Affinage

MON1A

Vacuolar fusion protein MON1 homolog A · UniProt Q86VX9

Length
652 aa
Mass
72.9 kDa
Annotated
2026-06-10
32 papers in source corpus 16 papers cited in narrative 15 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MON1A is the core subunit of a guanine nucleotide exchange factor (GEF) complex that drives the early-to-late endosome Rab conversion central to endolysosomal maturation (PMID:20305638, PMID:33144569). It binds GTP-loaded RAB5 as a RAB5 effector and, in complex with CCZ1 (and the third subunit C18orf8/SAND1), activates RAB7 to advance endosomes and phagosomes from a RAB5-positive to a RAB7-positive stage (PMID:20305638, PMID:33144569); orthologs in C. elegans (SAND-1) and Drosophila (Dmon1) establish that this RAB7-recruitment function is deeply conserved, with loss causing failure of endocytic cargo delivery to lysosomes and accumulation of transmembrane cargo such as Notch (PMID:17203072, PMID:23418349). The MON1A-CCZ1 complex is recruited to and regulated at specific membranes by partners including the V-ATPase a3 subunit, FYCO1, NRBF2, and GORASP2, which couple RAB7 activation to autophagosome maturation, late endosome/lysosome fusion via HOPS, and secretory lysosome trafficking (PMID:32543313, PMID:35589873, PMID:31992042, PMID:37418591, PMID:39056394). Active RAB7 generated by this complex licenses NPC1-dependent lysosomal cholesterol export and is required for autophagic degradation of substrates including APP-CTFs, Aβ, and P-tau (PMID:33144569, PMID:35198070). Independently of its endosomal GEF role, MON1A participates in anterograde secretory trafficking and Golgi maintenance, acting through dynein intermediate chain and the F-BAR protein FCHO2 to support ER-to-Golgi transport and lateral linkage of Golgi ministacks into ribbons (PMID:22665492, PMID:37461455). MON1A variants cause congenital diarrhea and enteropathy in humans (PMID:40174224).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2007 High

    Established that the MON1A ortholog is required specifically at the early-to-late endosome transition, distinguishing its role from initial RAB7 recruitment.

    Evidence C. elegans loss-of-function genetics with fluorescent endocytic cargo tracers

    PMID:17203072

    Open questions at the time
    • Did not define the biochemical activity of SAND-1
    • Mammalian relevance not yet shown
    • Partner proteins unidentified
  2. 2007 High

    Linked mammalian Mon1a to vesicular trafficking of cell-surface and secreted cargo, showing a missense allele reduces surface ferroportin and implicating a broad role in the secretory apparatus.

    Evidence QTL mapping, congenic mouse lines, cell-based trafficking assays

    PMID:17632513

    Open questions at the time
    • Molecular mechanism connecting Mon1a to ferroportin trafficking unresolved
    • Relationship to endosomal Rab conversion not yet integrated
  3. 2010 High

    Defined MON1A as a RAB5 effector whose complex with CCZ1 binds and activates RAB7, providing the molecular basis for Rab conversion during phagosome maturation.

    Evidence Mammalian RNAi, reciprocal Co-IP with GTP/GDP-locked Rab mutants, phagosome maturation assays in two organisms

    PMID:20305638

    Open questions at the time
    • Did not resolve the full subunit composition of the human complex
    • Structural basis of GEF catalysis not addressed
  4. 2012 High

    Revealed a distinct anterograde secretory role for Mon1a in ER-to-Golgi transport and Golgi reassembly, via association with dynein intermediate chain.

    Evidence siRNA knockdown, ts045VSVG-GFP/EndoH trafficking assay, Brefeldin A reformation, Co-IP/MS

    PMID:22665492

    Open questions at the time
    • How a RAB7 GEF subunit also acts in anterograde secretion mechanistically unclear
    • Whether CCZ1 is involved in this function untested
  5. 2013 High

    Confirmed in Drosophila that Mon1 is required for RAB7 recruitment to maturing endosomes, with cargo accumulation phenocopying Rab7 loss.

    Evidence Drosophila loss-of-function genetics, fluorescence and electron microscopy

    PMID:23418349

    Open questions at the time
    • Did not address regulatory inputs controlling timing of conversion
  6. 2020 High

    Resolved the human GEF as the trimeric MON1A-CCZ1-C18orf8 complex and showed active RAB7 it generates licenses NPC1-dependent lysosomal cholesterol export.

