MTMR14 - myotubularin related protein 14 Gene
Also Known as C3orf29
Species: Homo sapiens
About MTMR14
This gene has 13 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 18.3), lymph node (RPKM 17.6) and 25 other tissues.
Summary
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide Phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
MTMR14 Products (36)
| mRNA | Protein | Name |
|---|---|---|
| NM_001077525.3 | NP_001070993.1 | myotubularin-related protein 14 isoform 2 |
| NM_001077526.3 | NP_001070994.1 | myotubularin-related protein 14 isoform 1 |
| NM_001400518.1 | NP_001387447.1 | myotubularin-related protein 14 isoform 4 |
| NM_001400519.1 | NP_001387448.1 | myotubularin-related protein 14 isoform 5 |
| NM_001400520.1 | NP_001387449.1 | myotubularin-related protein 14 isoform 6 |
| NM_001400521.1 | NP_001387450.1 | myotubularin-related protein 14 isoform 7 |
| NM_001400522.1 | NP_001387451.1 | myotubularin-related protein 14 isoform 8 |
| NM_001400523.1 | NP_001387452.1 | myotubularin-related protein 14 isoform 9 |
| NM_001400524.1 | NP_001387453.1 | myotubularin-related protein 14 isoform 10 |
| NM_001400525.1 | NP_001387454.1 | myotubularin-related protein 14 isoform 11 |
| NM_001400526.1 | NP_001387455.1 | myotubularin-related protein 14 isoform 12 |
| NM_001400527.1 | NP_001387456.1 | myotubularin-related protein 14 isoform 13 |
| NM_001400528.1 | NP_001387457.1 | myotubularin-related protein 14 isoform 14 |
| NM_001400529.1 | NP_001387458.1 | myotubularin-related protein 14 isoform 15 |
| NM_001400530.1 | NP_001387459.1 | myotubularin-related protein 14 isoform 16 |
| NM_001400531.1 | NP_001387460.1 | myotubularin-related protein 14 isoform 17 |
| NM_001400532.1 | NP_001387461.1 | myotubularin-related protein 14 isoform 18 |
| NM_001400533.1 | NP_001387462.1 | myotubularin-related protein 14 isoform 19 |
| NM_001400534.1 | NP_001387463.1 | myotubularin-related protein 14 isoform 19 |
| NM_001400535.1 | NP_001387464.1 | myotubularin-related protein 14 isoform 19 |
| NM_001400536.1 | NP_001387465.1 | myotubularin-related protein 14 isoform 20 |
| NM_001400537.1 | NP_001387466.1 | myotubularin-related protein 14 isoform 21 |
| NM_001400538.1 | NP_001387467.1 | myotubularin-related protein 14 isoform 22 |
| NM_001400539.1 | NP_001387468.1 | myotubularin-related protein 14 isoform 23 |
| NM_001400540.1 | NP_001387469.1 | myotubularin-related protein 14 isoform 23 |
| NM_001400541.1 | NP_001387470.1 | myotubularin-related protein 14 isoform 23 |
| NM_001400542.1 | NP_001387471.1 | myotubularin-related protein 14 isoform 23 |
| NM_001400543.1 | NP_001387472.1 | myotubularin-related protein 14 isoform 23 |
| NM_001400544.1 | NP_001387473.1 | myotubularin-related protein 14 isoform 24 |
| NM_001400545.1 | NP_001387474.1 | myotubularin-related protein 14 isoform 25 |
| NM_001400546.1 | NP_001387475.1 | myotubularin-related protein 14 isoform 25 |
| NM_001400547.1 | NP_001387476.1 | myotubularin-related protein 14 isoform 26 |
| NM_001400548.1 | NP_001387477.1 | myotubularin-related protein 14 isoform 26 |
| NM_001400549.1 | NP_001387478.1 | myotubularin-related protein 14 isoform 27 |
| NM_001400550.1 | NP_001387479.1 | myotubularin-related protein 14 isoform 28 |
| NM_022485.5 | NP_071930.2 | myotubularin-related protein 14 isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
IDA
IDA: Inferred from direct assay
|
17008356 | GOA |
| enables phosphatidylinositol-3-phosphate phosphatase activity |
IDA
IDA: Inferred from direct assay
|
17008356 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
17008356 | GOA |
| located in ruffle |
IDA
IDA: Inferred from direct assay
|
17008356 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myotubularin-related protein 14 |
|
MTMR14 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MTMR14 | Q8NCE2 | TP53BP2 | Homo sapiens | Q13625-3 | 25416956 | |
|
Intra
|
MTMR14 | Q8NCE2 | TP53BP2 | Homo sapiens | Q05BL1 | 25910212 | |
|
Intra
|
MTMR14 | Q8NCE2 | TP53BP2 | Homo sapiens | Q05BL1 | 25910212 | |
|
Intra
|
MTMR14 | Q8NCE2 | TP53BP2 | Homo sapiens | Q05BL1 | 25910212 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Centronuclear, 1 |
|
|
| Centronuclear Myopathy |
|
|
| Myopathy |
|
|
| Myopathy, Centronuclear, X-Linked |
|
|
| Rhabdomyolysis-Myalgia Syndrome |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
|
| Ptosis |
|
|
| Myopathy, X-Linked, With Excessive Autophagy |
|
|
| Charcot-Marie-Tooth Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | MTMR14 | VGNC | VGNC:43482 |
| Mus musculus | MTMR14 | MGD | MGI:1916075 |
| Felis catus | MTMR14 | VGNC | VGNC:63655 |
| Rattus norvegicus | MTMR14 | RGD | RGD:1304842 |
| Bos taurus | MTMR14 | VGNC | VGNC:31740 |
| Macaca mulatta | MTMR14 | VGNC | VGNC:75024 |
| Others | MTMR14 | NCBI |