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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. MTM1, Myotubularin 1
Sequence ID:NM_000252
RefSeqGene ID:NG_008199
Entrez Gene ID:4534
Ensembl ID:ENSG00000171100

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
MYOTUBULAR MYOPATHY, X-LINKED 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xq28Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 149737058 - 149840159

 Exon Info From UCSC:
NM_000252

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4824189Full LengthBC030779myotubularin 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000243  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000252 NP_000243 Q13496 EC 3.1.3.64 GRAM
Myotub-related

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
U46024 AAC51682 Q13496 EC 3.1.3.64
BC030779 AAH30779 Q13496 EC 3.1.3.64
JF432327 ADZ15544    
AK291710 BAF84399 A8K6P5  
AK297021 BAH12477 B7Z491  
AK297057 BAH12485 B7Z499  
AK304036 BAH14097 B7Z8W1  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MTM1 NP_000243 M.musculus Mtm1 17772 Gene Info NP_064310 92
R.norvegicus Mtm1 288762   NP_001013065 82
C.elegans mtm-1 172148   NP_491531 47

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)