• Gene id: 9108

Gene Summary

• Gene Symbol: MTMR7   Gene   UCSC   Ensembl
• Gene name: myotubularin related protein 7
• Alternate names: myotubularin-related protein 7, inositol 1,3-bisphosphate phosphatase, phosphatidylinositol-3-phosphate phosphatase,
• Gene location: 8p22 (17413352: 17296127)     Exons: 17     NC_000008.11
• Gene summary(Entrez): 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-li
• OMIM: 610950

Protein Summary

• Protein general information: Q9Y216  
  • Name: Myotubularin related protein 7 (Inositol 1,3 bisphosphate phosphatase) (EC 3.1.3. ) (Phosphatidylinositol 3 phosphate phosphatase) (EC 3.1.3.64)
  • Length: 660  
  • Mass: 75833
  • Tissue specificity: Expressed specifically in brain. {ECO
• Sequence:

  MEHIRTPKVENVRLVDRVSPKKAALGTLYLTATHVIFVENSPDPRKETWILHSQISTIEKQATTATGCPLLIRCK
  NFQIIQLIIPQERDCHDVYISLIRLARPVKYEELYCFSFNPMLDKEEREQGWVLIDLSEEYTRMGLPNHYWQLSD
  VNRDYRVCDSYPTELYVPKSATAHIIVGSSKFRSRRRFPVLSYYYKDNHASICRSSQPLSGFSARCLEDEQMLQA
  IRKANPGSDFVYVVDTRPKLNAMANRAAGKGYENEDNYSNIKFQFIGIENIHVMRNSLQKMLEVCELKSPSMSDF
  LWGLENSGWLRHIKAIMDAGIFIAKAVSEEGASVLVHCSDGWDRTAQVCSVASLLLDPHYRTLKGFMVLIEKDWI
  SFGHKFNHRYGNLDGDPKEISPVIDQFIECVWQLMEQFPCAFEFNERFLIHIQHHIYSCQFGNFLCNSQKERREL
  KIQERTYSLWAHLWKNRADYLNPLFRADHSQTQGTLHLPTTPCNFMYKFWSGMYNRFEKGMQPRQSVTDYLMAVK
  EETQQLEEELEALEERLEKIQKVQLNCTKVKSKQSEPSKHSGFSTSDNSIANTPQDYSGNMKSFPSRSPSQGDED
  SALILTQDNLKSSDPDLSANSDQESGVEDLSCRSPSGGEHAPSEDSGKDRDSDEAVFLTA

• Structural information:
  • Protein Domains: (126..50-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR030572  IPR036003  IPR010569  IPR030564  IPR011993   IPR029021  IPR016130  IPR003595  IPR000387  
  • Prosite: PS51339 PS00383 PS50056
  • CDD: cd13344
  • STRING: ENSP00000180173
• Other Databases: GeneCards:  MTMR7  Malacards:  MTMR7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0016311	dephosphorylation	IEA	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0006470	protein dephosphorylation	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046855	inositol phosphate dephosphorylation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray