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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHLDA1
pleckstrin homology like domain family A member 1
Chromosome 12 · 12q21.2
NCBI Gene: 22822Ensembl: ENSG00000139289.15HGNC: HGNC:8933UniProt: Q8WV24
61PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoluspositive regulation of apoptotic processnucleusalcohol drinkingatrial fibrillationself-injurious ideationankylosing spondylitis
✦AI Summary

PHLDA1 (pleckstrin homology like domain family A member 1) is a multifunctional protein that primarily regulates apoptosis and cellular stress responses across diverse tissue types. The protein functions as a pro-apoptotic regulator in some contexts, as demonstrated by its ability to increase basal apoptosis and enhance sensitivity to chemotherapeutic agents like doxorubicin in melanoma cells 1. However, PHLDA1 also exhibits protective functions, particularly in maintaining tissue integrity. In intestinal epithelial cells, PHLDA1 protects against inflammatory bowel disease by interacting with MCL1 to prevent its ubiquitin-proteasome degradation, thereby reducing epithelial cell apoptosis and preserving intestinal barrier function 2. Similarly, in cardiac tissue, PHLDA1 functions downstream of FGF10/FGFR2b signaling to activate the AKT pathway, providing cardioprotection against doxorubicin-induced toxicity 3. The protein's expression is dysregulated in various diseases, being downregulated in metastatic melanoma, non-alcoholic fatty liver disease, and colorectal cancer 145. In neuroblastoma, PHLDA1 upregulation following antibody treatment may promote differentiation and enhance therapeutic responses 6. These findings suggest PHLDA1 functions as a context-dependent regulator of cell survival and tissue homeostasis.

Sources cited
1
PHLDA1 increases basal apoptosis and enhances chemotherapy sensitivity in melanoma cells
PMID: 12384558
2
PHLDA1 protects intestinal epithelial cells by interacting with MCL1 to prevent apoptosis and maintain barrier function
PMID: 39510153
3
PHLDA1 functions in FGF10/FGFR2b/AKT pathway to provide cardioprotection against doxorubicin toxicity
PMID: 37225844
4
PHLDA1 is downregulated in NAFLD and reduces lipid accumulation when overexpressed
PMID: 39496918
5
PHLDA1 is a key genomic feature distinguishing right-sided colon cancer
PMID: 39731152
6
PHLDA1 upregulation in neuroblastoma promotes differentiation-like phenotype and may enhance therapeutic responses
PMID: 38495105
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.15Weak
self-injurious ideationOpen Targets
0.14Weak
ankylosing spondylitisOpen Targets
0.13Weak
hemolytic anemiaOpen Targets
0.13Weak
obesityOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
VertigoOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
neuroblastomaOpen Targets
0.09Suggestive
central nervous system cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
atrial flutterOpen Targets
0.09Suggestive
complex regional pain syndromeOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
placental retentionOpen Targets
0.08Suggestive
Abruptio PlacentaeOpen Targets
0.08Suggestive
dislocationOpen Targets
0.08Suggestive
colitisOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PNMA2Shared pathway100%BLIDShared pathway100%C3orf38Shared pathway100%PNMA5Shared pathway100%STPG1Shared pathway100%CSRNP3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
33%
Lung
27%
Liver
23%
Brain
23%
Ovary
18%
Gene Interaction Network
Click a node to explore
PHLDA1PNMA2BLIDC3orf38PNMA5STPG1CSRNP3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WV24
View on AlphaFold ↗
RankingsWhere PHLDA1 stands among ~20K protein-coding genes
  • #7,592of 20,598
    Most Researched61
Genes detectedPHLDA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multiple Machine Learning Identifies Key Gene PHLDA1 Suppressing NAFLD Progression.
PMID: 39496918
Inflammation · 2025
1.00
2
Colorectal Cancer Stem Cell States Uncovered by Simultaneous Single-Cell Analysis of Transcriptome and Telomeres.
PMID: 33898197
Adv Sci (Weinh) · 2021
0.90
3
[Not Available].
PMID: 30477681
Ann Dermatol Venereol · 2018
0.80
4
Distinct microbes, metabolites, and the host genome define the multi-omics profiles in right-sided and left-sided colon cancer.
PMID: 39731152
Microbiome · 2024
0.70
5
Identification of the human PHLDA1/TDAG51 gene: down-regulation in metastatic melanoma contributes to apoptosis resistance and growth deregulation.
PMID: 12384558
Cancer Res · 2002
0.60