Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MZB1 Gene

Aliases for MZB1 Gene

  • Marginal Zone B And B1 Cell Specific Protein 2 3 5
  • Plasma Cell-Induced Resident Endoplasmic Reticulum Protein 3 4
  • Mesenteric Oestrogen-Dependent Adipose Gene- 7 2 3
  • Mesenteric Estrogen-Dependent Adipose 7 3 4
  • Plasma Cell-Induced Resident ER Protein 3 4
  • Proapoptotic Caspase Adaptor Protein 2 3
  • Proapoptotic Caspase Adapter Protein 3 4
  • Plasma Cell-Induced ER Protein 1 2 3
  • MEDA-7 3 4
  • PACAP 3 4
  • PERp1 3 4
  • Marginal Zone B- And B1-Cell-Specific Protein 3
  • Marginal Zone B And B1 Cell-Specific Protein 2
  • Caspase-2 Binding Protein 3
  • HSPC190 3
  • MEDA7 4

External Ids for MZB1 Gene

Previous GeneCards Identifiers for MZB1 Gene

  • GC05M133912
  • GC05M138723

Summaries for MZB1 Gene

GeneCards Summary for MZB1 Gene

MZB1 (Marginal Zone B And B1 Cell Specific Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for MZB1 Gene

  • Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation.

  • Acts as a hormone-regulated adipokine/proinflammatory cytokine that is implicated in causing chronic inflammation, affecting cellular expansion and blunting insulin response in adipocytes. May have a role in the onset of insulin resistance.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MZB1 Gene

Genomics for MZB1 Gene

Regulatory Elements for MZB1 Gene

Enhancers for MZB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G139413 1.4 Ensembl ENCODE 11.9 -27.0 -26969 6.6 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B YY1 DNAJC18 IGIP RNU5B-4P ECSCR PROB1 MZB1 SLC23A1 PAIP2 LRRTM2 SIL1
GH05G139341 1.2 ENCODE 12.6 +47.8 47767 2.6 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZNF610 KDM3B PURA RPL7P19 SLC23A1 MZB1 PROB1 MATR3 SNORA74A SIL1 ENSG00000222937
GH05G139436 0.9 ENCODE 11.1 -47.3 -47260 1.1 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A BMI1 ZSCAN5C ZNF143 ZNF207 DNAJC18 PROB1 MZB1 SLC23A1 GC05P139410 GC05P139409
GH05G139368 0.7 ENCODE 13.8 +20.8 20775 1.2 BCOR CTCF RAD21 GATA3 ZNF316 ZNF366 SCRT2 ZNF600 MAFK ZNF654 DNAJC18 MZB1 PROB1 PAIP2 SIL1 MATR3 ENSG00000272742 PIR39115
GH05G139422 0.8 ENCODE 11.8 -32.4 -32406 0.2 CTCF RB1 ARID4B KLF17 MAX ZNF2 ZSCAN9 RAD21 ZNF101 RFX5 DNAJC18 RNU5B-4P ECSCR PROB1 MZB1 SLC23A1 PAIP2 SIL1 MATR3 GC05P139409
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MZB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MZB1 Gene

Chromosome:
5
Start:
139,387,480 bp from pter
End:
139,390,081 bp from pter
Size:
2,602 bases
Orientation:
Minus strand

Genomic View for MZB1 Gene

Genes around MZB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MZB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MZB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MZB1 Gene

Proteins for MZB1 Gene

  • Protein details for MZB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU39-MZB1_HUMAN
    Recommended name:
    Marginal zone B- and B1-cell-specific protein
    Protein Accession:
    Q8WU39
    Secondary Accessions:
    • D2IYS0
    • Q7Z6N2
    • Q96RL5
    • Q9P0T3

    Protein attributes for MZB1 Gene

    Size:
    189 amino acids
    Molecular mass:
    20694 Da
    Quaternary structure:
    • Part of the ER chaperone complex, a multi-protein complex in the endoplasmic reticulum containing a large number of molecular chaperones which associates with unassembled incompletely folded immunoglobulin heavy chains (By similarity). Isoform 2 interacts with CASP2 and CASP9. Interacts with HSP90B1 and PDIA3 in a calcium-dependent manner (By similarity).
    SequenceCaution:
    • Sequence=AAF36110.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for MZB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MZB1 Gene

Post-translational modifications for MZB1 Gene

Other Protein References for MZB1 Gene

No data available for DME Specific Peptides for MZB1 Gene

Domains & Families for MZB1 Gene

Protein Domains for MZB1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8WU39

UniProtKB/Swiss-Prot:

MZB1_HUMAN :
  • Belongs to the MZB1 family.
Family:
  • Belongs to the MZB1 family.
genes like me logo Genes that share domains with MZB1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for MZB1 Gene

Function for MZB1 Gene

Molecular function for MZB1 Gene

UniProtKB/Swiss-Prot Function:
Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation.
UniProtKB/Swiss-Prot Function:
Acts as a hormone-regulated adipokine/proinflammatory cytokine that is implicated in causing chronic inflammation, affecting cellular expansion and blunting insulin response in adipocytes. May have a role in the onset of insulin resistance.
UniProtKB/Swiss-Prot Induction:
Down-regulated in primary B-cells early after ligand-stimulated activation. Up-regulated in bacterial lipopolysaccharides (LPS)-stimulated peritoneal macrophages.
genes like me logo Genes that share phenotypes with MZB1: view

