• Gene id: 8776

Gene Summary

• Gene Symbol: MTMR1   Gene   UCSC   Ensembl
• Gene name: myotubularin related protein 1
• Alternate names: myotubularin-related protein 1, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase,
• Gene location: Xq28 (150692961: 150765107)     Exons: 23     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological
• OMIM: 616810

Protein Summary

• Protein general information: Q13613  
  • Name: Myotubularin related protein 1 (Phosphatidylinositol 3,5 bisphosphate 3 phosphatase) (EC 3.1.3.95) (Phosphatidylinositol 3 phosphate phosphatase) (EC 3.1.3.64)
  • Length: 665  
  • Mass: 74678
• Sequence:

  MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVT
  SENVSRDYKALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVP
  LGVISRVEKIGAQSHGDNSCGIEIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPIN
  GWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQA
  TITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYESESAYPNAELVFLEIH
  NIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTS
  LAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELF
  LITILDHLYSCLFGTFLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNY
  YVRWNPRMRPQMPIHQNLKELLAVRAELQKRVEGLQREVATRAVSSSSERGSSPSHSATSVHTSV

• Structural information:
  • Protein Domains: (90..16-)
    (/note="GRAM-)
    (226..60-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR004182  IPR030587  IPR037857  IPR010569  IPR030564   IPR011993  IPR029021  IPR016130  IPR003595  IPR000387  
  • Prosite: PS51339 PS00383 PS50056
  • CDD: cd13358
  • PDB: 5C16
  • PDBsum: 5C16
  • STRING: ENSP00000359417
• Other Databases: GeneCards:  MTMR1  Malacards:  MTMR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0016311	dephosphorylation	IEA	biological process
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0052866	phosphatidylinositol phosphate phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0052629	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA	molecular function
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0060304	regulation of phosphatidylinositol dephosphorylation	IDA	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0004438	phosphatidylinositol-3-phosphatase activity	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)