MTM1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
MTM1
, CG2
Protein names and data:
MTM1_HUMAN
, Myotubularin; 3.1.3.64
Lenght: 603 a.a.
Mass: 69932 Da
fasta formatted sequence
Function:
Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis.
Catalytic activity:
1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
Disease:
( OMIM:
300415
310400
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation.
Genetic variants
47 - 47
Missing (in CNMX). VAR_006386
49 - 49
V -> F (in CNMX; greatly reduced binding to PI(3,5)P2; does not translocate to the late endosome following EGF stimulation; shows normal EGFR degradation). VAR_018227
68 - 68
Y -> D (in CNMX). VAR_018228
69 - 69
R -> C (in CNMX; mild; reduced response to PI5P and reduced binding to PI(3,5)P2). VAR_006387
69 - 69
R -> P (in CNMX). VAR_018229
69 - 69
R -> S (in CNMX; severe). VAR_018230
70 - 70
L -> F (in CNMX; mild; reduced binding to PI(3,5)P2). VAR_006388
87 - 87
L -> P (in CNMX; mild; reduced binding to PI(3,5)P2). VAR_006389
157 - 157
E -> K (in CNMX). VAR_018231
179 - 179
P -> S (in CNMX; mild). VAR_009217
180 - 180
N -> K (in CNMX; very mild). VAR_018232
184 - 184
R -> G (in CNMX; severe; loss of activity; abolishes interaction with DES). VAR_006390
184 - 184
R -> L (in CNMX; reduced activity and response to PI5P). VAR_018233
186 - 186
T -> I (in CNMX). VAR_018234
189 - 189
N -> S (in CNMX). VAR_006391
197 - 197
T -> I (in CNMX). VAR_018235
198 - 198
Y -> N (in CNMX; severe). VAR_006392
199 - 199
P -> S (in CNMX). VAR_018236
202 - 202
L -> S (in CNMX; severe). VAR_018237
205 - 205
P -> L (in CNMX; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES). VAR_006393
225 - 225
I -> T (in CNMX; mild). VAR_009218
226 - 226
P -> T (in CNMX). VAR_018238
227 - 227
V -> M (in CNMX). VAR_018239
228 - 228
L -> P (in CNMX). VAR_018240
229 - 229
S -> P (in CNMX; mild). VAR_006394
230 - 230
W -> C (in CNMX). VAR_018241
232 - 232
H -> R (in CNMX). VAR_018242
241 - 241
R -> C (in CNMX; mild to moderate; abolishes interaction with DES). VAR_006395
241 - 241
R -> L (in CNMX; severe; loss of activity). VAR_006396
264 - 264
I -> S (in CNMX; severe). VAR_009219
279 - 279
A -> G (in CNMX). VAR_018243
294 - 294
Missing (in CNMX; mild). VAR_009220
317 - 317
M -> R (in CNMX; mild). VAR_006397
346 - 346
W -> C (in CNMX; mild). VAR_018244
346 - 346
W -> S (in CNMX). VAR_018245
364 - 364
V -> G (in CNMX). VAR_018246
374 - 374
H -> D (in CNMX). VAR_018247
376 - 376
S -> N (in CNMX; dramatic decrease in phosphatase activity). VAR_006398
378 - 378
G -> E (in CNMX). VAR_018248
378 - 378
G -> R (in CNMX; severe; dramatic decrease in phosphatase activity; does not affect EGFR degradation). VAR_006399
387 - 387
S -> Y (in CNMX). VAR_068846
389 - 389
A -> D (in CNMX; severe). VAR_018249
391 - 391
L -> P (in CNMX). VAR_018250
397 - 397
Y -> C (in CNMX; severe; dramatic decrease in phosphatase activity). VAR_006400
402 - 402
G -> A (in CNMX; mild). VAR_006401
402 - 402
G -> R (in CNMX). VAR_018251
402 - 402
G -> V (in CNMX). VAR_018252
404 - 404
E -> K (in CNMX; mild). VAR_006402
406 - 406
L -> P (in CNMX; severe). VAR_006403
411 - 411
W -> C (in CNMX). VAR_018253
420 - 420
S -> SFIQ (in CNMX; severe). VAR_009221
421 - 421
R -> Q (in CNMX; severe; reduced activity and response to PI5P; does not affect interaction with DES). VAR_006404
421 - 421
R -> RFIQ (in CNMX; severe). VAR_006405
431 - 431
D -> N (in CNMX). VAR_006406
433 - 433
D -> N (in CNMX). VAR_006407
444 - 444
C -> Y (in CNMX). VAR_018254
469 - 469
H -> P (in CNMX; loss of activity). VAR_006408
470 - 470
L -> P (in CNMX; severe). VAR_018255
481 - 481
N -> Y (in CNMX; mild). VAR_018256
499 - 499
W -> R (in CNMX; mild). VAR_006409
510 - 510
K -> N (in CNMX; severe). VAR_009222
Database cross-references
UniProt:
Q13496
Ensembl:
ENST00000370396
Ensembl:
ENST00000598147
MIM:
300415
MIM:
310400
neXtProt:
NX_Q13496
Antibodypedia:
Q13496
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.