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MSN (moesin)

Identity

Other namesHEL70
HGNC (Hugo) MSN
LocusID (NCBI) 4478
Atlas_Id 363
Location Xq12
Location_base_pair Starts at 64887511 and ends at 64961793 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
DNA/RNA

Transcription 3879 bp mRNA with a 1733 bp of coding sequence

Protein

Description 576 amino acids, 75 kDa; contains in N-term a globular membrane binding domain (band 4.1 like domain (amino acids 57 to 224), known also as the four-point-one/ezrin/radixin/moesin domai, an alpha helix domain, and in C-term a domain which interact with actin filaments
Expression wide; expressed differentially in microvilli and cell adhesion sites
Function cytoskeleton protein; binds to the plasma membrane and interacts with actin/myosin; role in cell-cell recognition and signaling
Homology Ezrin, radixin, moesin are called the ERM proteins; they are members ofthe band 4.1 superfamily

Implicated in

Entity t(X;2)(q11;p23) --> MSN- ALK
Disease found in a case of ALK+ anaplasic large cell lymphoma
Abnormal Protein 1005 amino acids, 125 kDa; membrane restricted; ;448 N-term amino acid from MSN, containing the band 4.1 like domain and most of the alpha helix domain, fused to the 557 (instead of the usual 562) C-term amino acids from ALK (i.e. the cytoplasmic portion of ALK with the tyrosine kinase domain).
Oncogenesis tyrosine kinase activity.
  

External links

Nomenclature
HGNC (Hugo)MSN   7373
Cards
AtlasMSNID363
Entrez_Gene (NCBI)MSN  4478  moesin
GeneCards (Weizmann)MSN
Ensembl hg19 (Hinxton)ENSG00000147065 [Gene_View]  chrX:64887511-64961793 [Contig_View]  MSN [Vega]
Ensembl hg38 (Hinxton)ENSG00000147065 [Gene_View]  chrX:64887511-64961793 [Contig_View]  MSN [Vega]
ICGC DataPortalENSG00000147065
TCGA cBioPortalMSN
AceView (NCBI)MSN
Genatlas (Paris)MSN
WikiGenes4478
SOURCE (Princeton)MSN
Genomic and cartography
GoldenPath hg19 (UCSC)MSN  -     chrX:64887511-64961793 +  Xq11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MSN  -     Xq11.1   [Description]    (hg38-Dec_2013)
EnsemblMSN - Xq11.1 [CytoView hg19]  MSN - Xq11.1 [CytoView hg38]
Mapping of homologs : NCBIMSN [Mapview hg19]  MSN [Mapview hg38]
OMIM309845   
Gene and transcription
Genbank (Entrez)AK297165 AK308486 AK309354 AK309986 BC001112
RefSeq transcript (Entrez)NM_002444
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012516 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)MSN
Cluster EST : UnigeneHs.713679 [ NCBI ]
CGAP (NCI)Hs.713679
Alternative Splicing : Fast-db (Paris)GSHG0031582
Alternative Splicing GalleryENSG00000147065
Gene ExpressionMSN [ NCBI-GEO ]     MSN [ SEEK ]   MSN [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26038 (Uniprot)
NextProtP26038  [Medical]  [Publications]
With graphics : InterProP26038
Splice isoforms : SwissVarP26038 (Swissvar)
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_41_domain    ERM    ERM_C_dom    Ez/rad/moesin_like    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    Moesin_tail    PH_like_dom    Ubiquitin-rel_dom   
Related proteins : CluSTrP26038
Domain families : Pfam (Sanger)ERM (PF00769)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam00769    pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  
DMDM Disease mutations4478
Blocks (Seattle)P26038
PDB (SRS)1E5W    1EF1    1SGH   
PDB (PDBSum)1E5W    1EF1    1SGH   
PDB (IMB)1E5W    1EF1    1SGH   
PDB (RSDB)1E5W    1EF1    1SGH   
Human Protein AtlasENSG00000147065
Peptide AtlasP26038
HPRD02399
IPIIPI00219365   
Protein Interaction databases
DIP (DOE-UCLA)P26038
IntAct (EBI)P26038
FunCoupENSG00000147065
BioGRIDMSN
IntegromeDBMSN
STRING (EMBL)MSN
Ontologies - Pathways
QuickGOP26038
Ontology : AmiGOuropod  double-stranded RNA binding  actin binding  receptor binding  structural constituent of cytoskeleton  protein binding  extracellular space  nucleus  cytoplasm  cytoskeleton  plasma membrane  microvillus  focal adhesion  focal adhesion  movement of cell or subcellular component  leukocyte cell-cell adhesion  positive regulation of gene expression  basolateral plasma membrane  apical plasma membrane  extrinsic component of membrane  protein kinase binding  membrane to membrane docking  filopodium  microvillus membrane  vesicle  apical part of cell  cell adhesion molecule binding  leukocyte migration  establishment of endothelial barrier  extracellular exosome  cell periphery  blood microparticle  regulation of organelle assembly  positive regulation of protein localization to early endosome  positive regulation of cellular protein catabolic process  regulation of lymphocyte migration  positive regulation of early endosome to late endosome transport  
Ontology : EGO-EBIuropod  double-stranded RNA binding  actin binding  receptor binding  structural constituent of cytoskeleton  protein binding  extracellular space  nucleus  cytoplasm  cytoskeleton  plasma membrane  microvillus  focal adhesion  focal adhesion  movement of cell or subcellular component  leukocyte cell-cell adhesion  positive regulation of gene expression  basolateral plasma membrane  apical plasma membrane  extrinsic component of membrane  protein kinase binding  membrane to membrane docking  filopodium  microvillus membrane  vesicle  apical part of cell  cell adhesion molecule binding  leukocyte migration  establishment of endothelial barrier  extracellular exosome  cell periphery  blood microparticle  regulation of organelle assembly  positive regulation of protein localization to early endosome  positive regulation of cellular protein catabolic process  regulation of lymphocyte migration  positive regulation of early endosome to late endosome transport  
Pathways : KEGGLeukocyte transendothelial migration    Regulation of actin cytoskeleton    Measles    Proteoglycans in cancer   
REACTOMEP26038 [protein]
REACTOME PathwaysREACT_111045 Developmental Biology [pathway]
Protein Interaction DatabaseMSN
DoCM (Curated mutations)MSN
Wikipedia pathwaysMSN
Gene fusion - Rearrangements
Rearrangement : COSMICMSN [Xq12]  -  ALK [2p23.2]  [fusion_421]  [fusion_422]  [fusion_467]
Gene fusion: TCGA
Rearrangement : TICdbMSN [Xq12]  -  ALK [10q25.1]
Polymorphisms : SNP, variants
NCBI Variation ViewerMSN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSN
dbVarMSN
ClinVarMSN
1000_GenomesMSN 
Exome Variant ServerMSN
SNP (GeneSNP Utah)MSN
SNP : HGBaseMSN
Genetic variants : HAPMAPMSN
Genomic Variants (DGV)MSN [DGVbeta]
Mutations
ICGC Data PortalMSN 
TCGA Data PortalMSN 
Tumor PortalMSN
Cancer Gene: CensusMSN 
Somatic Mutations in Cancer : COSMICMSN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:64887511-64961793
CONAN: Copy Number AnalysisMSN 
Mutations and Diseases : HGMDMSN
OMIM309845   
MedgenMSN
NextProtP26038 [Medical]
GENETestsMSN
Disease Genetic AssociationMSN
Huge Navigator MSN [HugePedia]  MSN [HugeCancerGEM]
snp3D : Map Gene to Disease4478
DGIdb (Drug Gene Interaction db)MSN
BioCentury BCIQMSN
General knowledge
Homologs : HomoloGeneMSN
Homology/Alignments : Family Browser (UCSC)MSN
Phylogenetic Trees/Animal Genes : TreeFamMSN
Chemical/Protein Interactions : CTD4478
Chemical/Pharm GKB GenePA31178
Clinical trialMSN
Cancer Resource (Charite)ENSG00000147065
Other databases
Probes
Litterature
PubMed169 Pubmed reference(s) in Entrez
CoreMineMSN
GoPubMedMSN
iHOPMSN

