Human Gene MN1 (uc003adj.3) Description and Page Index
  Description: Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.
RefSeq Summary (NM_002430): Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X82209.2, SRR1660809.155500.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMN03465404 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000302326.5/ ENSP00000304956.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr22:28,144,265-28,197,486 Size: 53,222 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr22:28,146,903-28,196,531 Size: 49,629 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:28,144,265-28,197,486)mRNA (may differ from genome)Protein (1320 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MN1_HUMAN
DESCRIPTION: RecName: Full=Probable tumor suppressor protein MN1;
FUNCTION: May play a role in tumor suppression.
TISSUE SPECIFICITY: Ubiquitously expressed. Highest levels in skeletal muscle.
DISEASE: Note=A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with TEL.
DISEASE: Note=Defects in MN1 involved in the development of meningiomas, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MN1.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MN1
CDC HuGE Published Literature: MN1

-  MalaCards Disease Associations
  MalaCards Gene Search: MN1
Diseases sorted by gene-association score: meningioma, familial* (324), mn1 (63), urethral syndrome (6), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.59 RPKM in Muscle - Skeletal
Total median expression: 180.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -481.08955-0.504 Picture PostScript Text
3' UTR -828.352638-0.314 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like

ModBase Predicted Comparative 3D Structure on Q10571
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0001957 intramembranous ossification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0008150 biological_process

Cellular Component:
GO:0005575 cellular_component


-  Descriptions from all associated GenBank mRNAs
  X82209 - Homo sapiens mRNA for MN1 protein.
AK307152 - Homo sapiens cDNA, FLJ97100.
BC152905 - Synthetic construct Homo sapiens clone IMAGE:100016142, MGC:184144 meningioma (disrupted in balanced translocation) 1 (MN1) mRNA, encodes complete protein.
BC156879 - Synthetic construct Homo sapiens clone IMAGE:100062728, MGC:190598 meningioma (disrupted in balanced translocation) 1 (MN1) mRNA, encodes complete protein.
AB527341 - Synthetic construct DNA, clone: pF1KE0073, Homo sapiens MN1 gene for meningioma (disrupted in balanced translocation) 1, without stop codon, in Flexi system.
JD564237 - Sequence 545261 from Patent EP1572962.
JD284486 - Sequence 265510 from Patent EP1572962.
JD490580 - Sequence 471604 from Patent EP1572962.
JD501271 - Sequence 482295 from Patent EP1572962.
JD299454 - Sequence 280478 from Patent EP1572962.
JD482789 - Sequence 463813 from Patent EP1572962.
JD480757 - Sequence 461781 from Patent EP1572962.
JD422181 - Sequence 403205 from Patent EP1572962.
JD525494 - Sequence 506518 from Patent EP1572962.
JD416883 - Sequence 397907 from Patent EP1572962.
JD253558 - Sequence 234582 from Patent EP1572962.
JD301797 - Sequence 282821 from Patent EP1572962.
JD353707 - Sequence 334731 from Patent EP1572962.
JD121706 - Sequence 102730 from Patent EP1572962.
JD507831 - Sequence 488855 from Patent EP1572962.
JD236554 - Sequence 217578 from Patent EP1572962.
JD074031 - Sequence 55055 from Patent EP1572962.
JD454759 - Sequence 435783 from Patent EP1572962.
JD335039 - Sequence 316063 from Patent EP1572962.
JD217884 - Sequence 198908 from Patent EP1572962.
JD421788 - Sequence 402812 from Patent EP1572962.
JD353499 - Sequence 334523 from Patent EP1572962.
JD070952 - Sequence 51976 from Patent EP1572962.
JD343434 - Sequence 324458 from Patent EP1572962.
JD554329 - Sequence 535353 from Patent EP1572962.
JD357887 - Sequence 338911 from Patent EP1572962.
JD113397 - Sequence 94421 from Patent EP1572962.
JD122874 - Sequence 103898 from Patent EP1572962.
JD148939 - Sequence 129963 from Patent EP1572962.
JD226167 - Sequence 207191 from Patent EP1572962.
JD538480 - Sequence 519504 from Patent EP1572962.
JD144154 - Sequence 125178 from Patent EP1572962.
JD080625 - Sequence 61649 from Patent EP1572962.
JD231074 - Sequence 212098 from Patent EP1572962.
JD089616 - Sequence 70640 from Patent EP1572962.
JD210941 - Sequence 191965 from Patent EP1572962.
JD217034 - Sequence 198058 from Patent EP1572962.
JD298425 - Sequence 279449 from Patent EP1572962.
JD522160 - Sequence 503184 from Patent EP1572962.
JD163326 - Sequence 144350 from Patent EP1572962.
JD106163 - Sequence 87187 from Patent EP1572962.
JD039594 - Sequence 20618 from Patent EP1572962.
JD204565 - Sequence 185589 from Patent EP1572962.
JD429784 - Sequence 410808 from Patent EP1572962.
JD285849 - Sequence 266873 from Patent EP1572962.
JD087924 - Sequence 68948 from Patent EP1572962.
JD563423 - Sequence 544447 from Patent EP1572962.
Z70218 - H.sapiens mRNA for MN1 protein (clone ICRFp507I0498).
JD075828 - Sequence 56852 from Patent EP1572962.
JD292046 - Sequence 273070 from Patent EP1572962.
JD390738 - Sequence 371762 from Patent EP1572962.
JD111109 - Sequence 92133 from Patent EP1572962.
JD140559 - Sequence 121583 from Patent EP1572962.
JD440662 - Sequence 421686 from Patent EP1572962.
JD520695 - Sequence 501719 from Patent EP1572962.
JD152377 - Sequence 133401 from Patent EP1572962.
JD391991 - Sequence 373015 from Patent EP1572962.
JD406835 - Sequence 387859 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A9Z1V9, MN1_HUMAN, NM_002430, NP_002421, Q10571
UCSC ID: uc003adj.3
RefSeq Accession: NM_002430
Protein: Q10571 (aka MN1_HUMAN)
CCDS: CCDS42998.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002430.2
exon count: 2CDS single in 3' UTR: no RNA size: 7569
ORF size: 3963CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7526.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.