    Evidence Genome-wide CRISPR screen, KO and rescue with constitutively active Rab7, cholesterol reporter, NPC1 Co-IP

    PMID:33144569

    Open questions at the time
    • Structural organization of the trimer not determined
    • Whether C18orf8 contributes catalytically or to recruitment unclear
  7. 2020 High

    Identified NRBF2 as a regulator that sustains CCZ1-MON1A GEF activity by linking it to PI3KC3/VPS34, connecting RAB7 activation to autophagosome maturation.

    Evidence Co-IP, GST-R7BD GTP-RAB7 pull-down, NRBF2 loss-of-function, autophagosome fractionation, PI3K activity assay

    PMID:32543313

    Open questions at the time
    • How PI3KC3 activity feeds back on GEF catalysis mechanistically unresolved
    • Single lab
  8. 2020 Medium

    Showed FYCO1's GOLD domain binds CCZ1-MON1A and is required for RAB7A activation and autophagosomal/endosomal fusion with lysosomes.

    Evidence AP-MS, Co-IP validation, FYCO1 KO/KD functional assays

    PMID:31992042 PMID:37418591

    Open questions at the time
    • Whether FYCO1 recruits or allosterically activates the complex unclear
    • Interaction interface not mapped
  9. 2022 Medium

    Demonstrated that the V-ATPase a3 subunit recruits Mon1A-Ccz1 to secretory lysosomes via longin-domain interactions, enabling RAB7-dependent bone resorption in osteoclasts.

    Evidence Co-IP with domain mapping, longin-domain mutants, immunofluorescence in a3-deficient osteoclasts

    PMID:35589873

    Open questions at the time
    • Single lab
    • Direct demonstration of GEF activity at secretory lysosomes not shown
  10. 2022 Medium

    Established in vivo that boosting the CCZ1-MON1A complex raises autophagosomal GTP-RAB7 and promotes autophagic clearance of AD-associated substrates.

    Evidence AAV gain/loss-of-function in 3xTg AD mice, GST-R7BD pull-down from purified autophagosomes

    PMID:35198070

    Open questions at the time
    • Single lab
    • Whether effect is direct on autophagy versus indirect endosomal contributions not fully separated
  11. 2014 Medium

    Placed SAND-1/CCZ-1 GEF activity upstream of HOPS-mediated late endosome-lysosome fusion and showed CCZ-1 can partner alternative subunits for distinct Rab pathways.

    Evidence C. elegans genetic epistasis, fluorescence microscopy of gut granule trafficking

    PMID:24501423

    Open questions at the time
    • Mammalian equivalent of CCZ1 partner-switching not characterized
    • Single lab
  12. 2023 Medium

    Proposed a secretory-pathway role in which Mon1a interacts with FCHO2 to laterally link Golgi ministacks into ribbons.

    Evidence Yeast two-hybrid, Co-IP, siRNA knockdown, FRAP (preprint)

    PMID:37461455

    Open questions at the time
    • Preprint not yet peer-reviewed
    • Relationship of this Golgi function to RAB7 GEF activity unresolved
  13. 2024 Medium

    Identified GORASP2 as a modulator of MON1A-CCZ1 that tunes RAB7A activity, HOPS interaction, and autophagosome maturation.

    Evidence siRNA depletion, RAB7A activity assays, Co-IP, super-resolution microscopy

    PMID:39056394

    Open questions at the time
    • MON1A-CCZ1 modulation is a secondary finding
    • Mechanism of GORASP2 action on the GEF unclear
    • Single lab
  14. 2025 Medium

    Connected MON1A to human disease, showing variants cause congenital diarrhea and enteropathy with a confirmed role in intestinal epithelial function.

    Evidence Exome/genome sequencing, cell and zebrafish variant functional testing

    PMID:40174224

    Open questions at the time
    • Single study
    • Mechanism linking specific variants to epithelial dysfunction not detailed
  15. 2025 Medium

    Showed that ubiquitinated endosomal cargo and ESCRT-0 act as a timer controlling when SAND-1/CCZ-1 displaces the RAB5 GEF to initiate conversion.

