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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EIPR1
EARP complex and GARP complex interacting protein 1
Chromosome 2 · 2p25.3
NCBI Gene: 7260Ensembl: ENSG00000032389.13HGNC: HGNC:12383UniProt: A8MUM1
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GARP complexEARP complexprotein bindingpositive regulation of retrograde transport, endosome to Golgisinoatrial node disordercervical carcinomaangina pectorisdyshidrosis
✦AI Summary

EIPR1 (EARP complex and GARP complex interacting protein 1) is a WD40-domain protein that functions as a critical component of endosomal retrieval machinery 1. It mediates recruitment of the GARP complex to the trans-Golgi network and promotes recycling of internalized transferrin receptor through interaction with the EARP complex, thereby controlling early endosome-to-Golgi transport 1. EIPR1 also cooperates with EARP in dense core vesicle biogenesis, essential for proper insulin secretion 2. Pathogenic variants in EIPR1 cause a neurodevelopmental disorder characterized by global developmental delay, microcephaly, ataxia, spasticity, cerebellar atrophy, and neutropenia 2. These variants reduce EIPR1 protein levels and impair its interaction with EARP and GARP complexes, resulting in endolysosomal dysfunction and compromised vesicle trafficking 2. Zebrafish models confirm that EIPR1 is essential for nervous system development and locomotor function 2. Clinically, EIPR1 emerges as a prognostic biomarker in multiple cancers, particularly lung adenocarcinoma, where elevated expression correlates with poor survival and increased invasion 3. Epigenetic regulation of EIPR1 through allele-specific methylation influences psychiatric disorder susceptibility, with altered EIPR1 expression affecting neural development and vesicle trafficking 4. Additionally, EIPR1 genetic variants associate with pain sensitivity 5.

Sources cited
1
EIPR1/TSSC1 is a WD40-domain protein that interacts with both GARP and EARP complexes, mediates GARP recruitment to TGN, and is required for transferrin recycling and retrograde transport
PMID: 27440922
2
Pathogenic EIPR1 variants cause neurodevelopmental disorder with microcephaly, ataxia, cerebellar atrophy, and impaired dense core vesicle biogenesis; variants reduce protein levels and EARP/GARP complex interaction
PMID: 41058046
3
EIPR1 is overexpressed in most cancers and serves as a prognostic biomarker in lung adenocarcinoma; EIPR1 knockdown suppresses malignant growth, invasion, and migration
PMID: 40154585
4
Allele-specific methylation at EIPR1 regulatory loci influences psychiatric disorder susceptibility through effects on EIPR1 expression and neural development
PMID: 33963283
5
EIPR1 genetic variants (rs58194899) associate with pain sensitivity in genome-wide association study
PMID: 34924555
6
EIPR1/TSSC1 inhibits breast cancer cell invasion and is negatively regulated by Runx2, linking it to bone osteolysis
PMID: 23933319
Disease Associationsⓘ20
sinoatrial node disorderOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.26Weak
angina pectorisOpen Targets
0.26Weak
dyshidrosisOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.25Weak
enteritisOpen Targets
0.25Weak
disorder of earOpen Targets
0.24Weak
obesityOpen Targets
0.17Weak
NephropathyOpen Targets
0.14Weak
smoking initiationOpen Targets
0.14Weak
laryngeal carcinomaOpen Targets
0.14Weak
nephritisOpen Targets
0.14Weak
pulmonary edemaOpen Targets
0.13Weak
aortic valve stenosisOpen Targets
0.12Weak
insomniaOpen Targets
0.12Weak
liver diseaseOpen Targets
0.11Weak
Abnormality of refractionOpen Targets
0.11Weak
thrombophiliaOpen Targets
0.11Weak
ovarian dysfunctionOpen Targets
0.10Weak
polycystic ovary syndromeOpen Targets
0.10Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VPS53Protein interaction100%VPS50Protein interaction97%VPS51Protein interaction93%VPS52Protein interaction93%VPS54Protein interaction93%CCDC186Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
91%
Liver
75%
Heart
54%
Lung
47%
Ovary
33%
Gene Interaction Network
Click a node to explore
EIPR1VPS53VPS50VPS51VPS52VPS54CCDC186
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53HC9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.40–0.76]
RankingsWhere EIPR1 stands among ~20K protein-coding genes
  • #11,909of 20,598
    Most Researched30
  • #6,086of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedEIPR1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Pan-cancer analysis identifies EIPR1 as a potential prognostic and immunological biomarker for lung adenocarcinoma and its functional validation.
PMID: 40154585
Gene · 2025
1.00
2
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
PMID: 41058046
Brain · 2025
0.88
3
Allele-specific DNA methylation maps in monozygotic twins discordant for psychiatric disorders reveal that disease-associated switching at the EIPR1 regulatory loci modulates neural function.
PMID: 33963283
Mol Psychiatry · 2021
0.75
4
Genome-wide association study of pain sensitivity assessed by questionnaire and the cold pressor test.
PMID: 34924555
Pain · 2022
0.63
5
TSSC1 is novel component of the endosomal retrieval machinery.
PMID: 27440922
Mol Biol Cell · 2016
0.50