PMAIP1
Phorbol-12-myristate-13-acetate-induced protein 1
Also known as: APR, APR_HUMAN, NOXA
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13794
- Gene
- PMAIP1
- Ensembl
- ENSG00000141682
- Chromosome
- 18
- Canonical length
- 54 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]
Canonical amino-acid sequenceUniProt
54 residues, UniProt reviewed canonical sequence.
>Q13794|PMAIP1
1 MPGKKARKNA QPSPARAPAE LEVECATQLR RFGDKLNFRQ KLLNLISKLF CSGTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PMAIP1 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)
- 0.59
- Highest tissue expression
- 83 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 83 nTPM
- skin: 23 nTPM
- urinary bladder: 16 nTPM
- pituitary gland: 15 nTPM
- parathyroid gland: 14 nTPM
- lymph node: 14 nTPM
Single-cell type
- ocular epithelial cells: 810 nCPM
- esophageal apical cells: 771 nCPM
- basal keratinocytes: 663 nCPM
- epididymal basal cells: 659 nCPM
- suprabasal keratinocytes: 577 nCPM
- endometrial luminal cells: 493 nCPM
Immune cell
- basophil: 170 nTPM
- eosinophil: 104 nTPM
- neutrophil: 54 nTPM
- memory B-cell: 34 nTPM
- non-classical monocyte: 32 nTPM
- intermediate monocyte: 26 nTPM
Brain region
- cerebral cortex: 3.9 nTPM
- thalamus: 3.8 nTPM
- choroid plexus: 2.7 nTPM
- pons: 2.7 nTPM
- medulla oblongata: 2.4 nTPM
- hypothalamus: 2.1 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)
- 1.85
- gnomAD pLI
- 0.11
- gnomAD missense Z
- 0.28
- DepMap mean gene effect
- 0.13
- 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
- apoptotic process
- cellular response to glucose starvation
- cellular response to hypoxia
- defense response to virus
- DNA damage response
- intrinsic apoptotic signaling pathway
- intrinsic apoptotic signaling pathway by p53 class mediator
- negative regulation of mitochondrial membrane potential
- positive regulation of apoptotic process
- positive regulation of DNA damage response, signal transduction by p53 class mediator
- positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
- positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
- positive regulation of glucose metabolic process
- positive regulation of intrinsic apoptotic signaling pathway
- positive regulation of release of cytochrome c from mitochondria
- proteasomal protein catabolic process
- reactive oxygen species metabolic process
- regulation of mitochondrial membrane permeability
- release of cytochrome c from mitochondria
- response to dsRNA
- T cell homeostasis
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Phorbol-12-myristate-13-acetate-induced protein 1
- Phorbol-12-myristate-13-acetate-induced
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PMAIP1 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 PMAIP1 as an antibody target. Whether an autoantibody or antibody against PMAIP1 could matter depends on whether native PMAIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PMAIP1 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 PMAIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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