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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6903724 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 27 figures from 8 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	Myopathy, centronuclear, X-linked	310400

Associated With mtm1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
centronuclear myopathy X-linked	mtm1^zf711/zf711	standard conditions	Volpatti et al., 2022
centronuclear myopathy	AB + MO3-mtm1	standard conditions	Sabha et al., 2016
centronuclear myopathy	WT + MO2-mtm1	standard conditions	Dowling et al., 2009
centronuclear myopathy	WT + MO1-mtm1	standard conditions	Dowling et al., 2009
centronuclear myopathy	mtm1^zf711/zf711 (AB)	standard conditions	Sabha et al., 2016
centronuclear myopathy	WT + MO3-mtm1	standard conditions	Dowling et al., 2009

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR016130	Protein-tyrosine phosphatase, active site
Domain	IPR000387	Tyrosine-specific protein phosphatases domain
Domain	IPR003595	Protein-tyrosine phosphatase, catalytic
Domain	IPR004182	GRAM domain
Domain	IPR010569	Myotubularin-like, phosphatase domain
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR029021	Protein-tyrosine phosphatase-like