MTM1 (myotubularin 1)

2007-02-01 Affiliation

Identity

HGNC

MTM1

LOCATION

Xq28

LOCUSID

4534

ALIAS

CNM,MTMX,XLMTM

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4534
MIM: 300415
HGNC: 7448
Ensembl: ENSG00000171100

Variants:

dbSNP: 4534
ClinVar: 4534
TCGA: ENSG00000171100
COSMIC: MTM1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171100	ENST00000370396	Q13496
ENSG00000171100	ENST00000370396	A0A024RC06
ENSG00000171100	ENST00000424519	C9J2A2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Inositol phosphate metabolism	KEGG	ko00562
Phosphatidylinositol signaling system	KEGG	ko04070
Inositol phosphate metabolism	KEGG	hsa00562
Phosphatidylinositol signaling system	KEGG	hsa04070
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Phospholipid metabolism	REACTOME	R-HSA-1483257
PI Metabolism	REACTOME	R-HSA-1483255
Synthesis of PIPs at the plasma membrane	REACTOME	R-HSA-1660499
Synthesis of PIPs at the early endosome membrane	REACTOME	R-HSA-1660516
Synthesis of PIPs at the late endosome membrane	REACTOME	R-HSA-1660517

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
8640223	1996	A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.	153
10900271	2000	Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.	115
12391329	2002	The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.	73
11001925	2000	Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.	72
12925573	2003	Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.	68
19846786	2009	T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.	66
18429927	2008	Endosomal phosphoinositides and human diseases.	63
14722070	2004	Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.	59
12646134	2003	Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.	56
14660569	2004	Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.	50

Citation

Dessen P

MTM1 (myotubularin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46298/mtm1