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MN1 (meningioma 1)

Identity

HGNC (Hugo) MN1
Location 22q11-12
Location_base_pair Starts at 26474265 and ends at 26527486 bp from pter ( according to hg18-Mar_2006)  [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]  MN1 [Vega]
AceView (NCBI)MN1
Genatlas (Paris)MN1
euGene (Indiana)4330
SOURCE (Stanford)NM_002430
Gene Expression (Array Express) ENSG00000169184
Genomic and cartography
GoldenPath (UCSC)MN1  -     chr22:26474265-26527486 -  22q11|22q12.1   [Description]    (hg18-Mar_2006)
EnsemblMN1 - 22q11|22q12.1 [CytoView]
Mapping of homologs : NCBIMN1 [Mapview]
OMIM156100   607174   
Gene and transcription
Gene : Genbank (Entrez)BC152905 BC156879 CU013010 CU013298 X82209
Reference sequence (RefSeq transcript) :SRSNM_002430
Reference transcript : EntrezNM_002430
RefSeq genomic : SRSAC_000065 AC_000154 NC_000022 NT_011520 NW_001838745 NW_927628
RefSeq genomic : EntrezAC_000065 AC_000154 NC_000022 NT_011520 NW_001838745 NW_927628
Consensus coding sequences : CCDS NCBIMN1
Cluster EST : UnigeneHs.268515 [ SRS ] Hs.268515 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3382
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ10571 (SRS) Q10571 (Expasy) Q10571 (Uniprot)
With graphics : InterProQ10571
Splice isoforms : VarSplice FASTAQ10571(VarSplice FASTA)
Related proteins : CluSTrQ10571
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Blocks (Seattle)Q10571
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD08862
Protein Interaction databases
DIP (DOE-UCLA)Q10571
IntAct (EBI)Q10571
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMN1
SNP : GeneSNP UtahMN1
SNP : HGBaseMN1
Genetic variants : HAPMAPMN1
Somatic Mutations in Cancer : COSMICMN1 
Translocation Breakpoints in Cancer : TICdbMN1 
Mutations and Diseases : HGMDMN1
Hereditary diseases : OMIM156100    607174   
Hereditary diseases : GENETests156100    607174   
Diseases : Genetic AssociationMN1
General knowledge
Homologs : HomoloGeneMN1
Homology/Alignments : Family Browser UCSCMN1
Phylogenetic Trees/Animal Genes : TreeFamMN1
Chemical/Protein Interactions : CTD4330
Keywords Ontology : AmiGOmolecular_function  cellular_component  biological_process  
Keywords Ontology : EGO-EBImolecular_function  cellular_component  biological_process  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesMN1 Related clones (RZPD - Berlin)
Literature
PubMed19 Pubmed reference(s) in Entrez
PubGeneMN1

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

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indexed on : Sat Feb 6 13:39:25 CET 2010
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