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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IER3IP1
immediate early response 3 interacting protein 1
Chromosome 18 · 18q21.1
NCBI Gene: 51124Ensembl: ENSG00000134049.7HGNC: HGNC:18550UniProt: Q9Y5U9
37PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitotic cytokinesispositive regulation of extracellular matrix constituent secretionendoplasmic reticulum membranemicrocephaly, epilepsy, and diabetes syndrome 1microcephaly, epilepsy, and diabetes syndromeneurodegenerative diseasemultiple epiphyseal dysplasia
✦AI Summary

IER3IP1 (immediate early response 3 interacting protein 1) is an endoplasmic reticulum membrane protein that serves as a critical regulator of ER-to-Golgi trafficking and cellular homeostasis 1. The protein localizes to Rab11 vesicles and interacts with Rab11, playing an essential role in cytokinesis by regulating vesicle fusion to the advancing furrow during cell division 1. IER3IP1 is particularly important for proinsulin trafficking from the ER to Golgi in pancreatic β-cells, with loss of function resulting in threefold reduced trafficking efficiency and subsequent β-cell dysfunction 2. The protein also regulates the unfolded protein response by limiting activation of the inositol-requiring enzyme-1α and X-box binding protein 1 pathway 3. Biallelic mutations in IER3IP1 cause Microcephaly, Epilepsy, and Diabetes Syndrome 1 (MEDS1), a rare autosomal recessive disorder characterized by severe microcephaly, early-onset diabetes, and epilepsy 4. Disease-causing mutations impair the protein's localization to Rab11 vesicles and disrupt ER-to-Golgi trafficking 1. Beyond its role in pancreatic β-cells and neurons, IER3IP1 is essential for B cell development, with hypomorphic mutations causing B cell deficiency 3. The protein also responds to cellular stress, with expression transiently increased by TNF-α through NF-κB-mediated transcriptional activation 5.

Sources cited
1
IER3IP1 localizes to Rab11 vesicles, interacts with Rab11, and regulates cytokinesis through vesicle fusion
PMID: 40991444
2
IER3IP1 loss reduces ER-to-Golgi proinsulin trafficking threefold and causes β-cell dysfunction
PMID: 39441964
3
IER3IP1 limits unfolded protein response activation and is essential for B cell development
PMID: 37934820
4
IER3IP1 mutations cause MEDS1 with microcephaly, epilepsy, and diabetes
PMID: 36416459
5
IER3IP1 expression is increased by TNF-α through NF-κB-mediated transcriptional regulation
PMID: 19885854
Disease Associationsⓘ21
microcephaly, epilepsy, and diabetes syndrome 1Open Targets
0.79Strong
microcephaly, epilepsy, and diabetes syndromeOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
multiple epiphyseal dysplasiaOpen Targets
0.53Moderate
Intellectual disabilityOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.24Weak
genetic disorderOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.06Suggestive
Abnormal urine sodium concentrationOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
corneal dystrophyOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
placental retentionOpen Targets
0.03Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
migraine disorderOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
gastritisOpen Targets
0.03Suggestive
synovium disorderOpen Targets
0.02Suggestive
breast adenosisOpen Targets
0.02Suggestive
Microcephaly, epilepsy, and diabetes syndrome 1UniProt
Pathogenic Variants1
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)Pathogenic
Microcephaly, epilepsy, and diabetes syndrome|Microcephaly, epilepsy, and diabetes syndrome 1
★★☆☆2025→ Residue 78
View on ClinVar ↗
Related Genes
YIPF5Protein interaction74%YIPF6Protein interaction52%TMEM167ACo-mentioned in literature25%MYH10Shared pathway20%MATCAP1Shared pathway20%VCX3BShared pathway20%
Tissue Expression6 tissues
Heart
100%
Brain
93%
Liver
81%
Lung
61%
Bone Marrow
58%
Ovary
47%
Gene Interaction Network
Click a node to explore
IER3IP1YIPF5YIPF6TMEM167AMYH10MATCAP1VCX3B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y5U9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.42 [0.94–1.91]
RankingsWhere IER3IP1 stands among ~20K protein-coding genes
  • #10,635of 20,598
    Most Researched37
  • #5,194of 5,498
    Most Pathogenic Variants1
  • #17,294of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedIER3IP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 40991444
Proc Natl Acad Sci U S A · 2025
1.00
2
Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.
PMID: 19885854
Cell Biochem Funct · 2010
0.90
3
[The expression of IER3IP1 gene in K562 cells treated by matrine and its effect on the cell growth].
PMID: 18476594
Zhonghua Xue Ye Xue Za Zhi · 2007
0.80
4
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
PMID: 40924476
J Clin Invest · 2025
0.70
5
A New Variant of the
PMID: 36416459
J Clin Res Pediatr Endocrinol · 2024
0.60