Human Gene MZB1 (ENST00000302125.9) from GENCODE V44
  Description: Homo sapiens marginal zone B and B1 cell specific protein (MZB1), mRNA. (from RefSeq NM_016459)
Gencode Transcript: ENST00000302125.9
Gencode Gene: ENSG00000170476.16
Transcript (Including UTRs)
   Position: hg38 chr5:139,387,467-139,389,913 Size: 2,447 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr5:139,387,765-139,389,856 Size: 2,092 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:139,387,467-139,389,913)mRNA (may differ from genome)Protein (189 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PERP1_HUMAN
DESCRIPTION: RecName: Full=Plasma cell-induced resident endoplasmic reticulum protein; Short=Plasma cell-induced resident ER protein; Short=pERp1; AltName: Full=Proapoptotic caspase adapter protein; Flags: Precursor;
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.
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.
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum (By similarity).
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Diffuse granular localization in the cytoplasm surrounding the nucleus.
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.
INDUCTION: Down-regulated in primary B-cells early after ligand- stimulated activation.
PTM: Forms an interchain disulfide bond with IgM monomers (By similarity).
SIMILARITY: Belongs to the PERP1 family.
SEQUENCE CAUTION: Sequence=AAF36110.1; Type=Erroneous translation; Note=Wrong choice of frame;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 105.14 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 314.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.2057-0.126 Picture PostScript Text
3' UTR -98.80298-0.332 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021852 - DUF3456

Pfam Domains:
PF11938 - TLR4 regulator and MIR-interacting MSAP

ModBase Predicted Comparative 3D Structure on Q8WU39
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0002642 positive regulation of immunoglobulin biosynthetic process
GO:0006915 apoptotic process
GO:0008284 positive regulation of cell proliferation
GO:0030888 regulation of B cell proliferation
GO:0033622 integrin activation
GO:0042127 regulation of cell proliferation
GO:2001274 negative regulation of glucose import in response to insulin stimulus

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0034663 endoplasmic reticulum chaperone complex


-  Descriptions from all associated GenBank mRNAs
  AK292706 - Homo sapiens cDNA FLJ75965 complete cds, highly similar to Homo sapiens proapoptotic caspase adaptor protein, mRNA.
AF151024 - Homo sapiens HSPC190 mRNA, complete cds.
AF338109 - Homo sapiens proapoptotic caspase adaptor protein mRNA, complete cds.
JD103160 - Sequence 84184 from Patent EP1572962.
BC009931 - Homo sapiens hypothetical protein MGC29506, mRNA (cDNA clone MGC:890 IMAGE:2989349), complete cds.
BC021275 - Homo sapiens hypothetical protein MGC29506, mRNA (cDNA clone MGC:29506 IMAGE:4853250), complete cds.
AK057549 - Homo sapiens cDNA FLJ32987 fis, clone THYMU1000032.
GQ477350 - Homo sapiens plasma cell-induced ER protein 1 mRNA, complete cds.
DQ892627 - Synthetic construct clone IMAGE:100005257; FLH188435.01X; RZPDo839C0473D proapoptotic caspase adaptor protein (PACAP) gene, encodes complete protein.
KJ893857 - Synthetic construct Homo sapiens clone ccsbBroadEn_03251 MZB1 gene, encodes complete protein.
EU176703 - Synthetic construct Homo sapiens clone IMAGE:100011503; FLH188434.01L; RZPDo839B07255D hypothetical protein MGC29506 (MGC29506) gene, encodes complete protein.
JD118176 - Sequence 99200 from Patent EP1572962.
JD114248 - Sequence 95272 from Patent EP1572962.
JD053712 - Sequence 34736 from Patent EP1572962.
JD203325 - Sequence 184349 from Patent EP1572962.
JD227232 - Sequence 208256 from Patent EP1572962.
JD139499 - Sequence 120523 from Patent EP1572962.
JD504705 - Sequence 485729 from Patent EP1572962.
JD353633 - Sequence 334657 from Patent EP1572962.
JD500153 - Sequence 481177 from Patent EP1572962.
JD535158 - Sequence 516182 from Patent EP1572962.
JD135140 - Sequence 116164 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D2IYS0, ENST00000302125.1, ENST00000302125.2, ENST00000302125.3, ENST00000302125.4, ENST00000302125.5, ENST00000302125.6, ENST00000302125.7, ENST00000302125.8, HSPC190, NM_016459, PACAP, PERP1_HUMAN, Q7Z6N2, Q8WU39, Q96RL5, Q9P0T3, uc003lei.1, uc003lei.2, uc003lei.3, uc003lei.4, uc003lei.5
UCSC ID: ENST00000302125.9
RefSeq Accession: NM_016459
Protein: Q8WU39 (aka PERP1_HUMAN)
CCDS: CCDS47273.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.