MZB1 marginal zone B and B1 cell specific protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MZB1provided by HGNC
Official Full Name: marginal zone B and B1 cell specific proteinprovided by HGNC
Primary source: HGNC:HGNC:30125
See related: Ensembl:ENSG00000170476 MIM:609447; AllianceGenome:HGNC:30125
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PACAP; pERp1; MEDA-7
Summary: Involved in positive regulation of cell population proliferation. Located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lymph node (RPKM 68.4), urinary bladder (RPKM 65.2) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (139387467..139389913, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (139913564..139916009, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (138723156..138725602, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MZB1 regulates cellular proliferation, mitochondrial dysfunction, and inflammation and targets the PI3K-Akt signaling pathway in acute pancreatitis.
Title: MZB1 regulates cellular proliferation, mitochondrial dysfunction, and inflammation and targets the PI3K-Akt signaling pathway in acute pancreatitis.
MZB1-expressing cells are essential for local immunoglobulin production in chronic rhinosinusitis with nasal polyps.
Title: MZB1-expressing cells are essential for local immunoglobulin production in chronic rhinosinusitis with nasal polyps.
Altered expression of MZB1 in periodontitis: A possible link to disease pathogenesis.
Title: Altered expression of MZB1 in periodontitis: A possible link to disease pathogenesis.
MZB1 targeted by miR-185-5p inhibits the migration of human periodontal ligament cells through NF-kappaB signaling and promotes alveolar bone loss.
Title: MZB1 targeted by miR-185-5p inhibits the migration of human periodontal ligament cells through NF-κB signaling and promotes alveolar bone loss.
High-resolution Crystal Structure of Human pERp1, A Saposin-like Protein Involved in IgA, IgM and Integrin Maturation in the Endoplasmic Reticulum.
Title: High-resolution Crystal Structure of Human pERp1, A Saposin-like Protein Involved in IgA, IgM and Integrin Maturation in the Endoplasmic Reticulum.
Proteomics and functional study reveal marginal zone B and B1 cell specific protein as a candidate marker of multiple myeloma.
Title: Proteomics and functional study reveal marginal zone B and B1 cell specific protein as a candidate marker of multiple myeloma.
COL1A1 and MZB1 as the hub genes influenced the proliferation, invasion, migration and apoptosis of rectum adenocarcinoma cells by weighted correlation network analysis.
Title: COL1A1 and MZB1 as the hub genes influenced the proliferation, invasion, migration and apoptosis of rectum adenocarcinoma cells by weighted correlation network analysis.
Data suggest that marginal zone B and B1 cell specific protein (MZB1) may be a potential therapeutic target in excessive antibody-secreting cells in systemic lupus erythematosus (SLE).
Title: Increase of MZB1 in B cells in systemic lupus erythematosus: proteomic analysis of biopsied lymph nodes.
expression was positively correlated with a high accumulation of CD8(+) tumor-infiltrating lymphocytes in pancreatic ductal adenocarcinoma after neoadjuvant chemoradiotherapy
Title: MZB1 in borderline resectable pancreatic cancer resected after neoadjuvant chemoradiotherapy.
Low MZB1 expression was an independent prognostic factor for recurrence after curative gastrectomy and was associated significantly with increased hematogenous recurrence. MZB1 acts as a suppressor of GC. Low MZB1 expression in the primary GC tissue is predictive of recurrence after curative resection.
Title: Epigenetic suppression of the immunoregulator MZB1 is associated with the malignant phenotype of gastric cancer.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in integrin activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of immunoglobulin production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of B cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of endoplasmic reticulum chaperone complex	IBA Inferred from Biological aspect of Ancestor more info
part_of endoplasmic reticulum chaperone complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum lumen	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: marginal zone B- and B1-cell-specific protein

Names: 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-induced resident endoplasmic reticulum protein; proapoptotic caspase adapter protein; proapoptotic caspase adaptor protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016459.4 → NP_057543.2 marginal zone B- and B1-cell-specific protein precursor

Status: VALIDATED

Source sequence(s)

AC135457, BC021275, BU601458

Consensus CDS

CCDS47273.1

UniProtKB/Swiss-Prot

D2IYS0, Q7Z6N2, Q8WU39, Q96RL5, Q9P0T3

Related

ENSP00000303920.8, ENST00000302125.9

Conserved Domains (1) summary

pfam11938
Location:49 → 172

DUF3456; TLR4 regulator and MIR-interacting MSAP

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

139387467..139389913 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417264.1 → XP_047273220.1 marginal zone B- and B1-cell-specific protein isoform X1

UniProtKB/TrEMBL

B3KQ72

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

139913564..139916009 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352721.1 → XP_054208696.1 marginal zone B- and B1-cell-specific protein isoform X1

UniProtKB/TrEMBL

B3KQ72
XM_054352720.1 → XP_054208695.1 marginal zone B- and B1-cell-specific protein isoform X2