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This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
MTMR7 (Myotubularin Related Protein 7) is a Protein Coding gene. Diseases associated with MTMR7 include Parkinson Disease 20, Early-Onset and Generalized Epilepsy With Febrile Seizures Plus, Type 6. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol phosphate phosphatase activity. An important paralog of this gene is MTMR6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004438 | phosphatidylinositol-3-phosphatase activity | IEA,IBA | 21873635 |
GO:0004725 | protein tyrosine phosphatase activity | TAS,IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016791 | phosphatase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 16787938 |
GO:0005829 | cytosol | TAS | -- |
GO:0012505 | endomembrane system | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
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2 | Inositol phosphate metabolism (KEGG) | ||
3 | PI Metabolism |
.63
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4 | Glycerophospholipid biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006470 | protein dephosphorylation | TAS | 9736772 |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0016311 | dephosphorylation | IEA | -- |
GO:0035335 | peptidyl-tyrosine dephosphorylation | IEA | -- |
GO:0046855 | inositol phosphate dephosphorylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Beta-D-Fructose 2-phosphate |
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L-Sorbose |
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53188-23-1, 87-79-6 |
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N-Acetyl-D-mannosamine 6-phosphate |
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873185-52-5 |
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ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTMR7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MTMR7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MTMR7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mtmr7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MTMR7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MTMR7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MTMR7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtmr7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mtmr7a 30 31 |
|
OneToMany | |
mtmr7b 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3530 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mtm-6 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YMR1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2736687 | CNV | deletion | 23290073 |
esv2762734 | CNV | loss | 21179565 |
esv3543154 | CNV | deletion | 23714750 |
esv3616483 | CNV | loss | 21293372 |
esv4778 | CNV | loss | 18987735 |
esv6536 | OTHER | inversion | 19470904 |
esv8254 | CNV | loss | 19470904 |
nsv1019965 | CNV | gain | 25217958 |
nsv1025469 | CNV | gain | 25217958 |
nsv1073794 | CNV | deletion | 25765185 |
nsv1137349 | CNV | deletion | 24896259 |
nsv396808 | CNV | deletion | 16902084 |
nsv465588 | CNV | loss | 19166990 |
nsv465589 | CNV | loss | 19166990 |
nsv465590 | CNV | loss | 19166990 |
nsv470200 | CNV | loss | 18288195 |
nsv518761 | CNV | loss | 19592680 |
nsv6097 | CNV | insertion | 18451855 |
nsv610675 | CNV | loss | 21841781 |
nsv610676 | CNV | loss | 21841781 |
nsv610677 | CNV | loss | 21841781 |
nsv610678 | CNV | loss | 21841781 |
nsv610679 | CNV | loss | 21841781 |
nsv831245 | CNV | gain | 17160897 |
nsv956050 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
parkinson disease 20, early-onset |
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generalized epilepsy with febrile seizures plus, type 6 |
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generalized epilepsy with febrile seizures plus, type 4 |
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epileptic encephalopathy, early infantile, 53 |
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macrocephaly/autism syndrome |
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