MTMR14
entrez
64419
canonical
uniprot
Q8NCE2
canonical
ensembl
ENSG00000163719
resolver
ensp
ENSP00000296003
resolver
ensp
ENSP00000323462
resolver
ensp
ENSP00000334070
resolver
ensp
ENSP00000533628
resolver
ensp
ENSP00000533629
resolver
ensp
ENSP00000533631
resolver
ensp
ENSP00000533632
resolver
ensp
ENSP00000533634
resolver
ensp
ENSP00000628480
resolver
ensp
ENSP00000670334
resolver
ensp
ENSP00000670337
resolver
ensp
ENSP00000670338
resolver
ensp
ENSP00000699114
resolver
genesymbol
MTMR14
resolver
genesymbol_syn
C3orf29
resolver
hgnc
HGNC:26190
resolver
uniprot
Q0JTH5
resolver
uniprot
Q0JU83
resolver
uniprot
Q6PIZ4
resolver
uniprot
Q6QE21
resolver
uniprot
Q86VK9
resolver
uniprot
Q8IYK1
resolver
uniprot
Q8TCM7
resolver
uniprot
Q8WYY9
resolver
uniprot
Q9H6C0
resolver
uniprot_entry
MTMRE_HUMAN
resolver
uniprot_entry
Q8WYY9_HUMAN
resolver
uniprot_sec
Q0JTH5
resolver
uniprot_sec
Q0JU83
resolver
uniprot_sec
Q6PIZ4
resolver
uniprot_sec
Q6QE21
resolver
uniprot_sec
Q86VK9
resolver
uniprot_sec
Q8IYK1
resolver
uniprot_sec
Q8TCM7
resolver
uniprot_sec
Q9H6C0
resolver
amino_acid_sequence
MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKDGSGTGGSKVERIEKRCLELFGRDYCFSVIPNTNGDICGHYPRHIVFLEYESSEKEKDTFESTVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKHICRSATLAGWGELYGRSGYNYFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKYICDLMVENKKVKFGMNVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAPLSIPDFLTHSLNIDWSQYQCWDLVQQTQNYLKLLLSLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWADGLIHTSLKPTEILYLTVAYDWFLFGHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARDGGFTLEDICMLRRKDRGSTTSLGSDFSLVMESSPGATGSFTYEAVELVPAGAPTQAAWRKSHSSSPQSVLWNRPQPSEDRLPSQQGLAEARSSSSSSSNHSDNFFRMGSSPLEVPKPRSVDHPLPGSSLSTDYGSWQMVTGCGSIQERAVLHTDSSLPFSFPDELPNSCLLAALSDRETRLQEVRSAFLAAYSSTVGLRAVAPSPSGAIGGLLEQFARGVGLRSISSNAL
uniprot
proteins
disease_involvement
DISEASE: Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: 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:17008356}. Note=The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356). {ECO:0000269|PubMed:17008356}.
uniprot
proteins
ec_number
3.1.3.95
uniprot
proteins
function
FUNCTION: Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate. {ECO:0000269|PubMed:17008356}.
uniprot
proteins
mass_dalton
72203
uniprot
proteins
mutagenesis
MUTAGEN 330; /note="C->S: Decreased phosphatidylinositol-3-phosphate phosphatase activity."; /evidence="ECO:0000269|PubMed:17008356
uniprot
proteins
protein_family
Non-receptor class myotubularin subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17008356
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
650
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17008356}. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus. {ECO:0000269|PubMed:17008356}.
uniprot
proteins