PDCD10
Programmed cell death protein 10
Also known as: CCM3, PDC10_HUMAN, TFAR15
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BUL8
- Gene
- PDCD10
- Ensembl
- ENSG00000114209
- Chromosome
- 3
- Canonical length
- 212 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
212 residues, UniProt reviewed canonical sequence.
>Q9BUL8|PDCD10
1 MRMTMEEMKN EAETTSMVSM PLYAVMYPVF NELERVNLSA AQTLRAAFIK AEKENPGLTQ
61 DIIMKILEKK SVEVNFTESL LRMAADDVEE YMIERPEPEF QDLNEKARAL KQILSKIPDE
121 INDRVRFLQT IKDIASAIKE LLDTVNNVFK KYQYQNRRAL EHQKKEFVKY SKSFSDTLKT
181 YFKDGKAINV FVSANRLIHQ TNLILQTFKT VALocalizationUniProt · AlphaFold · HPA
Whether an antibody against PDCD10 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 58 nTPM
- lymph node: 50 nTPM
- tonsil: 49 nTPM
- esophagus: 48 nTPM
- colon: 48 nTPM
- thymus: 47 nTPM
Single-cell type
- platelets: 662 nCPM
- esophageal apical cells: 490 nCPM
- megakaryocytes: 414 nCPM
- neutrophils: 198 nCPM
- neutrophil progenitors: 193 nCPM
- parietal cells: 186 nCPM
Immune cell
- basophil: 226 nTPM
- eosinophil: 197 nTPM
- T-reg: 182 nTPM
- neutrophil: 176 nTPM
- non-classical monocyte: 140 nTPM
- naive B-cell: 137 nTPM
Brain region
- white matter: 46 nTPM
- cerebral cortex: 43 nTPM
- cerebellum: 39 nTPM
- hypothalamus: 38 nTPM
- spinal cord: 38 nTPM
- medulla oblongata: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PDCD10.
Disease | AllUniProt
Conditions PDCD10 is implicated in, by any mechanism.
- Cerebral cavernous malformations 3 (CCM3) MIM:603285
Disease | GeneticClinVar
82 pathogenic / likely-pathogenic of 207 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cerebral cavernous malformation 3
- PDCD10-related disorder
- Cerebral cavernous malformation
- Seizure
- Cerebral arteriovenous malformation
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)
- 0.33
- gnomAD pLI
- 0.96
- gnomAD missense Z
- 1.43
- DepMap mean gene effect
- 0.25
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- cellular response to leukemia inhibitory factor
- endothelium development
- establishment of Golgi localization
- Golgi reassembly
- intracellular signal transduction
- intrinsic apoptotic signaling pathway in response to hydrogen peroxide
- negative regulation of apoptotic process
- negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
- negative regulation of cell migration involved in sprouting angiogenesis
- negative regulation of gene expression
- positive regulation of cell migration
- positive regulation of cell population proliferation
- positive regulation of gene expression
- positive regulation of intracellular protein transport
- positive regulation of MAP kinase activity
- positive regulation of Notch signaling pathway
- positive regulation of peptidyl-serine phosphorylation
- positive regulation of protein serine/threonine kinase activity
- positive regulation of stress-activated MAPK cascade
- protein stabilization
- regulation of angiogenesis
- wound healing, spreading of cells
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Programmed cell death protein 10, dimerisation domain superfamily
- Programmed cell death protein 10, dimerisation domain
- Programmed cell death protein 10, dimerisation domain
- Programmed cell death protein 10
- Programmed cell death protein 10, C-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PDCD10 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 PDCD10 as an antibody target. Whether an autoantibody or antibody against PDCD10 could matter depends on whether native PDCD10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PDCD10 is annotated at the cell surface, where native PDCD10 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PDCD10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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