Gene

mtm1

ID
ZDB-GENE-051113-128
Name
myotubularin 1
Symbol
mtm1 Nomenclature History
Previous Names
  • fb19c01
  • im:6903724
  • wu:fb19c01
  • zgc:123266
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphatase activity; and protein tyrosine phosphatase activity. Involved in several processes, including muscle cell cellular homeostasis; skeletal muscle fiber development; and somatic muscle development. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in centronuclear myopathy X-linked and congenital structural myopathy. Is expressed in brain; eye; heart tube; muscle; and skeletal muscle. Orthologous to human MTM1 (myotubularin 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
24 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mtm1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
centronuclear myopathy X-linked Alliance Myotubular myopathy, X-linked 310400
Associated With mtm1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR016130 Protein-tyrosine phosphatase, active site
Domain IPR003595 Protein-tyrosine phosphatase, catalytic
Domain IPR004182 GRAM domain
Domain IPR010569 Myotubularin-like phosphatase domain
Family IPR030561 Myotubularin
Family IPR030564 Myotubularin family
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR029021 Protein-tyrosine phosphatase-like
Domain Details Per Protein
Protein Length GRAM domain Myotubularin Myotubularin family Myotubularin-like phosphatase domain PH-like domain superfamily Protein-tyrosine phosphatase, active site Protein-tyrosine phosphatase, catalytic Protein-tyrosine phosphatase-like
UniProtKB:F8W5H1 639
UniProtKB:Q32PM3 639
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations