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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PEF1
penta-EF-hand domain containing 1
Chromosome 1 · 1p35.2
NCBI Gene: 553115Ensembl: ENSG00000162517.14HGNC: HGNC:30009UniProt: A0A384MQX5
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingcytoplasmcytosolextracellular exosomeintelligenceHypercholesterolemiaAbnormality of the skeletal systemattention deficit hyperactivity disorder
✦AI Summary

PEF1 (penta-EF-hand domain containing 1) is a calcium-binding protein that functions as a calcium-dependent adapter in protein complex assembly and ER-Golgi transport. Primary Function: PEF1 acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium increases 1. Mechanism: In response to cytosolic calcium elevation, PEF1 forms a heterodimer with PDCD6 (ALG2) that interacts with the BCR(KLHL12)-SEC31 complex, promoting monoubiquitination of SEC31 and subsequent collagen export 1. This calcium-dependent co-adaptor initiates CRL3 complex formation by releasing KLHL12 from assembly inhibitors at the endoplasmic reticulum, coupling target recognition to ubiquitylation 2. However, evidence suggests PEF1 may also dissociate from PDCD6 in the presence of calcium and act as a negative regulator of ER-Golgi transport 3. Disease Relevance: PEF1's calcium-dependent regulation of CUL3 ubiquitin ligase activity is essential for neural crest specification; aberrant CUL3 activation has been linked to autism, schizophrenia, and hypertension 1. Clinical Significance: PEF1 was identified as upregulated in TRAIL-sensitive myeloma cells, suggesting potential involvement in apoptosis-related pathways relevant to cancer therapeutics 4. The protein's role in collagen secretion and craniofacial bone formation highlights developmental importance.

Sources cited
1
PEF1-ALG2 heterodimer acts as calcium-dependent co-adaptor for CUL3-KLHL12-SEC31 complex; promotes SEC31 monoubiquitination and collagen export; essential for neural crest specification
PMID: 27716508
2
PEF1-ALG2 co-adaptor initiates CRL3 formation by releasing KLHL12 from assembly inhibitor; couples target recognition to ubiquitylation
PMID: 35120648
3
PEF1 dissociates from PDCD6 in presence of calcium; may act as negative regulator of PDCD6
PMID: 11278427
4
PEF1 upregulated in TRAIL-sensitive myeloma cells; identified as apoptosis-related target protein
PMID: 27284413
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
intelligenceOpen Targets
0.26Weak
HypercholesterolemiaOpen Targets
0.24Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
attention deficit hyperactivity disorderOpen Targets
0.16Weak
autism spectrum disorderOpen Targets
0.16Weak
Mungan syndromeOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
fungal infectious diseaseOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
ciliopathyOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CUL3Protein interaction100%SEC13Protein interaction99%SEC24CProtein interaction99%SEC24DProtein interaction99%SEC24BProtein interaction99%SEC23AProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Liver
92%
Brain
77%
Heart
77%
Ovary
71%
Bone Marrow
62%
Gene Interaction Network
Click a node to explore
PEF1CUL3SEC13SEC24CSEC24DSEC24BSEC23A
PROTEIN STRUCTURE
Preparing viewer…
PDB8RBH · 1.88 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.52 [0.36–0.79]
RankingsWhere PEF1 stands among ~20K protein-coding genes
  • #6,661of 20,598
    Most Researched71
  • #6,485of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedPEF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 38915521
bioRxiv · 2024
1.00
2
The CDK Pef1 and protein phosphatase 4 oppose each other for regulating cohesin binding to fission yeast chromosomes.
PMID: 31895039
Elife · 2020
0.90
3
Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor.
PMID: 27716508
Cell · 2016
0.80
4
Impacts of Preeclampsia on the Brain of the Offspring.
PMID: 27420777
Rev Bras Ginecol Obstet · 2016
0.70
5
Transcription factor SOX3 upregulated pro-apoptotic genes expression in human breast cancer.
PMID: 36175695
Med Oncol · 2022
0.60