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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 Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are PI Metabolism and superpathway of inositol phosphate compounds. 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 | -- |
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 | IDA,IEA | 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 | superpathway of inositol phosphate compounds | ||
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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NADP |
|
53-59-8 |
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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 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | MTMR7 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | MTMR7 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Mtmr7 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | MTMR7 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MTMR7 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | MTMR7 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | mtmr7 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | mtmr7a 33 32 |
|
OneToMany | |
mtmr7b 33 |
|
OneToMany | |||
-- 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | CG3530 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | mtm-6 33 |
|
OneToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YMR1 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000017661 | -- | 17,409,318(-) | G/C | genic_upstream_transcript_variant, intron_variant | |
rs1000027250 | -- | 17,363,785(-) | C/G/T | genic_upstream_transcript_variant, intron_variant | |
rs1000031599 | -- | 17,302,096(-) | G/A | intron_variant | |
rs1000033426 | -- | 17,307,212(-) | A/G | intron_variant | |
rs1000055281 | -- | 17,323,477(-) | C/T | intron_variant |
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 |
---|---|---|
generalized epilepsy with febrile seizures plus |
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