• Gene id: 9107

Gene Summary

• Gene Symbol: MTMR6   Gene   UCSC   Ensembl
• Gene name: myotubularin related protein 6
• Alternate names: myotubularin-related protein 6, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase,
• Gene location: 13q12.13 (25287511: 25246200)     Exons: 16     NC_000013.11
• OMIM: 603561

Protein Summary

• Protein general information: Q9Y217  
  • Name: Myotubularin related protein 6 (Phosphatidylinositol 3,5 bisphosphate 3 phosphatase) (EC 3.1.3.95) (Phosphatidylinositol 3 phosphate phosphatase) (EC 3.1.3.64)
  • Length: 621  
  • Mass: 71968
  • Tissue specificity: Expressed in CD4+ T-cells. {ECO
• Sequence:

  MEHIRTTKVEQVKLLDRFSTSNKSLTGTLYLTATHLLFIDSHQKETWILHHHIASVEKLALTTSGCPLVIQCKNF
  RTVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDSERLQGWQLIDLAEEYKRMGVPNSHWQLSDAN
  RDYKICETYPRELYVPRIASKPIIVGSSKFRSKGRFPVLSYYHQDKEAAICRCSQPLSGFSARCLEDEHLLQAIS
  KANPVNRYMYVMDTRPKLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGTKGLSVNDFYS
  GLESSGWLRHIKAVMDAAIFLAKAITVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTIKGFMVLIEKDWISF
  GHKFSERCGQLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFSEAFLLQIHEHIHSCQFGNFLGNCQKEREELKL
  KEKTYSLWPFLLEDQKKYLNPLYSSESHRFTVLEPNTVSFNFKFWRNMYHQFDRTLHPRQSVFNIIMNMNEQNKQ
  LEKDIKDLESKIKQRKNKQTDGILTKELLHSVHPESPNLKTSLCFKEQTLLPVNDALRTIEGSSPADNRYSEYAE
  EFSKSEPAVVSLEYGVARMTC

• Structural information:
  • Protein Domains: (1..10-)
    (/note="GRAM-)
    (/evidence="ECO:0000255-)
    (124..49-)
    (/note="Myotubularin-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00669"-)
  • Interpro: IPR030581  IPR035998  IPR010569  IPR030564  IPR011993   IPR029021  IPR016130  IPR003595  
  • Prosite: PS51339 PS00383
  • CDD: cd13343
  • PDB: 2YF0
  • PDBsum: 2YF0
  • STRING: ENSP00000371221
• Other Databases: GeneCards:  MTMR6  Malacards:  MTMR6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0106018	phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0005635	nuclear envelope	IBA	cellular component
GO:0004438	phosphatidylinositol-3-phosphatase activity	IBA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0016311	dephosphorylation	IEA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0052866	phosphatidylinositol phosphate phosphatase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0032587	ruffle membrane	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:0106018	phosphatidylinositol-3,5-bisphosphate phosphatase activity	IDA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0004725	protein tyrosine phosphatase activity	NAS	molecular function
GO:0006470	protein dephosphorylation	NAS	biological process
GO:0004722	protein serine/threonine phosphatase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26361204
Embryo quality	MIK: 26361204
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray