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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MZB1 Gene

protein-coding   GIFtS: 46
GCID: GC05M138723

Marginal Zone B And B1 Cell-Specific Protein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Marginal Zone B And B1 Cell-Specific Protein1 2     Proapoptotic Caspase Adapter Protein2 3
PACAP2 3 5     MEDA-72 3
Mesenteric Oestrogen-Dependent Adipose Gene- 71 2     pERp12 3
Plasma Cell-Induced ER Protein 11 2     HSPC1902
Proapoptotic Caspase Adaptor Protein1 2     Caspase-2 Binding Protein2
Mesenteric Estrogen-Dependent Adipose 72 3     Marginal Zone B- And B1-Cell-Specific Protein2
Plasma Cell-Induced Resident Endoplasmic Reticulum Protein2 3     MEDA73
Plasma Cell-Induced Resident ER Protein2 3     MGC295065

External Ids:    HGNC: 301251   Entrez Gene: 512372   Ensembl: ENSG000001704767   OMIM: 6094475   UniProtKB: Q8WU393   

Export aliases for MZB1 gene to outside databases

Previous GC identifer: GC05M133912


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MZB1 Gene: 
MZB1 (marginal zone B and B1 cell-specific protein) is a protein-coding gene. Diseases associated with MZB1 include pheochromocytoma, and gastric cancer. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: MZB1_HUMAN, Q8WU39
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
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MZB1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMZB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MZB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MZB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.2

MZB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MZB1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M138723:  view genomic region     (about GC identifiers)

Start:
138,723,169 bp from pter      End:
138,725,770 bp from pter
Size:
2,602 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MZB1_HUMAN, Q8WU39 (See protein sequence)
Recommended Name: Marginal zone B- and B1-cell-specific protein precursor  
Size: 189 amino acids; 20694 Da
Subunit: 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)
Subcellular location: Isoform 1: Endoplasmic reticulum lumen (By similarity). Secreted
Subcellular location: Isoform 2: Cytoplasm. Note=Diffuse granular localization in the cytoplasm surrounding the
nucleus
Sequence caution: Sequence=AAF36110.1; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: D2IYS0 Q7Z6N2 Q96RL5 Q9P0T3
Alternative splicing: 5 isoforms:  Q8WU39-1   Q8WU39-2   Q8WU39-3   Q8WU39-4   Q8WU39-5   (Major)

Explore the universe of human proteins at neXtProt for MZB1: NX_Q8WU39

Explore proteomics data for MZB1 at MOPED 

Post-translational modifications:

  • UniProtKB: Forms an interchain disulfide bond with IgM monomers (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WU39

  • MZB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MZB1 Protein Expression
    REFSEQ proteins: NP_057543.2  
    ENSEMBL proteins: 
     ENSP00000423205   ENSP00000415420   ENSP00000425850   ENSP00000303920   ENSP00000424481  
     ENSP00000414565   ENSP00000406529  

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    Sino Biological Cell Lysate for MZB1 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IDA11350957
    GO:0005788endoplasmic reticulum lumen ISS--
    GO:0034663endoplasmic reticulum chaperone complex ISS--

    MZB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR021852 DUF3456

    Graphical View of Domain Structure for InterPro Entry Q8WU39

    ProtoNet protein and cluster: Q8WU39

    UniProtKB/Swiss-Prot: MZB1_HUMAN, Q8WU39
    Similarity: Belongs to the MZB1 family


    MZB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MZB1_HUMAN, Q8WU39
    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
    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
    Induction: Down-regulated in primary B-cells early after ligand-stimulated activation. Up-regulated in bacterial
    lipopolysaccharides (LPS)-stimulated peritoneal macrophages

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11350957
         
    MZB1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MZB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/7 Interacting proteins for MZB1 (Q8WU392, 3 ENSP000003039204) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261472 I2D: score=2 
    CASP2P425753, ENSP000003126644I2D: score=1 STRING: ENSP00000312664
    CASP9P552113, ENSP000003302374I2D: score=1 STRING: ENSP00000330237
    PPP2CAP677753I2D: score=1 
    DNAJC10ENSP000002640654STRING: ENSP00000264065
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002642positive regulation of immunoglobulin biosynthetic process ISS--
    GO:0006915apoptotic process IEA--
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0030888regulation of B cell proliferation ISS--
    GO:0033622integrin activation ISS--

    MZB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MZB1

    Search CenterWatch for drugs/clinical trials and news about MZB1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MZB1 gene: 
    NM_016459.3  

    Unigene Cluster for MZB1:

    Marginal zone B and B1 cell-specific protein
    Hs.409563  [show with all ESTs]
    Unigene Representative Sequence: AK292706
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503481(uc003lei.3 uc010jfd.3 uc010jfe.3) ENST00000417694(uc003lej.3)
    ENST00000513389 ENST00000302125 ENST00000503120 ENST00000511979 ENST00000503351
    ENST00000509591 ENST00000412103 ENST00000457570
    miRNA
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    Additional mRNA sequence: 

    AF151024.1 AK292706.1 BC009931.2 BC021275.2 GQ477350.1 

    9 DOTS entries:

    DT.91748382  DT.306618  DT.120840207  DT.97835513  DT.120840218  DT.95146073  DT.100677647  DT.91748380 
    DT.95146070 

    24/96 AceView cDNA sequences (see all 96):

    AA864299 AI920943 AA769445 BE396753 AI203981 BG059363 AI762046 BE267663 
    BC021275 BP366737 BE676870 AA360205 AI203960 AF338109 BC009931 BM452693 
    AA215334 BU601458 AI004279 BX644740 AL698690 BM918456 BX421721 BI833542 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MZB1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MZB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MZB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCACTAC
    MZB1 Expression
    About this image


    See MZB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MZB1

    SOURCE GeneReport for Unigene cluster: Hs.409563

    UniProtKB/Swiss-Prot: MZB1_HUMAN, Q8WU39
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MZB1 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mzb11 , 5 RIKEN cDNA 2010001M09 gene5
    marginal zone B and B1 cell-specific protein 11
    77.66(n)1
    71.81(a)1
      18 (19.19 cM)5
    698161  NM_027222.31  NP_081498.21 
     356472665 
    chicken
    (Gallus gallus)
    Aves LOC1008591891 plasma cell-induced resident endoplasmic reticulum more 59.1(n)
    49.65(a)
      100859189  XM_003642067.1  XP_003642115.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/103 SNPs in MZB1 are shown (see all 103)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1180562911,2
    F--138722758(+) AGCTGG/ATGTCA 1 -- ds50011Minor allele frequency- A:0.06EA 120
    rs1407067501,2
    C--138722773(+) CAGAAC/TTGCTT 1 -- ds50010--------
    rs1850275171,2
    --138722876(+) CCGGGC/TGCGGT 1 -- ds50010--------
    rs1883410051,2
    --138723003(+) AAAATC/TAGCCG 1 -- ds50010--------
    rs1925293511,2
    --138723049(+) AGGAGC/GCTGAG 1 -- ds50010--------
    rs1845084681,2
    --138723059(+) GGTGGG/TAGAAT 1 -- ds50010--------
    rs1384803171,2
    C--138723112(+) CTCCA-/TCCA  
            
    GCCTG
    1 -- ds50010--------
    rs1402867351,2
    C--138723113(+) GCACT-/TCCA  
            
    CCAGC
    1 -- ds50010--------
    rs1383750371,2
    C--138723272(+) GGGTT-/TTATTTGA 1 -- cds10--------
    rs1883104031,2
    --138723371(+) GCTTCA/CTGCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MZB1 (138723169 - 138725770 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MZB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482090CNV Gain20164927
    esv28262CNV Gain19812545

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609447    OMIM disorders: --

    8 diseases for MZB1:    About MalaCards
    pheochromocytoma    gastric cancer    peritonitis    insulin resistance
    obesity    hepatocellular carcinoma    lung cancer    neuronitis


    MZB1 for disorders           About GeneDecksing


    Export disorders for MZB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MZB1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with MZB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel proapoptotic caspase-2- and caspase-9- binding protein. (PubMed id 11350957)1, 2, 3, 9 Bonfoco E.... Cooper N.R. (2001)
    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. (PubMed id 21688198)1, 2, 3 Zhang H.... Sairam M.R. (2011)
    3. MGC29506 gene, frequently down-regulated in intestinal-type gastric cancer, encodes secreted-type protein with conserved cysteine residues. (PubMed id 12792799)1, 2, 9 Katoh M. and Katoh M. (2003)
    4. Integrative array-based approach identifies MZB1 as a frequently methylated putative tumor suppressor in hepatocellular carcinoma. (PubMed id 22573353)1, 3 Matsumura S....Inazawa J. (2012)
    5. Mzb1 protein regulates calcium homeostasis, antibody secretion, and integrin activation in innate-like B cells. (PubMed id 21093319)1, 3 Flach H....Grosschedl R. (2010)
    6. pERp1 is significantly up-regulated during plasma cell differentiation and contributes to the oxidative folding of immunoglobulin. (PubMed id 19805157)1, 2 Shimizu Y.... Hendershot L.M. (2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    9. Expression of mRNA for PACAP and its receptors in intra- and extra-adrenal human pheochromocytomas and their relationship to catecholamine synthesis. (PubMed id 12573802)3, 9 Isobe K....Nakai T. (2003)
    10. MGC29506 induces cell cycle arrest and is downregulate d in gastric cancer. (PubMed id 23434460)1 Xia L....Chen M. (2013)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51237 HGNC: 30125 AceView: PACAP Ensembl:ENSG00000170476 euGenes: HUgn51237
    ECgene: MZB1 H-InvDB: MZB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MZB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MZB1 gene:
    Search GeneIP for patents involving MZB1

    GeneCards and IP:
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