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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MZB1
marginal zone B and B1 cell specific protein
Chromosome 5 · 5q31.2
NCBI Gene: 51237Ensembl: ENSG00000170476.16HGNC: HGNC:30125UniProt: B3KQ72
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of immunoglobulin productionregulation of B cell proliferationintegrin activationhypertrophic cardiomyopathyheart failurecardiomyopathyhypothyroidism
✦AI Summary

MZB1 (marginal zone B and B1 cell specific protein) is an endoplasmic reticulum-resident chaperone protein that plays crucial roles in B cell function and immunoglobulin production. Primarily, MZB1 facilitates the assembly and secretion of polymeric IgM and dimeric IgA by interacting with their heavy chain tail pieces 12. The protein undergoes post-translational regulation through citrullination by peptidylarginine deiminase 2 (PAD2), which enhances its interaction with immunoglobulins and promotes IgM/IgA secretion 1. MZB1 is predominantly expressed in plasma cells, marginal zone B cells, and B1 cells, where it serves as a co-chaperone in antibody folding and maintains calcium homeostasis between the ER and cytoplasm 3. Disease relevance includes significant upregulation in chr5 rhinosinusitis with nasal polyps, where MZB1-expressing cells drive local IgE overproduction 4. Conversely, MZB1 deficiency increases colorectal cancer susceptibility through reduced intestinal IgA levels and altered gut microbiota 2. In periodontitis, MZB1 inhibits periodontal ligament cell migration via NF-κB signaling, promoting alveolar bone loss 5. Clinically, MZB1 dysregulation is implicated in multiple pathological conditions including autoimmune diseases, cancer progression, and inflammatory disorders, positioning it as a potential therapeutic target 36.

Sources cited
1
MZB1 is upregulated in chronic rhinosinusitis with nasal polyps and drives local IgE overproduction
PMID: 37852603
2
MZB1 promotes gut IgA secretion and its deficiency increases colorectal cancer susceptibility
PMID: 38101774
3
MZB1 interacts with IgM and IgA heavy chain tail pieces and is regulated by PAD2-mediated citrullination
PMID: 38094295
4
MZB1 inhibits periodontal ligament cell migration through NF-κB signaling and promotes alveolar bone loss
PMID: 35653494
5
MZB1 functions as an ER-resident co-chaperone that regulates calcium homeostasis and has multiple disease associations
PMID: 40738426
6
MZB1 facilitates immunoglobulin assembly and secretion and is implicated in autoimmune diseases and cancer
PMID: 41491308
Disease Associationsⓘ20
hypertrophic cardiomyopathyOpen Targets
0.34Weak
heart failureOpen Targets
0.33Weak
cardiomyopathyOpen Targets
0.16Weak
hypothyroidismOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Suggestive
melanomaOpen Targets
0.09Suggestive
migraine disorderOpen Targets
0.09Suggestive
Parkinson diseaseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
strokeOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
post-traumatic stress disorderOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TNFRSF17Protein interaction100%CD79AProtein interaction100%JCHAINProtein interaction100%POU2AF1Protein interaction100%HSPA5Protein interaction100%DERL3Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
26%
Liver
8%
Heart
1%
Ovary
1%
Brain
1%
Gene Interaction Network
Click a node to explore
MZB1TNFRSF17CD79AJCHAINPOU2AF1HSPA5DERL3
PROTEIN STRUCTURE
Preparing viewer…
PDB7AAH · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.48–1.34]
RankingsWhere MZB1 stands among ~20K protein-coding genes
  • #11,978of 20,598
    Most Researched30
  • #14,000of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedMZB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MZB1-expressing cells are essential for local immunoglobulin production in chronic rhinosinusitis with nasal polyps.
PMID: 37852603
Ann Allergy Asthma Immunol · 2024
1.00
2
MZB1-mediated IgA secretion suppresses the development and progression of colorectal cancer triggered by gut inflammation.
PMID: 38101774
Mucosal Immunol · 2024
0.90
3
Peptidylarginine deiminase 2 citrullinates MZB1 and promotes the secretion of IgM and IgA.
PMID: 38094295
Front Immunol · 2023
0.80
4
MZB1 targeted by miR-185-5p inhibits the migration of human periodontal ligament cells through NF-κB signaling and promotes alveolar bone loss.
PMID: 35653494
J Periodontal Res · 2022
0.70
5
Mzb1 Attenuates Atherosclerotic Plaque Vulnerability in ApoE-/- Mice by Alleviating Apoptosis and Modulating Mitochondrial Function.
PMID: 38294627
J Cardiovasc Transl Res · 2024
0.60