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Gene: MTM1 (myotubularin 1) Homo sapiens
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Symbol: MTM1
Name: myotubularin 1
Description: This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CNM; MTMX; myotubularin; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase; XLMTM
Orthologs:
Mus musculus (house mouse) : Mtm1 (X-linked myotubular myopathy gene 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mtm1 (myotubularin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mtm1 (myotubularin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MTM1 (myotubularin 1)
Canis lupus familiaris (dog) : MTM1 (myotubularin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mtm1 (myotubularin 1)
Sus scrofa (pig) : MTM1 (myotubularin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X150,562,658 - 150,673,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,731,104 - 149,841,616 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,487,727 - 149,592,272 (+)NCBINCBI36hg18NCBI36
Build 34X149,407,636 - 149,512,182NCBI
CeleraX149,984,899 - 150,089,187 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,597,863 - 138,702,094 (+)NCBIHuRef
CHM1_1X149,611,646 - 149,715,992 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on MTM1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1312103
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.