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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MON1A
MON1 vesicular trafficking associated A
Chromosome 3 Β· 3p21.31
NCBI Gene: 84315Ensembl: ENSG00000164077.16HGNC: HGNC:28207UniProt: Q86VX9
20PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Mon1-Ccz1 complexprotein bindingguanyl-nucleotide exchange factor activityprotein secretioncongenital diarrheadiabetes mellitusAbnormality of the skeletal systemtype 2 diabetes mellitus
✦AI Summary

MON1A is a guanine exchange factor (GEF) that plays a critical role in vesicular trafficking and cellular homeostasis. Working in concert with CCZ1 and C18orf8, MON1A catalyzes the exchange of GDP for GTP on the small GTPase RAB7, converting it from an inactive to active state 1. This activation is essential for directing RAB7 recruitment to autophagosomal and lysosomal membranes 1, and facilitating late endosome-lysosome trafficking and cholesterol homeostasis through NPC1-dependent lysosomal cholesterol export 2. MON1A localizes to secretory lysosomes through interaction with the V-ATPase a3 isoform, which recruits the MON1A-CCZ1 complex to these compartments 3. Beyond autophagy, MON1A functions broadly in protein trafficking through the secretory apparatus, including ferroportin trafficking to macrophage surfaces 4, and regulates SNARE complex assembly during autophagosome maturation 5. Disease relevance was recently established when MON1A mutations were identified as novel causal variants in congenital diarrhea and enteropathy (CODE), a severe pediatric disorder 6, suggesting MON1A dysfunction impairs intestinal epithelial protein trafficking or barrier function. The structural basis of MON1A's GEF mechanism involves direct interaction with RAB7's phosphate-binding loop 1, providing a framework for understanding disease mechanisms and therapeutic development.

Sources cited
1
MON1A-CCZ1 complex serves as a GEF for RAB7A, induces conformational changes in RAB7A P-loop and Switch regions, and cryo-EM structure demonstrates mechanism at 2.85 Γ… resolution
PMID: 40979223
2
MON1A mutations identified as novel causal variants in congenital diarrhea and enteropathy disorders through exome/genome sequencing in 129 infant probands
PMID: 40174224
3
V-ATPase a3 subunit interacts with MON1A-CCZ1 complex through longin domains and recruits it to secretory lysosomes for RAB7 activation
PMID: 35589873
4
MON1A-CCZ1-C18orf8 trimeric GEF activates RAB7 to license NPC1-dependent lysosomal cholesterol export and coordinate endosomal LDL trafficking
PMID: 33144569
5
GORASP2 modulates MON1A-CCZ1 GEF activity to control RAB7A activation during autophagosome maturation and SNARE complex assembly
PMID: 39056394
6
Mon1a is involved in ferroportin trafficking to macrophage surfaces and has a fundamental role in the mammalian secretory apparatus
PMID: 17632513
7
MON1A contains triplicated longin domains and is part of HerMon complexes that function as Rab GEFs and effectors in vesicular trafficking
PMID: 31562761
Disease Associationsβ“˜20
congenital diarrheaOpen Targets
0.27Weak
diabetes mellitusOpen Targets
0.13Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.09Suggestive
basal cell carcinomaOpen Targets
0.09Suggestive
asthmaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.09Suggestive
Knee painOpen Targets
0.09Suggestive
gastroesophageal reflux diseaseOpen Targets
0.08Suggestive
early-onset non-syndromic cataractOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
intelligenceOpen Targets
0.07Suggestive
Total congenital cataractOpen Targets
0.07Suggestive
Cataract-microcornea syndromeOpen Targets
0.07Suggestive
Partial congenital cataractOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
early-onset nuclear cataractOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
Posterior polar cataractOpen Targets
0.06Suggestive
Pathogenic Variants1
NM_032355.4(MON1A):c.454C>T (p.Arg152Cys)Likely pathogenic
Congenital diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 152
View on ClinVar β†—
Related Genes
CCZ1BProtein interaction99%RABEP1Protein interaction97%GAPVD1Protein interaction97%RABGEF1Protein interaction97%RAB7AProtein interaction93%VPS41Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Lung
49%
Brain
48%
Ovary
40%
Heart
34%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
MON1ACCZ1BRABEP1GAPVD1RABGEF1RAB7AVPS41
PROTEIN STRUCTURE
Preparing viewer…
PDB9L0D Β· 3.41 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.47–0.85]
RankingsWhere MON1A stands among ~20K protein-coding genes
  • #14,200of 20,598
    Most Researched20
  • #5,377of 5,498
    Most Pathogenic Variants1
  • #7,445of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedMON1A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
PMID: 40174224
N Engl J Med Β· 2025
1.00
2
The lysosomal V-ATPase a3 subunit is involved in localization of Mon1-Ccz1, the GEF for Rab7, to secretory lysosomes in osteoclasts.
PMID: 35589873
Sci Rep Β· 2022
0.90
3
Hexa-Longin domain scaffolds for inter-Rab signalling.
PMID: 31562761
Bioinformatics Β· 2020
0.80
4
Cryo-EM structure of the human MON1A-CCZ1-RAB7A complex provides insights into nucleotide exchange mechanism.
PMID: 40979223
Life Metab Β· 2025
0.70
5
GORASP2 promotes phagophore closure and autophagosome maturation into autolysosomes.
PMID: 39056394
Autophagy Β· 2025
0.60