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MZB1 (marginal zone B and B1 cell specific protein)

Identity

Alias_namesmarginal zone B and B1 cell-specific protein
Alias_symbol (synonym)PACAP
MGC29506
HSPC190
pERp1
MEDA-7
Other alias
HGNC (Hugo) MZB1
LocusID (NCBI) 51237
Atlas_Id 51804
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 139387568 and ends at 139389916 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACTN4 (19q13.2) / MZB1 (5q31.2)DENND3 (8q24.3) / MZB1 (5q31.2)MZB1 (5q31.2) / ACTN4 (19q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MZB1   30125
Cards
Entrez_Gene (NCBI)MZB1  51237  marginal zone B and B1 cell specific protein
AliasesMEDA-7; PACAP; pERp1
GeneCards (Weizmann)MZB1
Ensembl hg19 (Hinxton)ENSG00000170476 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170476 [Gene_View]  chr5:139387568-139389916 [Contig_View]  MZB1 [Vega]
ICGC DataPortalENSG00000170476
TCGA cBioPortalMZB1
AceView (NCBI)MZB1
Genatlas (Paris)MZB1
WikiGenes51237
SOURCE (Princeton)MZB1
Genetics Home Reference (NIH)MZB1
Genomic and cartography
GoldenPath hg38 (UCSC)MZB1  -     chr5:139387568-139389916 -  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MZB1  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblMZB1 - 5q31.2 [CytoView hg19]  MZB1 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIMZB1 [Mapview hg19]  MZB1 [Mapview hg38]
OMIM609447   
Gene and transcription
Genbank (Entrez)AA837360 AF151024 AF338109 AK057549 AK292706
RefSeq transcript (Entrez)NM_016459
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MZB1
Cluster EST : UnigeneHs.409563 [ NCBI ]
CGAP (NCI)Hs.409563
Alternative Splicing GalleryENSG00000170476
Gene ExpressionMZB1 [ NCBI-GEO ]   MZB1 [ EBI - ARRAY_EXPRESS ]   MZB1 [ SEEK ]   MZB1 [ MEM ]
Gene Expression Viewer (FireBrowse)MZB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51237
GTEX Portal (Tissue expression)MZB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WU39   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WU39  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WU39
Splice isoforms : SwissVarQ8WU39
PhosPhoSitePlusQ8WU39
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)DUF3456   
Domain families : Pfam (Sanger)DUF3456 (PF11938)   
Domain families : Pfam (NCBI)pfam11938   
Conserved Domain (NCBI)MZB1
DMDM Disease mutations51237
Blocks (Seattle)MZB1
SuperfamilyQ8WU39
Human Protein AtlasENSG00000170476
Peptide AtlasQ8WU39
HPRD17815
IPIIPI00102821   IPI00382735   IPI00885163   IPI00952710   IPI00966819   IPI00967080   
Protein Interaction databases
DIP (DOE-UCLA)Q8WU39
IntAct (EBI)Q8WU39
FunCoupENSG00000170476
BioGRIDMZB1
STRING (EMBL)MZB1
ZODIACMZB1
Ontologies - Pathways
QuickGOQ8WU39
Ontology : AmiGOpositive regulation of immunoglobulin biosynthetic process  extracellular region  endoplasmic reticulum lumen  apoptotic process  positive regulation of cell proliferation  regulation of B cell proliferation  integrin activation  endoplasmic reticulum chaperone complex  regulation of cell proliferation  negative regulation of glucose import in response to insulin stimulus  
Ontology : EGO-EBIpositive regulation of immunoglobulin biosynthetic process  extracellular region  endoplasmic reticulum lumen  apoptotic process  positive regulation of cell proliferation  regulation of B cell proliferation  integrin activation  endoplasmic reticulum chaperone complex  regulation of cell proliferation  negative regulation of glucose import in response to insulin stimulus  
NDEx NetworkMZB1
Atlas of Cancer Signalling NetworkMZB1
Wikipedia pathwaysMZB1
Orthology - Evolution
OrthoDB51237
GeneTree (enSembl)ENSG00000170476
Phylogenetic Trees/Animal Genes : TreeFamMZB1
HOVERGENQ8WU39
HOGENOMQ8WU39
Homologs : HomoloGeneMZB1
Homology/Alignments : Family Browser (UCSC)MZB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMZB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MZB1
dbVarMZB1
ClinVarMZB1
1000_GenomesMZB1 
Exome Variant ServerMZB1
ExAC (Exome Aggregation Consortium)MZB1 (select the gene name)
Genetic variants : HAPMAP51237
Genomic Variants (DGV)MZB1 [DGVbeta]
DECIPHERMZB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMZB1 
Mutations
ICGC Data PortalMZB1 
TCGA Data PortalMZB1 
Broad Tumor PortalMZB1
OASIS PortalMZB1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMZB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MZB1
DgiDB (Drug Gene Interaction Database)MZB1
DoCM (Curated mutations)MZB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MZB1 (select a term)
intoGenMZB1
Cancer3DMZB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609447   
Orphanet
MedgenMZB1
Genetic Testing Registry MZB1
NextProtQ8WU39 [Medical]
TSGene51237
GENETestsMZB1
Target ValidationMZB1
Huge Navigator MZB1 [HugePedia]
snp3D : Map Gene to Disease51237
BioCentury BCIQMZB1
ClinGenMZB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51237
Chemical/Pharm GKB GenePA128394656
Clinical trialMZB1
Miscellaneous
canSAR (ICR)MZB1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMZB1
EVEXMZB1
GoPubMedMZB1
iHOPMZB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:08:34 CEST 2017

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