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MN1 (meningioma 1)

Identity

HGNC (Hugo) MN1
LocusID (NCBI) 4330
Location 22q11-12
Location_base_pair Starts at 28144265 and ends at 28197486 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description 2 exons at least, the first being very CG rich and with CAG repeats; spans about 70 kb
Transcription alternate splicing: 4.5 and 8 kb mRNA; coding sequence: 4.0 kb

Protein

Description 1319 and 1342 amino acids; glutamine and prolin rich (may function as transactivation domains)
Expression ubiquitously expressed; high expression in muscle, low otherwise
Function transcriptionnal regulator

Implicated in

Entity t(12;22)(p13;q11) /myeloid malignancies --> MN1-ETV6
Disease M4 ANLL and other myeloid malignancies (MDS ...)
Prognosis yet uncertain; median survival 2yrs
Cytogenetics additional anomalies: +8
Hybrid/Mutated Gene 5' MN1 - 3' ETV6
Abnormal Protein N-term MN1 and most of it, comprising the glutamine/proline rich domain, fused to the DNA binding of ETV6 in C-term; nuclear protein
Oncogenesis may act as an altered transcription factor
  
Entity meningioma (some of them)
  

External links

Nomenclature
HGNC (Hugo)MN1   7180
Entrez_Gene (NCBI)MN1  4330  meningioma (disrupted in balanced translocation) 1
Cards
AtlasMN1
GeneCards (Weizmann)MN1
Ensembl (Hinxton)ENSG00000169184 [Gene_View]  chr22:28144265-28197486 [Contig_View]  MN1 [Vega]
AceView (NCBI)MN1
Genatlas (Paris)MN1
euGene (Indiana)4330
SOURCE (Stanford)NM_002430
Genomic and cartography
GoldenPath (UCSC)MN1  -     chr22:28144265-28197486 -  22q11|22q12.1   [Description]    (hg19-Feb_2009)
EnsemblMN1 - 22q11|22q12.1 [CytoView]
Mapping of homologs : NCBIMN1 [Mapview]
OMIM156100   607174   
Gene and transcription
Genbank (Entrez)BC152905 BC156879 CU013010 CU013298 X82209
RefSeq transcript (SRS)NM_002430
RefSeq transcript (Entrez)NM_002430
RefSeq genomic (SRS)AC_000154 NC_000022 NG_023258 NT_011520 NW_001838745
RefSeq genomic (Entrez)AC_000154 NC_000022 NG_023258 NT_011520 NW_001838745
Consensus coding sequences : CCDS (NCBI)MN1
Cluster EST : UnigeneHs.268515 [ SRS ] Hs.268515 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3382
Alternative Splicing GalleryENSG00000169184
Gene ExpressionMN1 [ NCBI-GEO ]   MN1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ10571 (SRS) Q10571 (Uniprot)
With graphics : InterProQ10571
Splice isoforms : SwissVarQ10571(Swissvar)
Domains : Interpro (SRS)ARM-like   
Domains : Interpro (EBI)ARM-like   
Related proteins : CluSTrQ10571
Domain families : Pfam (SRS)
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Blocks (Seattle)Q10571
Human Protein AtlasENSG00000169184
HPRD08862
IPIIPI00477642   IPI00878359   
Protein Interaction databases
DIP (DOE-UCLA)Q10571
IntAct (EBI)Q10571
FunCoupENSG00000169184
REACTOMEMN1
BioGRIDMN1
InParanoidQ10571
Interologous Interaction database Q10571
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MN1
SNP (GeneSNP Utah)MN1
SNP : HGBaseMN1
Genetic variants : HAPMAPMN1
Cancer Gene: CensusMN1 
Somatic Mutations in Cancer : COSMICMN1 
CONAN: Copy Number AnalysisMN1 
Translocation Breakpoints in Cancer : TICdbMN1 
Mutations and Diseases : HGMDMN1
OMIM156100    607174   
GENETests156100    607174   
Disease Genetic AssociationMN1
Huge Navigator MN1 [HugePedia]  MN1 [HugeCancerGEM]
Genomic VariantsMN1
snp3D : Map Gene to Disease4330
General knowledge
Homologs : HomoloGeneMN1
Homology/Alignments : Family Browser (UCSC)MN1
Phylogenetic Trees/Animal Genes : TreeFamMN1
Chemical/Protein Interactions : CTD4330
Chemical/Pharm GKB GenePA30893
Clinical trialMN1
Cancer Resource (Charite)ENSG00000169184
Ontology : AmiGOintramembranous ossification  molecular_function  binding  cellular_component  biological_process  
Ontology : EGO-EBIintramembranous ossification  molecular_function  binding  cellular_component  biological_process  
Other databases
Probes
Probes : ImagenesMN1 Related clones (RZPD - Berlin)
Litterature
PubMed22 Pubmed reference(s) in Entrez
PubGeneMN1
iHOPMN1

Bibliography

Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.
Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, Riegman P, Lekanne Deprez R, Zwarthoff E, Hagemeijer A
Oncogene. 1995 ; 10 (8) : 1511-1519.
PMID 7731705
 
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.
Lekanne Deprez RH, Riegman PH, Groen NA, Warringa UL, van Biezen NA, Molijn AC, Bootsma D, de Jong PJ, Menon AG, Kley NA
Oncogene. 1995 ; 10 (8) : 1521-1528.
PMID 7731706
 
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.
Lekanne Deprez RH, Riegman PH, Groen NA, Warringa UL, van Biezen NA, Molijn AC, Bootsma D, de Jong PJ, Menon AG, Kley NA
Oncogene. 1995 ; 10 (8) : 1521-1528.
PMID 7731706
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written10-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . MN1 (meningioma 1). Atlas Genet Cytogenet Oncol Haematol. October 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/MN1.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32044/10-1997-MN1.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:02:21 CEST 2012
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