    Evidence C. elegans genetic epistasis, fluorescence microscopy, Rab7 overexpression rescue

    PMID:39910226

    Open questions at the time
    • Molecular mechanism of GEF displacement not resolved
    • Mammalian conservation untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How MON1A reconciles its conserved RAB7 GEF function with its distinct roles in anterograde ER-to-Golgi/Golgi-ribbon maintenance, and the structural basis of complex assembly and catalysis, remain open.
  • No structure of the human MON1A-CCZ1-C18orf8 complex in the corpus
  • Whether anterograde and endosomal functions use the same protein pool unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 3 GO:0060090 molecular adaptor activity 2
Localization
GO:0005768 endosome 3 GO:0005764 lysosome 2 GO:0005794 Golgi apparatus 2
Pathway
R-HSA-5653656 Vesicle-mediated transport 3 R-HSA-9609507 Protein localization 2 R-HSA-9612973 Autophagy 2
Complex memberships
MON1A-CCZ1-C18orf8 (MCC) RAB7 GEF complex

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2007 MON1A ortholog SAND-1 in C. elegans is essential for RAB-7 function at the transition from early to late endosomes; loss of SAND-1 causes delayed endocytic transport and failure to deliver cargo to lysosomes, while initial RAB-7 recruitment is not affected by SAND-1 loss at lysosomes. C. elegans genetics (RNAi, loss-of-function mutants), fluorescence microscopy of endocytic cargo trafficking The EMBO journal High 17203072
2007 Mon1a controls vesicular trafficking of ferroportin (the major iron exporter) to the macrophage cell surface; a missense allele of Mon1a (C57BL/10J) reduces surface ferroportin levels, increasing macrophage iron content. Mon1a also affects trafficking of cell-surface and secreted molecules unrelated to iron metabolism, indicating a general role in the mammalian secretory apparatus. Quantitative trait locus analysis, congenic mouse lines, cell-based trafficking assays Nature genetics High 17632513
2010 MON1A (and its paralog Mon1b) are required for phagosome maturation: phagosomes in Mon1a/b-depleted mammalian cells recruit RAB5 but fail to progress to the RAB7-positive stage. Mon1 interacts with GTP-bound Rab5, identifying Mon1 as a Rab5 effector. A Mon1-Ccz1 complex (but not either protein alone) binds Rab7 and can influence Rab7 activation, linking the Rab5-positive to Rab7-positive stage of phagosome maturation. C. elegans genetics, mammalian cell RNAi, Co-immunoprecipitation with GTP/GDP-locked Rab mutants, phagosome maturation assays Nature High 20305638
2012 Mon1a functions in anterograde trafficking through the secretory pathway including ER-to-Golgi and Golgi-to-plasma membrane steps. siRNA knockdown delays Golgi reassembly after Brefeldin A treatment and slows ER-to-Golgi transport of ts045VSVG-GFP (confirmed by EndoH sensitivity). Mon1a associates with dynein intermediate chain (by co-immunoprecipitation and mass spectrometry), and reductions in Mon1a or dynein both alter Golgi morphology. siRNA knockdown, Brefeldin A reformation assay, ts045VSVG-GFP trafficking assay with EndoH treatment, co-immunoprecipitation, mass spectrometry The Journal of biological chemistry High 22665492
2013 Drosophila Mon1 ortholog Dmon1 is required for recruitment of Rab7 to maturing endosomes; loss of Dmon1 causes enlarged maturing endosomes that lose Rab7 association and accumulate transmembrane cargo such as Notch, phenocopying Rab7 loss of function. Drosophila genetics (loss-of-function mutants), fluorescence microscopy, electron microscopy of endosomes Journal of cell science High 23418349
2020 MON1A is a core component of the trimeric Mon1-Ccz1-C18orf8 (MCC) GEF complex for Rab7. MON1A/B-deficient cells lack Rab7 activation and show severe defects in late endosome morphology and endosomal LDL trafficking. Active Rab7 (dependent on MCC complex) interacts with the NPC1 cholesterol transporter to license lysosomal cholesterol export; this process is abolished in Mon1A/B-deficient cells and restored by constitutively active Rab7. Genome-wide CRISPR screen, CRISPR knockout, cholesterol reporter, Rab7 activation assays, co-immunoprecipitation with NPC1, rescue with constitutively active Rab7 Nature communications High 33144569
