• Gene id: 56623

Gene Summary

• Gene Symbol: INPP5E   Gene   UCSC   Ensembl
• Aliases: CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin
• Gene name: inositol polyphosphate-5-phosphatase E
• Alternate names: phosphatidylinositol polyphosphate 5-phosphatase type IV, 72 kDa inositol polyphosphate 5-phosphatase, phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase, phosphatidylinositol-4,5-bisphosphate 5-phosphatase,
• Gene location: 9q34.3 (136439860: 136428618)     Exons: 10     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. S
• OMIM: 606565

Protein Summary

• Protein general information: Q9NRR6  
  • Name: Phosphatidylinositol polyphosphate 5 phosphatase type IV (72 kDa inositol polyphosphate 5 phosphatase) (Inositol polyphosphate 5 phosphatase E) (Phosphatidylinositol 4,5 bisphosphate 5 phosphatase) (EC 3.1.3.36) (Phosphatidylinositol 3,4,5 trisphosphate 5
  • Length: 644  
  • Mass: 70205
  • Tissue specificity: Detected in brain, heart, pancreas, testis and spleen. {ECO
• Sequence:

  MPSKAENLRPSEPAPQPPEGRTLQGQLPGAPPAQRAGSPPDAPGSESPALACSTPATPSGEDPPARAAPIAPRPP
  ARPRLERALSLDDKGWRRRRFRGSQEDLEARNGTSPSRGSVQSEGPGAPAHSCSPPCLSTSLQEIPKSRGVLSSE
  RGSPSSGGNPLSGVASSSPNLPHRDAAVAGSSPRLPSLLPPRPPPALSLDIASDSLRTANKVDSDLADYKLRAQP
  LLVRAHSSLGPGRPRSPLACDDCSLRSAKSSFSLLAPIRSKDVRSRSYLEGSLLASGALLGADELARYFPDRNVA
  LFVATWNMQGQKELPPSLDEFLLPAEADYAQDLYVIGVQEGCSDRREWETRLQETLGPHYVLLSSAAHGVLYMSL
  FIRRDLIWFCSEVECSTVTTRIVSQIKTKGALGISFTFFGTSFLFITSHFTSGDGKVAERLLDYTRTVQALVLPR
  NVPDTNPYRSSAADVTTRFDEVFWFGDFNFRLSGGRTVVDALLCQGLVVDVPALLQHDQLIREMRKGSIFKGFQE
  PDIHFLPSYKFDIGKDTYDSTSKQRTPSYTDRVLYRSRHKGDICPVSYSSCPGIKTSDHRPVYGLFRVKVRPGRD
  NIPLAAGKFDRELYLLGIKRRISKEIQRQQALQSQNSSTICSVS

• Structural information:
  • Interpro: IPR036691  IPR005135  IPR042478  IPR000300  
  • PDB: 2XSW
  • PDBsum: 2XSW
  • STRING: ENSP00000360777
• Other Databases: GeneCards:  INPP5E  Malacards:  INPP5E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	IDA	cellular component
GO:0004445	inositol-polyphosphate 5-phosphatase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
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:0106019	phosphatidylinositol-4,5-bisphosphate phosphatase activity	IEA	molecular function
GO:0017148	negative regulation of translation	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0046855	inositol phosphate dephosphorylation	IEA	biological process
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA	molecular function
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004445	inositol-polyphosphate 5-phosphatase activity	IEA	molecular function
GO:1903565	negative regulation of protein localization to cilium	IEA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0004445	inositol-polyphosphate 5-phosphatase activity	TAS	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
Joubert syndrome	PMID:23386033
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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