Bibliography

Moesin: a member of the protein 4.1-talin-ezrin family of proteins.
Lankes WT, Furthmayr H
Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (19) : 8297-8301.
PMID 1924289
 
Ezrin is concentrated in the apical microvilli of a wide variety of epithelial cells whereas moesin is found primarily in endothelial cells.
Berryman M, Franck Z, Bretscher A
Journal of cell science. 1993 ; 105 ( Pt 4) : 1025-1043.
PMID 8227193
 
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ Jr, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB
Trends in biochemical sciences. 1998 ; 23 (8) : 281-282.
PMID 9757824
 
Regulation of cortical structure by the ezrin-radixin-moesin protein family.
Bretscher A
Current opinion in cell biology. 1999 ; 11 (1) : 109-116.
PMID 10047517
 
ERM proteins in cell adhesion and membrane dynamics.
Mangeat P, Roy C, Martin M
Trends in cell biology. 1999 ; 9 (5) : 187-192.
PMID 10322453
 
Cortical actin organization: lessons from ERM (ezrin/radixin/moesin) proteins.
Tsukita S, Yonemura S
The Journal of biological chemistry. 1999 ; 274 (49) : 34507-34510.
PMID 10574907
 
Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma.
Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E
Laboratory investigation; a journal of technical methods and pathology. 2001 ; 81 (3) : 419-426.
PMID 11310834
 
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Contributor(s)

Written08-2001Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret, JL
MSN (moesin)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):263-264.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MSNID363.html

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indexed on : Sat Jun 27 15:34:02 CEST 2015

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