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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RMC1
regulator of MON1-CCZ1
Chromosome 18 · 18q11.2
NCBI Gene: 29919Ensembl: ENSG00000141452.11HGNC: HGNC:24326UniProt: B7Z201
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Mon1-Ccz1 complexprotein bindingregulation of autophagylate endosome membranehypertensionobesitytype 2 diabetes mellitusasthma
✦AI Summary

RMC1 (regulator of MON1-CCZ1) is a subunit of the CCZ1-MON1 Rab7 guanine exchange factor (GEF) complex that regulates endosomal and autophagic trafficking 1. As a positive regulator of CCZ1-MON1 function, RMC1 facilitates RAB7A recruitment to late endosomes and autophagosomes, promoting their maturation and lysosomal fusion 12. Structurally, RMC1 serves as an essential membrane recruitment factor for the GEF complex through electrostatic interactions with lipid membranes, distinguishing the metazoan tri-subunit complex from simpler dimeric fungal homologs 2. RMC1 deficiency impairs autophagic flux, causing accumulation of late endosome/autophagosome maturation regulators and reduced lysosomal content 1. Clinically, RMC1 dysfunction is implicated in endolysosomal trafficking defects affecting antibody-drug conjugate (ADC) toxicity in cancer cells 3. Additionally, genome-wide association studies identify RMC1 variants associated with dietary preferences and lipid metabolism, suggesting pleiotropic functions beyond autophagy 4. RMC1 thus represents a critical node integrating membrane trafficking, autophagy regulation, and metabolic homeostasis.

Sources cited
1
RMC1 identified as CCZ1-MON1 RAB7 GEF subunit; positive regulator of RAB7 recruitment to late endosomes/autophagosomes and endosomal/autophagic flux
PMID: 29038162
2
RMC1/Bulli acts as essential mediator of GEF complex membrane recruitment through electrostatic lipid interactions
PMID: 40864718
3
C18ORF8/RMC1 regulates ADC toxicity through endosomal maturation
PMID: 31451760
4
RMC1 associated with vegetarianism at genome-wide significance; implicated in lipid metabolism and brain function
PMID: 37792698
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hypertensionOpen Targets
0.46Moderate
obesityOpen Targets
0.40Moderate
type 2 diabetes mellitusOpen Targets
0.39Weak
asthmaOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.37Weak
overnutritionOpen Targets
0.34Weak
cervical carcinomaOpen Targets
0.28Weak
retinal degenerationOpen Targets
0.27Weak
heart failureOpen Targets
0.26Weak
liver diseaseOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
edemaOpen Targets
0.23Weak
cardiovascular diseaseOpen Targets
0.23Weak
atrial fibrillationOpen Targets
0.23Weak
diabetic neuropathyOpen Targets
0.23Weak
metabolic syndromeOpen Targets
0.22Weak
smoking initiationOpen Targets
0.22Weak
essential hypertensionOpen Targets
0.20Weak
health study participationOpen Targets
0.17Weak
risk-taking behaviourOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEPP1Shared pathway100%MTCL3Shared pathway100%DRAM1Shared pathway100%CCZ1Protein interaction100%CCZ1BProtein interaction99%MON1BProtein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
67%
Liver
54%
Brain
53%
Ovary
36%
Heart
33%
Gene Interaction Network
Click a node to explore
RMC1DEPP1MTCL3DRAM1CCZ1CCZ1BMON1B
PROTEIN STRUCTURE
Preparing viewer…
PDB9L0D · 3.41 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.43 [0.33–0.57]
RankingsWhere RMC1 stands among ~20K protein-coding genes
  • #12,224of 20,598
    Most Researched29
  • #3,768of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedRMC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Receptors for polytropic and xenotropic mouse leukaemia viruses encoded by a single gene at Rmc1.
PMID: 9988277
Nat Genet · 1999
1.00
2
Systematic Analysis of Human Cells Lacking ATG8 Proteins Uncovers Roles for GABARAPs and the CCZ1/MON1 Regulator C18orf8/RMC1 in Macroautophagic and Selective Autophagic Flux.
PMID: 29038162
Mol Cell Biol · 2018
0.90
3
Genetics of vegetarianism: A genome-wide association study.
PMID: 37792698
PLoS One · 2023
0.80
4
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
PMID: 29777677
Exp Eye Res · 2018
0.70
5
Predictive Intelligent Control of Oxygenation in Preterm Infants: A Two-Center Feasibility Study.
PMID: 36481622
Neonatology · 2023
0.60