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This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MTMR3 (Myotubularin Related Protein 3) is a Protein Coding gene. Diseases associated with MTMR3 include Myopathy, Centronuclear, X-Linked and Charcot-Marie-Tooth Disease, Type 4B3. Among its related pathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004438 | phosphatidylinositol-3-phosphatase activity | IEA,IDA | 10900271 |
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004722 | protein serine/threonine phosphatase activity | IDA | 10733931 |
GO:0004725 | protein tyrosine phosphatase activity | IDA | 10733931 |
GO:0005515 | protein binding | IPI | 26787466 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 10733931 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,IDA | 10733931 |
GO:0019898 | extrinsic component of membrane | IDA | 11676921 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Inositol phosphate metabolism (KEGG) | ||
2 | Metabolism |
.40
|
|
3 | PI Metabolism |
.63
|
|
4 | Autophagy - animal | ||
5 | Cellular Senescence (REACTOME) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006470 | protein dephosphorylation | IDA | 10733931 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0010506 | regulation of autophagy | IBA | 21873635 |
GO:0016236 | macroautophagy | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTMR3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MTMR3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MTMR3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mtmr3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mtmr3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MTMR3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MTMR3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MTMR3 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtmr3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Mtmr3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | MTMR3 (3 of 3) 31 |
|
OneToMany | |
mtmr3 30 31 |
|
OneToMany | |||
MTMR3 (2 of 3) 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3632 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T24A11.1a 32 |
|
|
|
T24A11.1b 32 |
|
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
VAR_035656 | A breast cancer sample | p.Val221Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv760n67 | CNV | gain | 20364138 |
esv2667111 | CNV | deletion | 23128226 |
esv26961 | CNV | loss | 19812545 |
esv2724133 | CNV | deletion | 23290073 |
esv27258 | CNV | gain | 19812545 |
esv2763694 | CNV | loss | 21179565 |
esv3307560 | CNV | mobile element insertion | 20981092 |
esv3331654 | CNV | insertion | 20981092 |
esv3441917 | CNV | insertion | 20981092 |
esv3568352 | CNV | loss | 25503493 |
esv3568353 | CNV | loss | 25503493 |
esv3568355 | CNV | loss | 25503493 |
esv3647549 | CNV | loss | 21293372 |
esv3647550 | CNV | loss | 21293372 |
esv3647551 | CNV | loss | 21293372 |
nsv1058511 | CNV | loss | 25217958 |
nsv1064489 | CNV | loss | 25217958 |
nsv1109464 | CNV | deletion | 24896259 |
nsv1110864 | OTHER | inversion | 24896259 |
nsv3591 | CNV | deletion | 18451855 |
nsv523696 | CNV | gain | 19592680 |
nsv588883 | CNV | loss | 21841781 |
nsv829163 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, x-linked |
|
|
charcot-marie-tooth disease, type 4b3 |
|
|
nephrotic syndrome, type 7 |
|
|
autoimmune glomerulonephritis |
|
|
centronuclear myopathy |
|
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