2020 NRBF2 interacts with the CCZ1-MON1A GEF complex and is required for maintaining its GEF activity toward RAB7; NRBF2 regulates CCZ1-MON1A interaction with PI3KC3/VPS34 and CCZ1-associated PI3KC3 kinase activity, which are required for CCZ1-MON1A GEF activity. Loss of NRBF2 impairs autophagosome maturation and APP-CTF degradation via reduced GTP-RAB7 levels on autophagosomes. Co-immunoprecipitation, GST-R7BD affinity-isolation (GTP-RAB7 pull-down), NRBF2 knockdown/knockout, autophagosome purification, PI3K activity assay Autophagy High 32543313
2022 The lysosomal V-ATPase a3 subunit interacts with the Mon1A-Ccz1 GEF complex; interaction is mediated by the amino-terminal half domain of a3 and the longin motifs of Mon1A and Ccz1. a3 recruits Mon1A-Ccz1 to secretory lysosomes in osteoclasts, which is required for Rab7 activation and subsequent outward trafficking of secretory lysosomes for bone resorption. Co-immunoprecipitation in HEK293T cells, Mon1A longin-domain mutants deficient in Rab7 interaction, immunofluorescence of endogenous Ccz1 in a3-deficient osteoclasts Scientific reports Medium 35589873
2022 Overexpression of the CCZ1-MON1A GEF complex increases active (GTP-bound) RAB7 in autophagosome fractions, enhances autophagosome maturation, and promotes degradation of APP-CTFs, Aβ, and P-tau in an autophagy-dependent manner in AD cell and mouse models; conversely, knockdown of MON1A impairs autophagosome maturation. AAV-mediated stereotaxic brain injection for MON1A/CCZ1 overexpression or knockdown, GST-R7BD affinity-isolation from purified autophagosomes, immunoblotting, 3xTg AD mouse model Theranostics Medium 35198070
2020 The GOLD domain of FYCO1 interacts with the CCZ1-MON1A complex; this interaction was identified by AP-MS and validated by co-immunoprecipitation. FYCO1 interaction with CCZ1-MON1A is necessary for RAB7A activation and fusion of autophagosomal/endosomal vesicles with lysosomes. Affinity purification-mass spectrometry (spin-tip IMAC columns), co-immunoprecipitation validation, FYCO1 KO/KD functional assays Analytical chemistry / Autophagy Medium 31992042 37418591
2014 In C. elegans, the SAND-1/CCZ-1 complex acts as a GEF for RAB-7 to promote HOPS effector activity and late endosome-lysosome fusion. SAND-1 does not participate in gut granule (lysosome-related organelle) formation, indicating that CCZ-1 can partner with a different protein (GLO-3) to activate an alternate Rab (GLO-1) for LRO biogenesis. C. elegans genetics (loss-of-function mutants, epistasis), fluorescence microscopy of gut granule protein trafficking Molecular biology of the cell Medium 24501423
2023 Mon1a is required for maintenance of Golgi architecture. Mon1a interacts with the F-BAR protein FCHO2 (identified by yeast two-hybrid and co-immunoprecipitation). siRNA-mediated depletion of Mon1a or FCHO2 causes Golgi fragmentation and abolishes exchange of resident membrane proteins between Golgi ministacks (shown by FRAP). Mon1a-silenced Golgi disruption is not cell cycle-dependent, unlike FCHO2-silenced disruption. Mon1a thus generates lateral links between Golgi ministacks to create Golgi ribbons. Yeast two-hybrid, co-immunoprecipitation, siRNA knockdown, fluorescence microscopy, FRAP analysis bioRxivpreprint Medium 37461455
2025 MON1A variants were identified as causal for congenital diarrhea and enteropathy (CODEs) in human infants; functional characterization in cell and zebrafish models confirmed a role for MON1A in intestinal epithelial function. Exome/genome sequencing, cell models, zebrafish models with variant functional testing The New England journal of medicine Medium 40174224
2024 GORASP2 controls RAB7A activity by modulating its GEF complex MON1A-CCZ1, thereby impacting RAB7A's interaction with the HOPS complex and autophagosome maturation. siRNA depletion of GORASP2, RAB7A activity assays, Co-IP, super-resolution microscopy Autophagy Medium 39056394
2025 In C. elegans, ubiquitinated proteins on the endosomal limiting membrane prevent displacement of the Rab5 GEF RABX-5 by the Rab7 GEF SAND-1/CCZ-1, thus upstream ESCRT-0 activity and ubiquitinated cargo act as timers for the onset of Rab conversion mediated by SAND-1/CCZ-1. C. elegans genetics (loss-of-function, epistasis), fluorescence microscopy, Rab7 overexpression rescue The EMBO journal Medium 39910226

