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MTM1 (myotubularin 1)

Identity

Other namesCNM
MTMX
XLMTM
HGNC (Hugo) MTM1
LocusID (NCBI) 4534
Location Xq28
Location_base_pair Starts at 149737047 and ends at 149841616 bp from pter ( according to hg19-Feb_2009)
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)MTM1   7448
Cards
Entrez_Gene (NCBI)MTM1  4534  myotubularin 1
GeneCards (Weizmann)MTM1
Ensembl hg19 (Hinxton)ENSG00000171100 [Gene_View]  chrX:149737047-149841616 [Contig_View]  MTM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171100 [Gene_View]  chrX:149737047-149841616 [Contig_View]  MTM1 [Vega]
ICGC DataPortalENSG00000171100
cBioPortalMTM1
AceView (NCBI)MTM1
Genatlas (Paris)MTM1
WikiGenes4534
SOURCE (Princeton)MTM1
Genomic and cartography
GoldenPath hg19 (UCSC)MTM1  -     chrX:149737047-149841616 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTM1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblMTM1 - Xq28 [CytoView hg19]  MTM1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIMTM1 [Mapview hg19]  MTM1 [Mapview hg38]
OMIM300415   310400   
Gene and transcription
Genbank (Entrez)AK291710 AK297021 AK297057 AK304036 AL832715
RefSeq transcript (Entrez)NM_000252
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008199 NT_011681 NW_001842414 NW_004929448
Consensus coding sequences : CCDS (NCBI)MTM1
Cluster EST : UnigeneHs.655056 [ NCBI ]
CGAP (NCI)Hs.655056
Alternative Splicing : Fast-db (Paris)GSHG0031876
Alternative Splicing GalleryENSG00000171100
Gene ExpressionMTM1 [ NCBI-GEO ]     MTM1 [ SEEK ]   MTM1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13496 (Uniprot)
NextProtQ13496  [Medical]
With graphics : InterProQ13496
Splice isoforms : SwissVarQ13496 (Swissvar)
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)   
Domains : Interpro (EBI)GRAM    Myotubularin-like_Pase_dom    PH_like_dom    Prot-tyrosine_phosphatase-like    Tyr/Dual-sp_Pase    Tyr_Pase_AS   
Related proteins : CluSTrQ13496
Domain families : Pfam (Sanger)GRAM (PF02893)    Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam02893    pfam06602   
Domain families : Smart (EMBL)GRAM (SM00568)  
DMDM Disease mutations4534
Blocks (Seattle)Q13496
Human Protein AtlasENSG00000171100
Peptide AtlasQ13496
HPRD02331
IPIIPI00748788   IPI00645663   IPI01015875   IPI01015541   IPI00639863   
Protein Interaction databases
DIP (DOE-UCLA)Q13496
IntAct (EBI)Q13496
FunCoupENSG00000171100
BioGRIDMTM1
IntegromeDBMTM1
STRING (EMBL)MTM1
Ontologies - Pathways
QuickGOQ13496
Ontology : AmiGOruffle  phosphatidylinositol-3-phosphatase activity  phosphoprotein phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytoplasm  late endosome  cytosol  plasma membrane  protein dephosphorylation  phospholipid metabolic process  phosphatidylinositol biosynthetic process  endosome to lysosome transport  protein transport  intermediate filament binding  filopodium  I band  phosphatidylinositol binding  peptidyl-tyrosine dephosphorylation  regulation of vacuole organization  small molecule metabolic process  intermediate filament organization  muscle cell cellular homeostasis  phosphatidylinositol dephosphorylation  mitochondrion distribution  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  extracellular vesicular exosome  mitochondrion morphogenesis  
Ontology : EGO-EBIruffle  phosphatidylinositol-3-phosphatase activity  phosphoprotein phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytoplasm  late endosome  cytosol  plasma membrane  protein dephosphorylation  phospholipid metabolic process  phosphatidylinositol biosynthetic process  endosome to lysosome transport  protein transport  intermediate filament binding  filopodium  I band  phosphatidylinositol binding  peptidyl-tyrosine dephosphorylation  regulation of vacuole organization  small molecule metabolic process  intermediate filament organization  muscle cell cellular homeostasis  phosphatidylinositol dephosphorylation  mitochondrion distribution  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  extracellular vesicular exosome  mitochondrion morphogenesis  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
Protein Interaction DatabaseMTM1
DoCM (Curated mutations)MTM1
Wikipedia pathwaysMTM1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMTM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTM1
dbVarMTM1
ClinVarMTM1
1000_GenomesMTM1 
Exome Variant ServerMTM1
SNP (GeneSNP Utah)MTM1
SNP : HGBaseMTM1
Genetic variants : HAPMAPMTM1
Genomic VariantsMTM1  MTM1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000171100 
Somatic Mutations in Cancer : COSMICMTM1 
CONAN: Copy Number AnalysisMTM1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:149737047-149841616
Mutations and Diseases : HGMDMTM1
OMIM300415    310400   
MedgenMTM1
NextProtQ13496 [Medical]
GENETestsMTM1
Disease Genetic AssociationMTM1
Huge Navigator MTM1 [HugePedia]  MTM1 [HugeCancerGEM]
snp3D : Map Gene to Disease4534
DGIdb (Drug Gene Interaction db)MTM1
General knowledge
Homologs : HomoloGeneMTM1
Homology/Alignments : Family Browser (UCSC)MTM1
Phylogenetic Trees/Animal Genes : TreeFamMTM1
Chemical/Protein Interactions : CTD4534
Chemical/Pharm GKB GenePA31251
Clinical trialMTM1
Cancer Resource (Charite)ENSG00000171100
Other databases
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
CoreMineMTM1
GoPubMedMTM1
iHOPMTM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:20:37 CET 2014

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