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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MMRN1
multimerin 1
Chromosome 4 · 4q22.1
NCBI Gene: 22915Ensembl: ENSG00000138722.10HGNC: HGNC:7178UniProt: E7EPG1
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of wound healingprotein bindingpositive regulation of platelet aggregationextracellular matrixParkinson diseaseirritable bowel syndromeLewy body dementiatricuspid valve disease
✦AI Summary

MMRN1 encodes multimerin-1, a large homopolymeric protein with critical roles in hemostasis and cellular adhesion. The protein functions as a carrier for platelet factor V/Va, facilitating storage and stabilization within platelets and regulating thrombin generation upon release 1. MMRN1 serves as a ligand for integrins α-IIb/β-3 and α-V/β-3 on activated platelets and functions in the extracellular matrix to support platelet adhesive functions 1. The protein binds to von Willebrand factor through its A1A2A3 domains under high shear conditions, supporting platelet adhesion at arterial shear rates 1. Beyond hemostasis, MMRN1 marks highly primitive hematopoietic stem cells with enhanced quiescence and regenerative capacity, and its deficiency impairs stem cell self-renewal 2. In pathological contexts, MMRN1 is upregulated in acute myeloid leukemia and marks quiescent leukemic stem cells responsible for disease initiation 2. The protein also promotes renal cell carcinoma progression through AMPK/MMPs pathway activation 3. MMRN1 undergoes O-fucosylation on its EMI domain by POFUT3/POFUT4, which regulates protein secretion through endoplasmic reticulum quality control 4.

Sources cited
1
MMRN1 functions as carrier for platelet factor V/Va, binds von Willebrand factor A1A2A3 domains under shear, and supports platelet adhesion
PMID: 27052467
2
MMRN1 marks primitive hematopoietic stem cells with enhanced self-renewal and quiescent leukemic stem cells in AML
PMID: 41568470
3
MMRN1 promotes renal cell carcinoma progression through AMPK/MMPs pathway activation
PMID: 40583724
4
MMRN1 undergoes O-fucosylation on EMI domain by POFUT3/POFUT4, regulating protein secretion
PMID: 39775168
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Parkinson diseaseOpen Targets
0.37Weak
irritable bowel syndromeOpen Targets
0.26Weak
Lewy body dementiaOpen Targets
0.26Weak
tricuspid valve diseaseOpen Targets
0.17Weak
neurotic disorderOpen Targets
0.16Weak
Abnormality of the skeletal systemOpen Targets
0.14Weak
cancerOpen Targets
0.09Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
thrombocytopenia 7Open Targets
0.07Suggestive
REM sleep behavior disorderOpen Targets
0.07Suggestive
Von Willebrand diseaseOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.07Suggestive
essential thrombocythemiaOpen Targets
0.07Suggestive
thrombocythemia 1Open Targets
0.07Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.07Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.07Suggestive
thrombocytopenia 9Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
F5Protein interaction82%VWFProtein interaction67%ENTPD1Shared pathway25%MMRN2Shared pathway23%ICAM2Shared pathway20%GP9Shared pathway18%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
41%
Heart
36%
Ovary
27%
Brain
27%
Liver
23%
Gene Interaction Network
Click a node to explore
MMRN1F5VWFENTPD1MMRN2ICAM2GP9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q13201
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.70–1.02]
RankingsWhere MMRN1 stands among ~20K protein-coding genes
  • #8,977of 20,598
    Most Researched49
  • #9,935of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedMMRN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multimerin-1 and cancer: a review.
PMID: 35132992
Biosci Rep · 2022
1.00
2
Proteomic profiling of human plasma extracellular vesicles identifies PF4 and C1R as novel biomarker in sarcopenia.
PMID: 39009419
J Cachexia Sarcopenia Muscle · 2024
0.90
3
Single-cell RNA sequencing reveals endothelial cell heterogeneity and Sox18-mediated EndMT in abdominal aortic aneurysm.
PMID: 41041074
Theranostics · 2025
0.80
4
Molecules That Have Rarely Been Studied in Lymphatic Endothelial Cells.
PMID: 39596293
Int J Mol Sci · 2024
0.70
5
Mmrn1 expression defines a novel subset of hematopoietic stem cells and leukemia stem cells with great self-renewal potential.
PMID: 41568470
Haematologica · 2026
0.60