MTM1 - myotubularin 1 Gene

Homo sapiens

Also known as CNM; CNMX; MTMX; XLMTM

Gene ID: 4534 | Gene type: protein coding

About MTM1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,562,653-150,673,143 (from NCBI)

This gene has 26 transcripts (splice variants), 220 orthologues, 13 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 3.7) and 25 other tissues.

Summary

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]

MTM1 Products(4)

mRNA	Protein	Name
NM_000252.3	NP_000243.1	myotubularin isoform 1
NM_001376906.1	NP_001363835.1	myotubularin isoform 2
NM_001376907.1	NP_001363836.1	myotubularin isoform 3
NM_001376908.1	NP_001363837.1	myotubularin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables intermediate filament binding	IDA IDA: Inferred from direct assay	21135508	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	14722070	GOA
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA IDA: Inferred from direct assay	12646134	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA IDA: Inferred from direct assay	10900271	GOA
enables phosphoprotein phosphatase activity	IDA IDA: Inferred from direct assay	9537414	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12847286	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endosome to lysosome transport	IDA IDA: Inferred from direct assay	14722070	GOA
involved in intermediate filament organization	IMP IMP: Inferred from mutant phenotype	21135508	GOA
involved in mitochondrion distribution	IMP IMP: Inferred from mutant phenotype	21135508	GOA
involved in mitochondrion organization	IDA IDA: Inferred from direct assay	21135508	GOA
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	10900271	GOA
involved in protein dephosphorylation	IDA IDA: Inferred from direct assay	9537414	GOA
involved in regulation of vacuole organization	IDA IDA: Inferred from direct assay	14722070	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10900271	GOA
located in filopodium	IDA IDA: Inferred from direct assay	12118066	GOA
located in late endosome	IDA IDA: Inferred from direct assay	14722070	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12118066	GOA
located in ruffle	IDA IDA: Inferred from direct assay	12118066	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTM1 Protein Structure

GRAM

Myotub-related

0
100
200
300
400
500
603 a.a.

Protein Preferred Names

Protein Names

myotubularin

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Respiratory System Disease

Abnormality Of The Respiratory System	Respiration Disorders
Respiratory Tract Diseases

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Polyhydramnios

Myopathy

Muscular Diseases

Myopathies

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Myotubular Myopathy With Abnormal Genital Development

X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome

Xq28 Contiguous Gene Deletion Syndrome

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1	CMT4B1
Cmt4b	Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Disease Type 4b	Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
Charcot-Marie-Tooth Neuropathy, Type 4b1	Charcot-Marie-Tooth Disease, Type 4b
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1	Charcot-Marie-Tooth Disease 4b1
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Peliosis Hepatis

Hepatic Peliosis	Telangiectasis Of Liver
Angiomatosis Of Liver	Ph - [Peliosis Hepatis]
Hepatic Angiomatosis

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Inflammatory Bowel Disease 21

IBD21

Infective Endocarditis

Bacterial Endocarditis	Endocarditis, Infective
Infectious Endocarditis	Endocarditis Infective

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Sensory Peripheral Neuropathy

Sensory Neuropathy	Peripheral Sensory Neuropathy
Hereditary Sensory And Autonomic Neuropathies

Inflammatory Bowel Disease 8

IBD8

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3	CMT4B3
Charcot-Marie-Tooth Disease With Focally Folded Myelin	Charcot-Marie-Tooth Disease 4b3
Charcot-Marie-Tooth Neuropathy Type 4b3

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Endocardium Disease

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

King-Denborough Syndrome

King Denborough Syndrome	King Syndrome
Kousseff Nichols Syndrome	KDS
Noonan Like Contracture Myopathy Hyperpyrexia	Anesthetic-Induced Malignant Hyperpyrexia In Children
Koussef-Nichols Syndrome

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2	CMT4B2
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2	Charcot-Marie-Tooth Neuropathy, Type 4b2
Charcot-Marie-Tooth Neuropathy Type 4b2	Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
Cmt 4b2	Charcot Marie Tooth Disease Type 4b2
Charcot-Marie-Tooth Disease 4b2	Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Central Core Disease Of Muscle

Central Core Disease	Central Core Myopathy
CCD	Cco
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber	Myopathy, Central Core
Shy-Magee Syndrome	Muscle Core Disease
Muscular Central Core Disease	Myopathy, Central Fibrillar
Shy'S Disease	Moderate Multiminicore Disease With Hand Involvement

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB	Charcot-Marie-Tooth Disease Dominant Intermediate B
Di-Cmtb	Cmtdi1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m	Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
CMT2M	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Axonal Type 2m	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Charcot-Marie-Tooth Disease 2m	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
Charcot-Marie-Tooth Disease Axonal Type 2m	Charcot-Marie-Tooth Neuropathy Axonal Type 2m
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B	Charcot-Marie-Tooth Disease, Axonal, Type 2m
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Dentin Caries

Compound Dental Caries	Dental Caries Extending Into Dentine
Dental Caries Extending Into Dentin

Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Hereditary Myopathy With Early Respiratory Failure	Hmerf
Myopathy, Proximal, With Early Respiratory Muscle Involvement	Edstrom Myopathy
Mfm-Titinopathy	MFM9
Mprm	Hereditary Inclusion Body Myopathy With Early Respiratory Failure
Hibm-Erf	Myofibrillar Myopathy-Titinopathy
Myofibrillar Myopathy With Early Respiratory Failure	Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
Myofibrillar Myopathy 9	Myofibrillar Myopathy 9 With Early Respiratory Failure
Autosomal Dominant Distal Myopathy With Early Respiratory Failure	Proximal Myopathy With Early Respiratory Muscle Involvement
Hereditary Proximal Myopathy With Early Respiratory Failure	Admerf
Edström Myopathy	Hmerf-Erf

Muscle Tissue Disease

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j	CMT4J
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
Charcot-Marie-Tooth Disease 4j

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Brachial Plexus Neuritis

Brachial Neuritis

Parsonage-Aldren-Turner Syndrome

Capillary Malformations, Congenital

Familial Multiple Nevi Flammei	Nevi Flammei, Familial Multiple
CMC	Port-Wine Stain
Capillary Malformations	Cmal
Familial Multiple Port-Wine Stains	Capillary Malformation
Capillary Malformations, Congenital, 1, Somatic, Mosaic	Congenital Capillary Malformations
Port-Wine Stain Familial Multiple	Hereditary Capillary Malformations
Capillary Malformations, Hereditary	Capillary Malformations, Congenital, Type 1, Somatic, Mosaic
Strawberry Nevus Of Skin	Naevus Flammeus

Muscular Disease

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypotonia

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08784	MTM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MTM1	VGNC	VGNC:75071
Bos taurus	MTM1	VGNC	VGNC:31735
Felis catus	MTM1	VGNC	VGNC:68343
Mus musculus	MTM1	MGD	MGI:1099452
Canis familiaris	MTM1	VGNC	VGNC:43477
Rattus norvegicus	MTM1	RGD	RGD:1304582