Animal Model Products

miRNA for MZB1 Gene

miRTarBase miRNAs that target MZB1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MZB1 Gene

Localization for MZB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MZB1 Gene

Isoform 1: Endoplasmic reticulum lumen. Secreted.
Isoform 2: Cytoplasm. Note=Diffuse granular localization in the cytoplasm surrounding the nucleus (PubMed:11350957).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MZB1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5

Gene Ontology (GO) - Cellular Components for MZB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen ISS --
GO:0034663 endoplasmic reticulum chaperone complex ISS,IEA --
genes like me logo Genes that share ontologies with MZB1: view

Pathways & Interactions for MZB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MZB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002642 positive regulation of immunoglobulin biosynthetic process ISS --
GO:0006915 apoptotic process IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0030888 regulation of B cell proliferation IEA,ISS --
GO:0033622 integrin activation ISS,IEA --
genes like me logo Genes that share ontologies with MZB1: view

No data available for Pathways by source and SIGNOR curated interactions for MZB1 Gene

Drugs & Compounds for MZB1 Gene

No Compound Related Data Available

Transcripts for MZB1 Gene

Unigene Clusters for MZB1 Gene

Marginal zone B and B1 cell-specific protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MZB1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - - -
SP5:
SP6:

Relevant External Links for MZB1 Gene

GeneLoc Exon Structure for
MZB1
ECgene alternative splicing isoforms for
MZB1

Expression for MZB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MZB1 Gene

mRNA differential expression in normal tissues according to GTEx for MZB1 Gene

This gene is overexpressed in Spleen (x15.8), Colon - Transverse (x4.3), and Minor Salivary Gland (x4.2).

Protein differential expression in normal tissues from HIPED for MZB1 Gene

This gene is overexpressed in Oral epithelium (28.0), Tonsil (14.4), and Salivary gland (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MZB1 Gene



Protein tissue co-expression partners for MZB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MZB1 Gene:

MZB1

SOURCE GeneReport for Unigene cluster for MZB1 Gene:

Hs.409563

mRNA Expression by UniProt/SwissProt for MZB1 Gene:

Q8WU39-MZB1_HUMAN
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 subcutaneous fat.

Evidence on tissue expression from TISSUES for MZB1 Gene

  • Blood(4.2)
  • Stomach(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with MZB1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MZB1 Gene

Orthologs for MZB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MZB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MZB1 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia MZB1 34 35
  • 87.65 (n)
cow
(Bos Taurus)
Mammalia MZB1 34 35
  • 81.83 (n)
rat
(Rattus norvegicus)
Mammalia Mzb1 34
  • 78.15 (n)
mouse
(Mus musculus)
Mammalia Mzb1 34 16 35
  • 77.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MZB1 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859189 34
  • 59.1 (n)
MZB1 35
  • 41 (a)
OneToOne
Species where no ortholog for MZB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MZB1 Gene

ENSEMBL:
Gene Tree for MZB1 (if available)
TreeFam:
Gene Tree for MZB1 (if available)

Paralogs for MZB1 Gene

No data available for Paralogs for MZB1 Gene

Variants for MZB1 Gene

Sequence variations from dbSNP and Humsavar for MZB1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000888807 -- 139,387,494(+) TTTTT(C/T)CACAA downstream-variant-500B
rs1001677169 -- 139,388,606(+) ACTGG(A/G)AGGCA intron-variant
rs1002575849 -- 139,391,629(+) TCCCC(A/G)CCCTG downstream-variant-500B, upstream-variant-2KB
rs1002836123 -- 139,388,048(+) TGACC(A/G)TCACG reference, missense
rs1004423034 -- 139,391,234(+) CCTCC(C/T)TCTTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MZB1 Gene

Variant ID Type Subtype PubMed ID
esv28262 CNV gain 19812545
nsv482090 CNV gain 20164927
nsv950410 CNV deletion 24416366

Variation tolerance for MZB1 Gene

Gene Damage Index Score: 1.74; 33.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MZB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MZB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MZB1 Gene

Disorders for MZB1 Gene

Relevant External Links for MZB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MZB1

No disorders were found for MZB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MZB1 Gene

Publications for MZB1 Gene

  1. Characterization of a novel proapoptotic caspase-2- and caspase-9- binding protein. (PMID: 11350957) Bonfoco E. … Cooper N.R. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Novel hormone-regulated genes in visceral adipose tissue: cloning and identification of proinflammatory cytokine-like mouse and human MEDA- 7: implications for obesity, insulin resistance and the metabolic syndrome. (PMID: 21688198) Zhang H. … Sairam M.R. (Diabetologia 2011) 2 3 4 64
  3. MGC29506 gene, frequently down-regulated in intestinal-type gastric cancer, encodes secreted-type protein with conserved cysteine residues. (PMID: 12792799) Katoh M. … Katoh M. (Int. J. Oncol. 2003) 3 4 22 64
  4. Integrative array-based approach identifies MZB1 as a frequently methylated putative tumor suppressor in hepatocellular carcinoma. (PMID: 22573353) Matsumura S. … Inazawa J. (Clin. Cancer Res. 2012) 2 3 64
  5. Mzb1 protein regulates calcium homeostasis, antibody secretion, and integrin activation in innate-like B cells. (PMID: 21093319) Flach H. … Grosschedl R. (Immunity 2010) 2 3 64

Products for MZB1 Gene

Sources for MZB1 Gene

Content
Loading form....