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MTMR1 (myotubularin related protein 1)

Identity

Other alias-
HGNC (Hugo) MTMR1
LocusID (NCBI) 8776
Atlas_Id 70555
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 149861837 and ends at 149933397 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DYRK1A (21q22.13) / MTMR1 (Xq28)LASP1 (17q12) / MTMR1 (Xq28)MTMR1 (Xq28) / FATE1 (Xq28)
MTMR1 (Xq28) / HS1BP3 (2p24.1)MTMR1 (Xq28) / ZC3HC1 (7q32.2)NRF1 (7q32.2) / MTMR1 (Xq28)
ZC3HC1 (7q32.2) / MTMR1 (Xq28)MTMR1 FATE1MTMR1 HS1BP3

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)MTMR1   7449
Cards
Entrez_Gene (NCBI)MTMR1  8776  myotubularin related protein 1
Aliases
GeneCards (Weizmann)MTMR1
Ensembl hg19 (Hinxton)ENSG00000063601 [Gene_View]  chrX:149861837-149933397 [Contig_View]  MTMR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000063601 [Gene_View]  chrX:149861837-149933397 [Contig_View]  MTMR1 [Vega]
ICGC DataPortalENSG00000063601
TCGA cBioPortalMTMR1
AceView (NCBI)MTMR1
Genatlas (Paris)MTMR1
WikiGenes8776
SOURCE (Princeton)MTMR1
Genetics Home Reference (NIH)MTMR1
Genomic and cartography
GoldenPath hg19 (UCSC)MTMR1  -     chrX:149861837-149933397 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTMR1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblMTMR1 - Xq28 [CytoView hg19]  MTMR1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIMTMR1 [Mapview hg19]  MTMR1 [Mapview hg38]
OMIM300171   
Gene and transcription
Genbank (Entrez)AA731515 AA748701 AF057354 AJ224979 AK001816
RefSeq transcript (Entrez)NM_001306144 NM_001306145 NM_003828 NM_176789
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012551 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)MTMR1
Cluster EST : UnigeneHs.347187 [ NCBI ]
CGAP (NCI)Hs.347187
Alternative Splicing GalleryENSG00000063601
Gene ExpressionMTMR1 [ NCBI-GEO ]   MTMR1 [ EBI - ARRAY_EXPRESS ]   MTMR1 [ SEEK ]   MTMR1 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8776
GTEX Portal (Tissue expression)MTMR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13613   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13613  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13613
Splice isoforms : SwissVarQ13613
PhosPhoSitePlusQ13613
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)   
Domains : Interpro (EBI)GRAM    MTMR1/MTMR2    Myotubularin-like_Pase_dom    Myotubularin_fam    PH_like_dom    Prot-tyrosine_phosphatase-like    Tyr/Dual-sp_Pase    Tyr_Pase_AS   
Domain families : Pfam (Sanger)GRAM (PF02893)    Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam02893    pfam06602   
Domain families : Smart (EMBL)GRAM (SM00568)  
Conserved Domain (NCBI)MTMR1
DMDM Disease mutations8776
Blocks (Seattle)MTMR1
SuperfamilyQ13613
Human Protein AtlasENSG00000063601
Peptide AtlasQ13613
HPRD02163
IPIIPI00292601   IPI00984142   IPI00902700   IPI01010090   IPI00984739   IPI00643733   IPI00644603   IPI00644012   IPI00647512   IPI00647175   IPI00974126   
Protein Interaction databases
DIP (DOE-UCLA)Q13613
IntAct (EBI)Q13613
FunCoupENSG00000063601
BioGRIDMTMR1
STRING (EMBL)MTMR1
ZODIACMTMR1
Ontologies - Pathways
QuickGOQ13613
Ontology : AmiGOphosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  cytoplasm  cytosol  plasma membrane  phospholipid metabolic process  phosphatidylinositol biosynthetic process  peptidyl-tyrosine dephosphorylation  small molecule metabolic process  phosphatidylinositol dephosphorylation  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
Ontology : EGO-EBIphosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  cytoplasm  cytosol  plasma membrane  phospholipid metabolic process  phosphatidylinositol biosynthetic process  peptidyl-tyrosine dephosphorylation  small molecule metabolic process  phosphatidylinositol dephosphorylation  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
Pathways : KEGGFructose and mannose metabolism   
NDEx NetworkMTMR1
Atlas of Cancer Signalling NetworkMTMR1
Wikipedia pathwaysMTMR1
Orthology - Evolution
OrthoDB8776
GeneTree (enSembl)ENSG00000063601
Phylogenetic Trees/Animal Genes : TreeFamMTMR1
HOVERGENQ13613
HOGENOMQ13613
Homologs : HomoloGeneMTMR1
Homology/Alignments : Family Browser (UCSC)MTMR1
Gene fusions - Rearrangements
Fusion: TCGAMTMR1 FATE1
Fusion: TCGAMTMR1 HS1BP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR1
dbVarMTMR1
ClinVarMTMR1
1000_GenomesMTMR1 
Exome Variant ServerMTMR1
ExAC (Exome Aggregation Consortium)MTMR1 (select the gene name)
Genetic variants : HAPMAP8776
Genomic Variants (DGV)MTMR1 [DGVbeta]
DECIPHER (Syndromes)X:149861837-149933397  ENSG00000063601
CONAN: Copy Number AnalysisMTMR1 
Mutations
ICGC Data PortalMTMR1 
TCGA Data PortalMTMR1 
Broad Tumor PortalMTMR1
OASIS PortalMTMR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MTMR1
DgiDB (Drug Gene Interaction Database)MTMR1
DoCM (Curated mutations)MTMR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR1 (select a term)
intoGenMTMR1
Cancer3DMTMR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300171   
Orphanet
MedgenMTMR1
Genetic Testing Registry MTMR1
NextProtQ13613 [Medical]
TSGene8776
GENETestsMTMR1
Huge Navigator MTMR1 [HugePedia]
snp3D : Map Gene to Disease8776
BioCentury BCIQMTMR1
ClinGenMTMR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8776
Chemical/Pharm GKB GenePA31252
Clinical trialMTMR1
Miscellaneous
canSAR (ICR)MTMR1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR1
EVEXMTMR1
GoPubMedMTMR1
iHOPMTMR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:34:05 CET 2017

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