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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPFIA4
PPFI scaffold protein A4
Chromosome 1 · 1q32.1
NCBI Gene: 8497Ensembl: ENSG00000143847.16HGNC: HGNC:9248UniProt: A0A8J8YUZ5
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsynapse organizationpresynaptic active zonesynapseatrial fibrillationcardiac arrhythmianeurodegenerative diseaseatrial flutter
✦AI Summary

PPFIA4 (liprin-α4) is a scaffold protein encoded on chromosome 1.1 that belongs to the PPFIA family of kinesin-cargo linkers 1. The protein contains PFIH and SAM domains enabling binding to LAR subfamily protein tyrosine phosphatases and PPFIBP family proteins 1. Structurally, PPFIA4 lacks the C-terminal GRIP-binding domain present in other PPFIA family members 1. Beyond canonical focal adhesion regulation, PPFIA4 functions in mitochondrial metabolism and cellular stress response. In cancer cells, PPFIA4 localizes to mitochondria where it binds and phosphorylates MTHFD2, enhancing one-carbon metabolism and NADPH synthesis to protect against metabolic stress 2. PPFIA4 similarly promotes glucose metabolic reprogramming in response to hypoxia via HIF1α signaling 3. In endothelial cells, PPFIA4 maintains mitochondrial homeostasis and blood-brain barrier integrity, with its mRNA stability regulated by DDX24 4. Clinically, PPFIA4 upregulation associates with aggressive cancer phenotypes across multiple malignancies. In castration-resistant prostate cancer, colorectal cancer, esophageal cancer, and ovarian cancer, PPFIA4 promotes cell proliferation, migration, glycolysis, and poor patient survival 2, 5, 6, 7, 3. Additionally, PPFIA4 DNA methylation status predicts individual therapeutic responses to the antidepressant paroxetine in major depressive disorder 8.

Sources cited
1
PPFIA4 gene structure, domain organization (PFIH1-4, SAM domains), and binding partners for LAR subfamily PTPases and PPFIBP proteins
PMID: 14612982
2
PPFIA4 localizes to mitochondria, interacts with MTHFD2, enhances one-carbon metabolism and NADPH synthesis, and promotes castration-resistant prostate cancer
PMID: 35382861
3
PPFIA4 promotes colorectal cancer cell proliferation and migration with poor prognostic outcomes
PMID: 38769694
4
PPFIA4 inhibition reduces esophageal cancer cell invasion, migration, MMP expression, and glycolysis
PMID: 38182152
5
PPFIA4 expression is elevated in colorectal cancer tissues and associated with poor differentiation and lymph node metastasis; miR-485-5p negatively regulates PPFIA4
PMID: 36605492
6
DDX24 binds PPFIA4 mRNA and enhances its stability; PPFIA4 maintains mitochondrial homeostasis and blood-brain barrier function in endothelial cells
PMID: 41105514
7
HIF1α induces PPFIA4 expression, promoting glucose metabolic reprogramming and ovarian cancer progression under hypoxia
PMID: 37596446
8
PPFIA4 DNA methylation status at CpG site cg00594917 predicts therapeutic response to paroxetine in major depressive disorder
PMID: 29131015
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.42Moderate
cardiac arrhythmiaOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.33Weak
atrial flutterOpen Targets
0.29Weak
viral pneumoniaOpen Targets
0.24Weak
heart diseaseOpen Targets
0.20Weak
cardioembolic strokeOpen Targets
0.16Weak
chronic obstructive pulmonary diseaseOpen Targets
0.15Weak
preeclampsiaOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
corneal endothelial dystrophyOpen Targets
0.05Suggestive
keratoconus 1Open Targets
0.05Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.04Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.04Suggestive
keratoconus 5Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NBEAShared pathway100%PPFIBP1Protein interaction81%PPFIBP2Protein interaction81%GIT1Protein interaction77%SNCBShared pathway33%DRP2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
42%
Bone Marrow
15%
Lung
4%
Ovary
4%
Liver
1%
Gene Interaction Network
Click a node to explore
PPFIA4NBEAPPFIBP1PPFIBP2GIT1SNCBDRP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75335
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.66–0.92]
RankingsWhere PPFIA4 stands among ~20K protein-coding genes
  • #12,852of 20,598
    Most Researched26
  • #8,386of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedPPFIA4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of human PPFIA4 gene in silico.
PMID: 14612982
Int J Mol Med · 2003
1.00
2
PPFIA4 promotes castration-resistant prostate cancer by enhancing mitochondrial metabolism through MTHFD2.
PMID: 35382861
J Exp Clin Cancer Res · 2022
0.90
3
Enterotoxin-related genes PPFIA4 and SCN3B promote colorectal cancer development and progression.
PMID: 38769694
J Biochem Mol Toxicol · 2024
0.80
4
PPFIA4 Promotes Proliferation, Migration and Glycolysis of Esophageal Cancer Cells.
PMID: 38182152
Ann Clin Lab Sci · 2023
0.70
5
Clinicopathological Significances and Prognostic Value of
PMID: 36605492
J Cancer · 2023
0.60