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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1
Chromosome 5 Β· 5q35.1
NCBI Gene: 57222Ensembl: ENSG00000113719.17HGNC: HGNC:29205UniProt: A0A8I5KPY8
82PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulum to Golgi vesicle-mediated transportprotein bindingnucleoplasmendoplasmic reticulum-Golgi intermediate compartmentarthrogryposis multiplex congenita 2, neurogenic typeNeurogenic arthrogryposis multiplex congenitainflammatory bowel diseasevein disorder
✦AI Summary

ERGIC1 (endoplasmic reticulum-Golgi intermediate compartment 1) encodes a putative transmembrane protein that functions in vesicular transport between the endoplasmic reticulum and Golgi apparatus 1. The protein localizes to the ER-Golgi intermediate compartment and facilitates bidirectional transport processes. ERGIC1 appears to regulate cellular proliferation, particularly in cancer contexts, where its expression correlates with oncogene activity 2. In prostate cancer, ERGIC1 silencing specifically affects ERG oncogene-positive cells and reduces ERG mRNA expression 2. The gene also influences autophagy inhibition and interferon-gamma signaling through IFNGR1 stabilization, affecting MHC class I expression and immune surveillance 3. Disease associations include arthrogryposis multiplex congenita, where bi-allelic ERGIC1 loss causes relatively mild joint contractures and facial dysmorphism 1. Complete loss of function through homozygous deletion results in absence of ERGIC1 expression but produces a surprisingly mild arthrogryposis phenotype 1. ERGIC1 has also been identified as a susceptibility gene for amyotrophic lateral sclerosis through genome-wide association studies 4 and shows altered expression in gastric cancer progression 5.

Sources cited
1
ERGIC1 encodes a putative transmembrane protein of the ER-Golgi interface and bi-allelic loss causes mild arthrogryposis
PMID: 34037256
2
ERGIC1 silencing affects ERG oncogene-positive prostate cancer cells and reduces ERG mRNA expression
PMID: 22761906
3
ERGIC1 facilitates autophagy inhibition and IFNGR1 stabilization to activate IFN-Ξ³ signaling
PMID: 37979167
4
ERGIC1 identified as ALS susceptibility gene through genome-wide association studies
PMID: 32968195
5
ERGIC1 expression decreases during gastric cancer progression
PMID: 28970727
Disease Associationsβ“˜21
arthrogryposis multiplex congenita 2, neurogenic typeOpen Targets
0.62Moderate
Neurogenic arthrogryposis multiplex congenitaOpen Targets
0.59Moderate
inflammatory bowel diseaseOpen Targets
0.38Weak
vein disorderOpen Targets
0.38Weak
asthmaOpen Targets
0.36Weak
Varicose veinsOpen Targets
0.31Weak
ulcerative colitisOpen Targets
0.30Weak
Flexion contractureOpen Targets
0.26Weak
lymphatic system diseaseOpen Targets
0.25Weak
tooth diseaseOpen Targets
0.25Weak
amyotrophic lateral sclerosisOpen Targets
0.16Weak
ovarian dysfunctionOpen Targets
0.14Weak
Abruptio PlacentaeOpen Targets
0.13Weak
atopic eczemaOpen Targets
0.13Weak
frontotemporal dementiaOpen Targets
0.13Weak
abscessOpen Targets
0.10Weak
cellulitisOpen Targets
0.10Weak
JaundiceOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
Eczematoid dermatitisOpen Targets
0.06Suggestive
Arthrogryposis multiplex congenita 2, neurogenic typeUniProt
Pathogenic Variants2
NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)Pathogenic
Arthrogryposis multiplex congenita 2, neurogenic type
β˜†β˜†β˜†β˜†2020β†’ Residue 98
NM_001031711.3(ERGIC1):c.782G>A (p.Gly261Asp)Likely pathogenic
Flexion contracture
β˜†β˜†β˜†β˜†β†’ Residue 261
View on ClinVar β†—
Related Genes
ERGIC2Shared pathway100%GTPBP3Protein interaction93%LMAN1Protein interaction88%SURF4Protein interaction88%SURF2Protein interaction71%ARCN1Shared pathway67%
Tissue Expression6 tissues
Liver
100%
Lung
68%
Heart
39%
Ovary
34%
Brain
20%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
ERGIC1ERGIC2GTPBP3LMAN1SURF4SURF2ARCN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q969X5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.46 [0.32–0.68]
RankingsWhere ERGIC1 stands among ~20K protein-coding genes
  • #5,788of 20,598
    Most Researched82
  • #4,350of 5,498
    Most Pathogenic Variants2
  • #5,103of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedERGIC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Blood transcriptome analysis uncovered COVID-19-myocarditis crosstalk.
PMID: 38373644
Microb Pathog Β· 2024
0.90
3
E3 ligase Trim35 inhibits LSD1 demethylase activity through K63-linked ubiquitination and enhances anti-tumor immunity in NSCLC.
PMID: 37979167
Cell Rep Β· 2023
0.80
4
High-throughput transcriptomic and RNAi analysis identifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer.
PMID: 22761906
PLoS One Β· 2012
0.70
5
Large-scale genetic study identifies shared genetic regions between cerebrovascular and neurodegenerative diseases.
PMID: 40884086
Int J Stroke Β· 2026
0.60