MTM1
entrez
4534
canonical
uniprot
Q13496
canonical
ensembl
ENSG00000171100
resolver
ensp
ENSP00000359423
resolver
ensp
ENSP00000508718
resolver
ensp
ENSP00000508944
resolver
ensp
ENSP00000509809
resolver
ensp
ENSP00000510607
resolver
ensp
ENSP00000536516
resolver
ensp
ENSP00000536517
resolver
ensp
ENSP00000676565
resolver
ensp
ENSP00000716639
resolver
ensp
ENSP00000716640
resolver
enst
ENST00000688403
resolver
enst
ENST00000689314
resolver
enst
ENST00000690282
resolver
enst
ENST00000866458
resolver
genesymbol
MTM1
resolver
genesymbol_syn
CG2
resolver
hgnc
HGNC:7448
resolver
uniprot
A0A8I5KQR6
resolver
uniprot
A0A8I5KZ76
resolver
uniprot
A6NDB1
resolver
uniprot
B7Z491
resolver
uniprot
F2Z330
resolver
uniprot
Q8NEL1
resolver
uniprot_entry
A0A8I5KQR6_HUMAN
resolver
uniprot_entry
A0A8I5KZ76_HUMAN
resolver
uniprot_entry
MTM1_HUMAN
resolver
uniprot_sec
A6NDB1
resolver
uniprot_sec
B7Z491
resolver
uniprot_sec
F2Z330
resolver
uniprot_sec
Q8NEL1
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically activated by phosphatidylinositol 5-phosphate (PI5P). {ECO:0000269|PubMed:12646134}.
uniprot
proteins
amino_acid_sequence
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDAYHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQTHF
uniprot
proteins
disease_involvement
DISEASE: Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269|PubMed:10063835, ECO:0000269|PubMed:10466421, ECO:0000269|PubMed:10502779, ECO:0000269|PubMed:10790201, ECO:0000269|PubMed:11793470, ECO:0000269|PubMed:12031625, ECO:0000269|PubMed:12522554, ECO:0000269|PubMed:12859411, ECO:0000269|PubMed:17005396, ECO:0000269|PubMed:19129059, ECO:0000269|PubMed:23818870, ECO:0000269|PubMed:9285787, ECO:0000269|PubMed:9305655, ECO:0000269|PubMed:9829274}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.95
uniprot
proteins
function
FUNCTION: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:10900271, PubMed:11001925, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870). {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070, ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:23818870, ECO:0000269|PubMed:9537414}.
uniprot
proteins
mass_dalton
69932
uniprot
proteins
mutagenesis
MUTAGEN 114; /note="K->A: Reduced response to PI5P."; /evidence="ECO:0000269|PubMed:12646134"; MUTAGEN 181; /note="H->A: Disrupts interaction with DES. Does not affect lipid phosphatase activity."; /evidence="ECO:0000269|PubMed:21135508"; MUTAGEN 206; /note="Y->A: Disrupts interaction with DES. Does not affect lipid phosphatase activity."; /evidence="ECO:0000269|PubMed:21135508"; MUTAGEN 209; /note="S->A: Disrupts interaction with DES. Does not affect lipid phosphatase activity."; /evidence="ECO:0000269|PubMed:21135508"; MUTAGEN 220; /note="R->A: Loss of activity."; /evidence="ECO:0000269|PubMed:12646134"; MUTAGEN 255; /note="K->A: Disrupts interaction with DES."; /evidence="ECO:0000269|PubMed:21135508"; MUTAGEN 257; /note="D->A: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:12118066"; MUTAGEN 269; /note="K->A: Disrupts interaction with DES. Does not affect lipid phosphatase activity."; /evidence="ECO:0000269|PubMed:21135508"; MUTAGEN 278; /note="D->A: Localizes to plasma membrane extensions. Does not affect interaction with DES."; /evidence="ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:21135508"; MUTAGEN 375; /note="C->A: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:21135508"; MUTAGEN 375; /note="C->S: Lacks activity toward PI3P. Does not affect interaction with DES or MTMR12."; /evidence="ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:23818870"; MUTAGEN 377; /note="D->A: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066"; MUTAGEN 380; /note="D->A: Does not affect interaction with DES."; /evidence="ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:21135508"; MUTAGEN 394; /note="D->A: Produces an unstable protein."; /evidence="ECO:0000269|PubMed:11001925"; MUTAGEN 410; /note="E->A: Produces an unstable protein."; /evidence="ECO:0000269|PubMed:11001925"; MUTAGEN 420; /note="S->D: Does not affect interaction with DES."; /evidence="ECO:0000269|PubMed:21135508"; MUTAGEN 443; /note="D->A: Produces an unstable protein."; /evidence="ECO:0000269|PubMed:11001925"; MUTAGEN 474..603; /note="Missing: Reduces MTMR12 protein levels in myotubes."; /evidence="ECO:0000269|PubMed:23818870
uniprot
proteins
protein_family
Non-receptor class myotubularin subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
10063835
uniprot
proteins
pubmed
10466421
uniprot
proteins
pubmed
10502779
uniprot
proteins
pubmed
10790201
uniprot
proteins
pubmed
10900271
uniprot
proteins
pubmed
11001925
uniprot
proteins
pubmed
11793470
uniprot
proteins
pubmed
12031625
uniprot
proteins
pubmed
12118066
uniprot
proteins
pubmed
12522554
uniprot
proteins
pubmed
12646134
uniprot
proteins
pubmed
12847286
uniprot
proteins
pubmed
12859411
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14722070
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17005396
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19129059
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21135508
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23818870
uniprot
proteins
pubmed
25087613
uniprot
proteins
pubmed
8640223
uniprot
proteins
pubmed
9285787
uniprot
proteins
pubmed
9305655
uniprot
proteins
pubmed
9537414
uniprot
proteins
pubmed
9781038
uniprot
proteins
pubmed
9829274
uniprot
proteins
sequence_length
603
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12847286}. Cell membrane; Peripheral membrane protein {ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12847286}. Cell projection, filopodium {ECO:0000269|PubMed:12118066}. Cell projection, ruffle {ECO:0000269|PubMed:12118066}. Late endosome {ECO:0000269|PubMed:14722070}. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:Q9Z2C5}. Note=Localizes as a dense cytoplasmic network (PubMed:11001925). Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles (PubMed:12118066). Predominantly located in the cytoplasm following interaction with MTMR12 (PubMed:12847286). Recruited to the late endosome following EGF stimulation (PubMed:14722070). In skeletal muscles, co-localizes with MTMR12 in the sarcomere (By similarity). {ECO:0000250|UniProtKB:Q9Z2C5, ECO:0000269|PubMed:11001925, ECO:0000269|PubMed:12118066, ECO:0000269|PubMed:12847286, ECO:0000269|PubMed:14722070}.
uniprot
proteins