLEE EAPQRLWAHC QVPHFSWFLV VSRPVSNACL VPPEGTLLCS SGHPGVKVIF
   481  PPGATEEPRR VSMQVVRMAG RELQALLGEP EAAVSPLLCL SQSGPPSFLQ PVTVQLPLPS
   541  GITGLSLDRS RLHLLYWAPP AATWDDITAQ VVLELTHLYA RFQVTHFSWY WLWYTTKNCV
   601  GGLARKAWER LRLHRVNLIA LQRRRDPEQV LLQCLPRNKV DATLRRLLER YRGPEPSDTV
   661  EMFEGEEFFA AFERGIDVDA DRPDCVEGRI CFVFYSHLKN VKEVYVTTTL DREAQAVRGQ
   721  VSFYRGAVPV RVPEEAEAAR QRKGADALWM ATLPIKLPRL RGSEGPRRGA GLSLAPLNLG
   781  DAETGFLTQS NLLSVAGRLG LDWPAVALHL GVSYREVQRI RHEFRDDLDE QIRHMLFSWA
   841  ERQAGQPGAV GLLVQALEQS DRQDVAEEVR AVLELGRRKY QDSIRRMGLA PKDPALPGSS
   901  APQPPEPAQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIDD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 5.6 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 5.6 nTPM
liver: 5 nTPM
spleen: 4.5 nTPM
skeletal muscle: 4.3 nTPM
skin: 4.3 nTPM
prostate: 3.8 nTPM

Single-cell type

early primary spermatocytes: 37 nCPM
cytotrophoblasts: 36 nCPM
astrocytes: 29 nCPM
ependymal cells: 29 nCPM
differentiating spermatogonia: 27 nCPM
oligodendrocytes: 25 nCPM

Immune cell

T-reg: 0.9 nTPM
myeloid DC: 0.8 nTPM
intermediate monocyte: 0.5 nTPM
classical monocyte: 0.4 nTPM
gdT-cell: 0.4 nTPM
MAIT T-cell: 0.4 nTPM

Brain region

white matter: 6.3 nTPM
medulla oblongata: 4.8 nTPM
pons: 4.4 nTPM
thalamus: 4 nTPM
cerebral cortex: 3.8 nTPM
basal ganglia: 3.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIDD1.

Disease | AllUniProt

Conditions PIDD1 is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly (MRT75) MIM:619827

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 339 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
Intellectual disability
Cervical cancer
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.1
gnomAD pLI: 0
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Death domain
ZU5 domain
Leucine-rich repeat
Leucine-rich repeat, typical subtype
Death-like domain superfamily
Leucine-rich repeat domain superfamily
Leucine-rich repeat domain-containing protein
Death domain
ZU5 domain
Leucine rich repeat
Peptidase S68, pidd
Peptidase S68

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PIDD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PIDD1 as an antibody target. Whether an autoantibody or antibody against PIDD1 could matter depends on whether native PIDD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PIDD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PIDD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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