• Gene id: 51763

Gene Summary

• Gene Symbol: INPP5K   Gene   UCSC   Ensembl
• Aliases: MDCCAID, PPS, SKIP
• Gene name: inositol polyphosphate-5-phosphatase K
• Alternate names: inositol polyphosphate 5-phosphatase K, phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase, phosphatidylinositol-4,5-bisphosphate 5-phosphatase, skeletal muscle and kidney-enriched inositol phosphatase,
• Gene location: 17p13.3 (1516734: 1494574)     Exons: 14     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternative
• OMIM: 607875

Protein Summary

• Protein general information: Q9BT40  
  • Name: Inositol polyphosphate 5 phosphatase K (EC 3.1.3.56) (Phosphatidylinositol 3,4,5 trisphosphate 5 phosphatase) (EC 3.1.3.86) (Phosphatidylinositol 4,5 bisphosphate 5 phosphatase) (EC 3.1.3.36) (Skeletal muscle and kidney enriched inositol phosphatase)
  • Length: 448  
  • Mass: 51090
  • Tissue specificity: Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney. {ECO
• Sequence:

  MSSRKLSGPKGRRLSIHVVTWNVASAAPPLDLSDLLQLNNRNLNLDIYVIGLQELNSGIISLLSDAAFNDSWSSF
  LMDVLSPLSFIKVSHVRMQGILLLVFAKYQHLPYIQILSTKSTPTGLFGYWGNKGGVNICLKLYGYYVSIINCHL
  PPHISNNYQRLEHFDRILEMQNCEGRDIPNILDHDLIIWFGDMNFRIEDFGLHFVRESIKNRCYGGLWEKDQLSI
  AKKHDPLLREFQEGRLLFPPTYKFDRNSNDYDTSEKKRKPAWTDRILWRLKRQPCAGPDTPIPPASHFSLSLRGY
  SSHMTYGISDHKPVSGTFDLELKPLVSAPLIVLMPEDLWTVENDMMVSYSSTSDFPSSPWDWIGLYKVGLRDVND
  YVSYAWVGDSKVSCSDNLNQVYIDISNIPTTEDEFLLCYYSNSLRSVVGISRPFQIPPGSLREDPLGEAQPQI

• Structural information:
  • Interpro: IPR036691  IPR005135  IPR000300  IPR041611  
  • STRING: ENSP00000413937
• Other Databases: GeneCards:  INPP5K  Malacards:  INPP5K

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001726	ruffle	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016312	inositol bisphosphate phosphatase activity	IBA	molecular function
GO:0033137	negative regulation of peptidyl-serine phosphorylation	IBA	biological process
GO:0034485	phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IBA	molecular function
GO:0046855	inositol phosphate dephosphorylation	IBA	biological process
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0045719	negative regulation of glycogen biosynthetic process	IBA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0052658	inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004445	inositol-polyphosphate 5-phosphatase activity	IEA	molecular function
GO:0052659	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA	molecular function
GO:0046855	inositol phosphate dephosphorylation	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0016020	membrane	IDA	cellular component
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: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: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:2001153	positive regulation of renal water transport	IEA	biological process
GO:2000466	negative regulation of glycogen (starch) synthase activity	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0035305	negative regulation of dephosphorylation	IEA	biological process
GO:0034485	phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA	molecular function
GO:0033137	negative regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0016312	inositol bisphosphate phosphatase activity	IEA	molecular function
GO:0016311	dephosphorylation	IEA	biological process
GO:0005979	regulation of glycogen biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005000	vasopressin receptor activity	IEA	molecular function
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IEA	biological process
GO:0045719	negative regulation of glycogen biosynthetic process	IEA	biological process
GO:0035810	positive regulation of urine volume	IEA	biological process
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097178	ruffle assembly	IDA	biological process
GO:0071356	cellular response to tumor necrosis factor	IDA	biological process
GO:0051926	negative regulation of calcium ion transport	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0046030	inositol trisphosphate phosphatase activity	IDA	molecular function
GO:0043922	negative regulation by host of viral transcription	IDA	biological process
GO:0034594	phosphatidylinositol trisphosphate phosphatase activity	IDA	molecular function
GO:0034485	phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IDA	molecular function
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0016312	inositol bisphosphate phosphatase activity	IDA	molecular function
GO:0016311	dephosphorylation	IDA	biological process
GO:0010801	negative regulation of peptidyl-threonine phosphorylation	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0071364	cellular response to epidermal growth factor stimulus	IDA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0033137	negative regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0090315	negative regulation of protein targeting to membrane	IDA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IDA	biological process
GO:0051497	negative regulation of stress fiber assembly	IDA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IDA	biological process
GO:0045869	negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	biological process
GO:0045719	negative regulation of glycogen biosynthetic process	IDA	biological process
GO:0010829	negative regulation of glucose transmembrane transport	IDA	biological process
GO:0006469	negative regulation of protein kinase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0035810	positive regulation of urine volume	ISS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2001153	positive regulation of renal water transport	ISS	biological process
GO:2000466	negative regulation of glycogen (starch) synthase activity	ISS	biological process
GO:0071320	cellular response to cAMP	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0042577	lipid phosphatase activity	NAS	molecular function
GO:0035305	negative regulation of dephosphorylation	ISS	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0016311	dephosphorylation	IMP	biological process
GO:0005979	regulation of glycogen biosynthetic process	ISS	biological process
GO:0005000	vasopressin receptor activity	ISS	molecular function
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process
GO:0032870	cellular response to hormone stimulus	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04910	Insulin signaling pathway
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray