• Gene id: 64419

Gene Summary

• Gene Symbol: MTMR14   Gene   UCSC   Ensembl
• Aliases: C3orf29
• Gene name: myotubularin related protein 14
• Alternate names: myotubularin-related protein 14, HCV NS5A-transactivated protein 4 splice variant A-binding protein 1, NS5ATP4ABP1, egg-derived tyrosine phosphatase homolog, jumpy,
• Gene location: 3p25.3 (9649464: 9702392)     Exons: 21     NC_000003.12
• Gene summary(Entrez): This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated wit

Protein Summary

• Protein general information: Q8NCE2  
  • Name: Myotubularin related protein 14 (EC 3.1.3. ) (HCV NS5A transactivated protein 4 splice variant A binding protein 1) (NS5ATP4ABP1) (hJumpy)
  • Length: 650  
  • Mass: 72203
  • Tissue specificity: Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. {ECO
• Sequence:

  MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKDGSGTGGSKVERIEKRCLELFGRDYCFSVIP
  NTNGDICGHYPRHIVFLEYESSEKEKDTFESTVQVSKLQDLIHRSKMARCRGRFVCPVILFKGKHICRSATLAGW
  GELYGRSGYNYFFSGGADDAWADVEDVTEEDCALRSGDTHLFDKVRGYDIKLLRYLSVKYICDLMVENKKVKFGM
  NVTSSEKVDKAQRYADFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAPLSIPDFLTHSLNIDWSQYQC
  WDLVQQTQNYLKLLLSLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWADGLIHTSLKPTEILYLTVAYDWFLF
  GHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARDGGFTLEDICMLRRKDRGSTTSLGSDFSLVM
  ESSPGATGSFTYEAVELVPAGAPTQAAWRKSHSSSPQSVLWNRPQPSEDRLPSQQGLAEARSSSSSSSNHSDNFF
  RMGSSPLEVPKPRSVDHPLPGSSLSTDYGSWQMVTGCGSIQERAVLHTDSSLPFSFPDELPNSCLLAALSDRETR
  LQEVRSAFLAAYSSTVGLRAVAPSPSGAIGGLLEQFARGVGLRSISSNAL

• Structural information:
  • Interpro: IPR039802  IPR039803  IPR029021  IPR016130  
  • CDD: cd13213
  • STRING: ENSP00000296003
• Other Databases: GeneCards:  MTMR14  Malacards:  MTMR14

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0004438	phosphatidylinositol-3-phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
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:0005737	cytoplasm	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04140	Autophagy - animal
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq