PDCD6
Programmed cell death protein 6
Also known as: ALG-2, PDCD6_HUMAN, PEF1B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75340
- Gene
- PDCD6
- Ensembl
- ENSG00000249915
- Chromosome
- 5
- Canonical length
- 191 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transporters
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
Canonical amino-acid sequenceUniProt
191 residues, UniProt reviewed canonical sequence.
>O75340|PDCD6
1 MAAYSYRPGP GAGPGPAAGA ALPDQSFLWN VFQRVDKDRS GVISDTELQQ ALSNGTWTPF
61 NPVTVRSIIS MFDRENKAGV NFSEFTGVWK YITDWQNVFR TYDRDNSGMI DKNELKQALS
121 GFGYRLSDQF HDILIRKFDR QGRGQIAFDD FIQGCIVLQR LTDIFRRYDT DQDGWIQVSY
181 EQYLSMVFSI VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PDCD6 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 132 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 132 nTPM
- adrenal gland: 105 nTPM
- epididymis: 103 nTPM
- kidney: 99 nTPM
- choroid plexus: 98 nTPM
- cerebral cortex: 97 nTPM
Single-cell type
- oligodendrocytes: 61 nCPM
- other brain neurons: 58 nCPM
- choroid plexus epithelial cells: 57 nCPM
- brain excitatory neurons: 57 nCPM
- podocytes: 56 nCPM
- microglia: 53 nCPM
Immune cell
- total PBMC: 356 nTPM
- eosinophil: 286 nTPM
- NK-cell: 262 nTPM
- memory B-cell: 254 nTPM
- T-reg: 237 nTPM
- neutrophil: 233 nTPM
Brain region
- white matter: 77 nTPM
- cerebellum: 68 nTPM
- spinal cord: 65 nTPM
- hypothalamus: 64 nTPM
- medulla oblongata: 63 nTPM
- pons: 60 nTPM
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)
- 0.95
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.45
- DepMap mean gene effect
- -0.15
- 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
- apoptotic signaling pathway
- cellular response to heat
- COPII vesicle coating
- endoplasmic reticulum to Golgi vesicle-mediated transport
- intracellular protein transport
- negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- negative regulation of TOR signaling
- negative regulation of vascular endothelial growth factor receptor signaling pathway
- neural crest cell development
- neural crest formation
- positive regulation of angiogenesis
- positive regulation of apoptotic process
- positive regulation of endothelial cell migration
- positive regulation of endothelial cell proliferation
- positive regulation of protein monoubiquitination
- response to calcium ion
- vascular endothelial growth factor receptor-2 signaling pathway
Molecular functions
- calcium ion binding
- calcium-dependent protein binding
- identical protein binding
- magnesium ion binding
- protein dimerization activity
- protein heterodimerization activity
- protein homodimerization activity
- protein-macromolecule adaptor activity
- protein-membrane adaptor activity
- ubiquitin-like ligase-substrate adaptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PDCD6 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 PDCD6 as an antibody target. Whether an autoantibody or antibody against PDCD6 could matter depends on whether native PDCD6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PDCD6 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 PDCD6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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