Protein detail

MTM1

Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (Phosphatidylinositol-3-phosphate phosphatase)

Entry name MTM1	UniProt ID Q13496	EVMP confidence score 0.50
Supporting publications (n) 1	Transmembrane count	Protein classification Disease related genesEnzymesHuman disease related genesMetabolic proteinsPlasma proteinsPotential drug targetsPredicted intracellular proteins

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information10

Protein Names

Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (Phosphatidylinositol-3-phosphate phosphatase)

Protein Class (7)

Disease related genesEnzymesHuman disease related genesMetabolic proteinsPlasma proteinsPotential drug targetsPredicted intracellular proteins

Protein Function (6)

Predicted intracellular proteins
Potential drug targets
Human disease related genes:Musculoskeletal diseases:Muscular diseases
Enzymes
ENZYME proteins:Hydrolases
Disease related genes

Ensembl

ENSG00000171100

Entrez Gene Symbol

MTM1

Gene Description

Myotubularin 1

Chromosome

Position

150568417-150673143

Supporting publications (n)

EVMP confidence score

0.50

Fluorescence & Localization2

Cell SpecificEarly spermatids

Function & Pathway8

Protein Function (6)

Predicted intracellular proteins
Potential drug targets
Human disease related genes:Musculoskeletal diseases:Muscular diseases
Enzymes
ENZYME proteins:Hydrolases
Disease related genes

Cellular Component (8)

Molecular Function (6)

Biological Process (3)

KEGG (3)

Reactome (6)

Canonical Pathways (3)

M5880 Naba ecm affiliated
M5885 Naba matrisome associated
M5889 Naba matrisome

Mediation Categories (3)

Fusion and delivery mediationMetabolism mediationReceptor-signaling mediation

Relations & Evidence8

Ligand-Receptor Signaling (7)

7 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	LOCATE	No	No	No	No	No
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
plasma_membrane	plasma_membrane	UniProt_location	No	No	No	No	No
plasma_membrane	plasma_membrane	OmniPath	No	No	No	No	No

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationSize Exclusion Chromatography	Mass spectrometry	2	32384937 30865381

Sequence, Structure & Domains11

Sequences

Length

603

Mass

69,932

Sequence

MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF

Alternative Products

Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13496-1; Sequence=Displayed; Name=2; IsoId=Q13496-2; Sequence=VSP_056208

Alternative Sequence

78..114; Missing (in isoform 2)

Domain & Motif Annotations

Compositional Bias

1..13; Polar residues; 14..25; Basic and acidic residues

Domain (CC)

The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.

Domain (FT)

29..97; GRAM; 163..538; Myotubularin phosphatase

Region

1..25; Disordered; 579..603; Disordered

Protein Families (2)

Protein-tyrosine phosphatase family
Non-receptor class myotubularin subfamily

Sequence Similarities

Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Clinical Relevance5

Disease Involvement

Disease variant

Antibody (2)

HPA010008 HPA010665

Interaction Protein

ENSG00000136717

Interaction Count

Interaction Dataset

intact_biogrid

Supporting Publications1

PMID	Title	Abstract
38037300	Proteomic profiling of paired human liver homogenate and tissue derived extracellular vesicles.	No abstract available