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Gene: MTM1 (myotubularin 1) Homo sapiens
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Symbol: MTM1
Name: myotubularin 1
Description: Exhibits intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in several processes, including dephosphorylation; intermediate filament organization; and mitochondrion morphogenesis. Localizes to several cellular components, including the filopodium; late endosome; and ruffle. Implicated in centronuclear myopathy X-linked and congenital structural myopathy.
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)
Chlorocebus sabaeus (African green monkey) : MTM1 (myotubularin 1)
Heterocephalus glaber (naked mole-rat) : Mtm1 (myotubularin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX150,568,619 - 150,673,322 (+)Ensembl
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
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

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

RGD Object Information
RGD ID: 1312103
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-02-18
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.