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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PHETA1
PH domain containing endocytic trafficking adaptor 1
Chromosome 12 · 12q24.12
NCBI Gene: 144717Ensembl: ENSG00000198324.15HGNC: HGNC:26509UniProt: Q8N4B1
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein homodimerization activityreceptor recyclingendosome organizationhypertensionovarian dysfunctionmyocardial infarctionesophageal carcinoma
✦AI Summary

PHETA1 (also known as IPIP27A, Ses1, or FAM109A) is a PH domain-containing endocytic trafficking adapter protein essential for receptor recycling in the endosomal system 1. The protein localizes to early endosomes, recycling endosomes, and the trans-Golgi network, where it forms homo- and heterodimers required for directing recycled receptors both to the trans-Golgi network and back to the plasma membrane 1. PHETA1 functions by binding to OCRL1 (oculocerebrorenal syndrome of Lowe protein) and INPP5B via a conserved F&H motif, positioning it at critical junctions in endocytic trafficking 2. In vivo studies demonstrate that PHETA1 deficiency impairs endocytosis and ciliogenesis in renal tissues while disrupting craniofacial development through dysregulation of cathepsin K and abnormal collagen maturation 3. Disease relevance is underscored by a patient with the dominant-negative R6C variant exhibiting craniofacial defects, and by genetic evidence linking PHETA1 to primary open-angle glaucoma susceptibility, suggesting shared neuroprotective mechanisms in visual pathway tissues 43. These findings implicate PHETA1 dysfunction in Lowe syndrome and Dent disease pathogenesis, making it a potential target for therapeutic intervention in endosomal trafficking disorders.

Sources cited
1
PHETA1 (IPIP27A) localizes to early/recycling endosomes and TGN; forms dimers; required for receptor recycling to both TGN and plasma membrane; binds OCRL1 and INPP5B via conserved motif
PMID: 21233288
2
PHETA1 (Ses1) interacts with OCRL via F&H motif; interaction mutually exclusive with APPL1; localizes to endosomes
PMID: 20133602
3
PHETA1/2 deficiency impairs renal endocytosis and ciliogenesis; disrupts craniofacial development via cathepsin K dysregulation; patient with R6C variant exhibits dominant-negative craniofacial defects
PMID: 32152089
4
PHETA1 identified as shared potential causal gene between primary open-angle glaucoma and visual pathway brain regions through SMR analysis
PMID: 41328997
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hypertensionOpen Targets
0.48Moderate
ovarian dysfunctionOpen Targets
0.30Weak
myocardial infarctionOpen Targets
0.28Weak
esophageal carcinomaOpen Targets
0.26Weak
major depressive disorderOpen Targets
0.25Weak
coronary artery diseaseOpen Targets
0.15Weak
goutOpen Targets
0.13Weak
angina pectorisOpen Targets
0.12Weak
upper respiratory tract disorderOpen Targets
0.12Weak
Ischemic strokeOpen Targets
0.11Weak
atrial fibrillationOpen Targets
0.10Weak
Myocardial IschemiaOpen Targets
0.08Suggestive
esophageal cancerOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
open-angle glaucomaOpen Targets
0.07Suggestive
cirrhosis of liverOpen Targets
0.07Suggestive
intermediate coronary syndromeOpen Targets
0.07Suggestive
strokeOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
venous thromboembolismOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLEKHJ1Protein interaction89%PHETA2Protein interaction86%CUX2Protein interaction83%INPP5BProtein interaction82%OCRLProtein interaction82%PLEKHA3Shared pathway75%
Tissue Expression6 tissues
Liver
100%
Ovary
74%
Lung
63%
Heart
54%
Brain
13%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
PHETA1PLEKHJ1PHETA2CUX2INPP5BOCRLPLEKHA3
PROTEIN STRUCTURE
Preparing viewer…
PDB3QIS · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF1.81 [0.62–1.94]
RankingsWhere PHETA1 stands among ~20K protein-coding genes
  • #13,977of 20,598
    Most Researched21
  • #17,603of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedPHETA1
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain.
PMID: 41328997
Invest Ophthalmol Vis Sci · 2025
1.00
2
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.
PMID: 32152089
Dis Model Mech · 2020
0.75
3
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
PMID: 20133602
Proc Natl Acad Sci U S A · 2010
0.50
4
The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.
PMID: 21233288
Mol Biol Cell · 2011
0.25