• Gene id: 51237

Gene Summary

• Gene Symbol: MZB1   Gene   UCSC   Ensembl
• Aliases: MEDA-7, PACAP, pERp1
• Gene name: marginal zone B and B1 cell specific protein
• Alternate names: marginal zone B- and B1-cell-specific protein, HSPC190, caspase-2 binding protein, mesenteric estrogen-dependent adipose 7, mesenteric oestrogen-dependent adipose gene- 7, plasma cell-induced ER protein 1, plasma cell-induced resident ER protein, plasma cell-ind,
• Gene location: 5q31.2 (139389912: 139387466)     Exons: 4     NC_000005.10

Protein Summary

• Protein general information: Q8WU39  
  • Name: Marginal zone B and B1 cell specific protein (Mesenteric estrogen dependent adipose 7) (MEDA 7) (Plasma cell induced resident endoplasmic reticulum protein) (Plasma cell induced resident ER protein) (pERp1) (Proapoptotic caspase adapter protein)
  • Length: 189  
  • Mass: 20694
  • Tissue specificity: Widely expressed with highest levels in adult brain, small intestine and lymphoid tissues such as thymus and spleen. Expression is frequently lower in intestinal-type gastric cancer. In obese patients, more abundant in omental than in
• Sequence:

  MRLSLPLLLLLLGAWAIPGGLGDRAPLTATAPQLDDEEMYSAHMPAHLRCDACRAVAYQMWQNLAKAETKLHTSN
  SGGRRELSELVYTDVLDRSCSRNWQDYGVREVDQVKRLTGPGLSEGPEPSISVMVTGGPWPTRLSRTCLHYLGEF
  GEDQIYEAHQQGRGALEALLCGGPQGACSEKVSATREEL

• Structural information:
  • Interpro: IPR021852  
  • Prosite: PS00014
  • STRING: ENSP00000303920
• Other Databases: GeneCards:  MZB1  Malacards:  MZB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IBA	cellular component
GO:0030888	regulation of B cell proliferation	IBA	biological process
GO:0002642	positive regulation of immunoglobulin biosynthetic process	IBA	biological process
GO:0034663	endoplasmic reticulum chaperone complex	IBA	cellular component
GO:0046626	regulation of insulin receptor signaling pathway	ISS	biological process
GO:0042127	regulation of cell population proliferation	ISS	biological process
GO:0030888	regulation of B cell proliferation	ISS	biological process
GO:0005788	endoplasmic reticulum lumen	ISS	cellular component
GO:0033622	integrin activation	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046626	regulation of insulin receptor signaling pathway	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0030888	regulation of B cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0034663	endoplasmic reticulum chaperone complex	IEA	cellular component
GO:0033622	integrin activation	IEA	biological process
GO:0002642	positive regulation of immunoglobulin biosynthetic process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0002642	positive regulation of immunoglobulin biosynthetic process	ISS	biological process
GO:0034663	endoplasmic reticulum chaperone complex	ISS	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R