Source papers

Stage 0 corpus · 32 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells. Nature 204 20305638
2010 Rab7: role of its protein interaction cascades in endo-lysosomal traffic. Cellular signalling 181 20851765
2007 Caenorhabditis elegans SAND-1 is essential for RAB-7 function in endosomal traffic. The EMBO journal 92 17203072
2020 A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. Nature communications 78 33144569
2018 Mycobacterial PknG Targets the Rab7l1 Signaling Pathway To Inhibit Phagosome-Lysosome Fusion. Journal of immunology (Baltimore, Md. : 1950) 61 30037848
2007 Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice. Nature genetics 60 17632513
2013 Dmon1 controls recruitment of Rab7 to maturing endosomes in Drosophila. Journal of cell science 44 23418349
2020 NRBF2 is a RAB7 effector required for autophagosome maturation and mediates the association of APP-CTFs with active form of RAB7 for degradation. Autophagy 43 32543313
2016 Selection and Validation of Reference Genes for Quantitative Real-time PCR in Gentiana macrophylla. Frontiers in plant science 34 27446172
2018 Function and regulation of the Caenorhabditis elegans Rab32 family member GLO-1 in lysosome-related organelle biogenesis. PLoS genetics 32 30419011
2022 Enhancing autophagy maturation with CCZ1-MON1A complex alleviates neuropathology and memory defects in Alzheimer disease models. Theranostics 26 35198070
2014 Identification of suitable qPCR reference genes in leaves of Brassica oleracea under abiotic stresses. Ecotoxicology (London, England) 24 24566730
2014 Caenorhabditis elegans HOPS and CCZ-1 mediate trafficking to lysosome-related organelles independently of RAB-7 and SAND-1. Molecular biology of the cell 22 24501423
2020 Probing Protein-Protein Interactions with Label-Free Mass Spectrometry Quantification in Combination with Affinity Purification by Spin-Tip Affinity Columns. Analytical chemistry 21 31992042
2014 Loss of the Sec1/Munc18-family proteins VPS-33.2 and VPS-33.1 bypasses a block in endosome maturation in Caenorhabditis elegans. Molecular biology of the cell 18 25273556
2023 The autophagic protein FYCO1 controls TNFRSF10/TRAIL receptor induced apoptosis and is inactivated by CASP8 (caspase 8). Autophagy 17 37418591
2005 A role of SAND-family proteins in endocytosis. Biochemical Society transactions 17 16042554
2022 The lysosomal V-ATPase a3 subunit is involved in localization of Mon1-Ccz1, the GEF for Rab7, to secretory lysosomes in osteoclasts. Scientific reports 16 35589873
2021 Sphingomonas sabuli sp. nov., a carotenoid-producing bacterium isolated from beach sand. International journal of systematic and evolutionary microbiology 16 34323678
2020 Identification and evaluation of reliable reference genes for quantitative real-time PCR analysis in tea plants under differential biotic stresses. Scientific reports 15 32051495
2025 Coordination between ESCRT function and Rab conversion during endosome maturation. The EMBO journal 13 39910226
2020 Hexa-Longin domain scaffolds for inter-Rab signalling. Bioinformatics (Oxford, England) 13 31562761
2025 The Genetic Architecture of Congenital Diarrhea and Enteropathy. The New England journal of medicine 10 40174224
2021 Extending the Horizon of Homology Detection with Coevolution-based Structure Prediction. Journal of molecular biology 8 34139218
2016 A fresh look at the function of Rabaptin5 on endosomes. Small GTPases 8 26940354
2012 Mon1a protein acts in trafficking through the secretory apparatus. The Journal of biological chemistry 8 22665492
2024 GORASP2 promotes phagophore closure and autophagosome maturation into autolysosomes. Autophagy 7 39056394
2009 Forward genetics used to identify new gene Mon1a with critical role in controlling macrophage iron metabolism and iron recycling from erythrocytes. Nutrition reviews 5 19785692
2025 Genetic architecture of the red blood cell proteome in genetically diverse mice reveals central role of hemoglobin beta cysteine redox status in maintaining circulating glutathione pools. bioRxiv : the preprint server for biology 3 40093052
2025 Genetic architecture of the murine red blood cell proteome reveals central role of hemoglobin beta cysteine 93 in maintaining redox balance. Cell genomics 3 41265446
2023 Mon1a and FCHO2 are required for maintenance of Golgi architecture. bioRxiv : the preprint server for biology 0 37461455
2013 Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice. Mammalian genome : official journal of the International Mammalian Genome Society 0 24121729

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