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Protein

Marginal zone B- and B1-cell-specific protein

Gene

MZB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 Ca2+ stores, antibody secretion and integrin activation.By similarity2 Publications
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.

GO - Biological processi

Keywordsi

Biological processApoptosis

Names & Taxonomyi

Protein namesi
Recommended name:
Marginal zone B- and B1-cell-specific protein
Alternative name(s):
Mesenteric estrogen-dependent adipose 7
Short name:
MEDA-7
Plasma cell-induced resident endoplasmic reticulum protein
Short name:
Plasma cell-induced resident ER protein
Short name:
pERp1
Proapoptotic caspase adapter protein
Gene namesi
Name:MZB1
Synonyms:MEDA7, PACAP
ORF Names:HSPC190
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000170476.15.
HGNCiHGNC:30125. MZB1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Secreted

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi50C → S: Does not affect activity. 1 Publication1
Mutagenesisi53C → S: No significant activity. 1 Publication1
Mutagenesisi95C → S: No significant activity. 1 Publication1
Mutagenesisi143C → S: No significant activity. 1 Publication1
Mutagenesisi171C → S: No significant activity. 1 Publication1
Mutagenesisi178C → S: Does not affect activity. 1 Publication1

Organism-specific databases

DisGeNETi51237.
OpenTargetsiENSG00000170476.

Polymorphism and mutation databases

BioMutaiMZB1.
DMDMi74730663.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000031874023 – 189Marginal zone B- and B1-cell-specific proteinAdd BLAST167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi50 ↔ 178By similarity
Disulfide bondi53 ↔ 171By similarity
Disulfide bondi95 ↔ 143By similarity

Post-translational modificationi

Forms an interchain disulfide bond with IgM monomers.By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiQ8WU39.
PaxDbiQ8WU39.
PeptideAtlasiQ8WU39.
PRIDEiQ8WU39.

PTM databases

iPTMnetiQ8WU39.
PhosphoSitePlusiQ8WU39.

Expressioni

Tissue specificityi

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.3 Publications

Inductioni

Down-regulated in primary B-cells early after ligand-stimulated activation. Up-regulated in bacterial lipopolysaccharides (LPS)-stimulated peritoneal macrophages.2 Publications

Gene expression databases

BgeeiENSG00000170476.
ExpressionAtlasiQ8WU39. baseline and differential.
GenevisibleiQ8WU39. HS.

Organism-specific databases

HPAiHPA043745.
HPA052694.

Interactioni

Subunit structurei

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).By similarity

Protein-protein interaction databases

BioGridi119399. 2 interactors.
IntActiQ8WU39. 1 interactor.
MINTiMINT-197959.
STRINGi9606.ENSP00000303920.

Structurei

3D structure databases

ProteinModelPortaliQ8WU39.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi186 – 189Prevents secretion from ERPROSITE-ProRule annotation4

Sequence similaritiesi

Belongs to the MZB1 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410J06F. Eukaryota.
ENOG4111YKY. LUCA.
GeneTreeiENSGT00390000002716.
HOGENOMiHOG000068171.
HOVERGENiHBG108230.
InParanoidiQ8WU39.
OMAiEKYSAHM.
OrthoDBiEOG091G1197.
PhylomeDBiQ8WU39.

Family and domain databases

InterProiView protein in InterPro
IPR021852. DUF3456.
PfamiView protein in Pfam
PF11938. DUF3456. 1 hit.
PROSITEiView protein in PROSITE
PS00014. ER_TARGET. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WU39-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRLSLPLLLL LLGAWAIPGG LGDRAPLTAT APQLDDEEMY SAHMPAHLRC
60 70 80 90 100
DACRAVAYQM WQNLAKAETK LHTSNSGGRR ELSELVYTDV LDRSCSRNWQ
110 120 130 140 150
DYGVREVDQV KRLTGPGLSE GPEPSISVMV TGGPWPTRLS RTCLHYLGEF
160 170 180
GEDQIYEAHQ QGRGALEALL CGGPQGACSE KVSATREEL
Note: Major.
Length:189
Mass (Da):20,694
Last modified:March 1, 2002 - v1
Checksum:iC71AED212D3393D3
GO
Isoform 2 (identifier: Q8WU39-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-189: MWQNLAKAET...EKVSATREEL → SLLVPDVAKS...PSETSHRPRT

Show »
Length:123
Mass (Da):13,066
Checksum:iC21A354CE08A95CB
GO
Isoform 3 (identifier: Q8WU39-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.
     93-101: RSCSRNWQD → MPAELWLTS

Show »
Length:97
Mass (Da):10,488
Checksum:i8BA52E533824C02C
GO
Isoform 4 (identifier: Q8WU39-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-75: MWQNLAKAETKLHTSN → RLCSYPPHLPLTEQQS
     76-189: Missing.

Show »
Length:75
Mass (Da):8,227
Checksum:iC43C7E99CF029FF8
GO
Isoform 5 (identifier: Q8WU39-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     60-62: MWQ → AHP
     63-189: Missing.

Show »
Length:62
Mass (Da):6,681
Checksum:i7E1F097F7B9F33F4
GO

Sequence cautioni

The sequence AAF36110 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0312801 – 92Missing in isoform 3. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_03128160 – 189MWQNL…TREEL → SLLVPDVAKSGKGRDQTSYL KLWGAAGAERVGLHGCPGPE LLPELAGLRSSRSGPSETSH RPRT in isoform 2. 1 PublicationAdd BLAST130
Alternative sequenceiVSP_03833360 – 75MWQNL…LHTSN → RLCSYPPHLPLTEQQS in isoform 4. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_03907360 – 62MWQ → AHP in isoform 5. 1 Publication3
Alternative sequenceiVSP_03907463 – 189Missing in isoform 5. 1 PublicationAdd BLAST127
Alternative sequenceiVSP_03833476 – 189Missing in isoform 4. 1 PublicationAdd BLAST114
Alternative sequenceiVSP_03833293 – 101RSCSRNWQD → MPAELWLTS in isoform 3. 1 Publication9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF338109 mRNA. Translation: AAK84085.1.
AF151024 mRNA. Translation: AAF36110.1. Sequence problems.
BP366737 mRNA. No translation available.
GQ477350 mRNA. Translation: ACY74343.1.
AK292706 mRNA. Translation: BAF85395.1.
AL698690 mRNA. No translation available.
AC135457 Genomic DNA. No translation available.
BC009931 mRNA. Translation: AAH09931.2.
BC021275 mRNA. Translation: AAH21275.1.
CCDSiCCDS47273.1. [Q8WU39-1]
RefSeqiNP_057543.2. NM_016459.3. [Q8WU39-1]
UniGeneiHs.409563.

Genome annotation databases

EnsembliENST00000302125; ENSP00000303920; ENSG00000170476. [Q8WU39-1]
ENST00000417694; ENSP00000415420; ENSG00000170476. [Q8WU39-4]
ENST00000503481; ENSP00000423205; ENSG00000170476. [Q8WU39-2]
GeneIDi51237.
KEGGihsa:51237.
UCSCiuc003lei.4. human. [Q8WU39-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMZB1_HUMAN
AccessioniPrimary (citable) accession number: Q8WU39
Secondary accession number(s): D2IYS0
, Q7Z6N2, Q96RL5, Q9P0T3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 1, 2002
Last modified: September 27, 2017
This is version 104 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families