Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51763
Gene name	Inositol polyphosphate-5-phosphatase K
Gene symbol	INPP5K
Synonyms (NCBI Gene)	MDCCAIDPPSSKIP
Chromosome	17
Chromosome location	17p13.3
Summary	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

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749383757	C>T	Pathogenic	Coding sequence variant, missense variant, initiator codon variant
rs750781027	C>A,T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs761612652	C>T	Pathogenic	Coding sequence variant, missense variant
rs766046008	T>C	Pathogenic	Coding sequence variant, missense variant
rs1060505038	A>G	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1060505039	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, initiator codon variant
rs1060505040	GT>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029506	hsa-miR-26b-5p	Microarray	19088304
MIRT1067460	hsa-miR-299-3p	CLIP-seq
MIRT1067461	hsa-miR-3138	CLIP-seq
MIRT1067462	hsa-miR-3614-5p	CLIP-seq
MIRT1067463	hsa-miR-4491	CLIP-seq
MIRT1067464	hsa-miR-4657	CLIP-seq
MIRT1067465	hsa-miR-4672	CLIP-seq
MIRT1067466	hsa-miR-4800-5p	CLIP-seq
MIRT1067467	hsa-miR-485-3p	CLIP-seq
MIRT1067468	hsa-miR-765	CLIP-seq
MIRT2016387	hsa-miR-3668	CLIP-seq
MIRT2016388	hsa-miR-4719	CLIP-seq
MIRT2248637	hsa-miR-2117	CLIP-seq
MIRT2451883	hsa-miR-4766-5p	CLIP-seq
MIRT2451884	hsa-miR-605	CLIP-seq

Show/Hide all (97)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001726	Component	Ruffle	IBA
GO:0001726	Component	Ruffle	IDA	12536145
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP	28190456
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0005000	Function	Vasopressin receptor activity	IEA
GO:0005000	Function	Vasopressin receptor activity	ISS
GO:0005515	Function	Protein binding	IPI	16002321, 16189514, 21712384, 25416956, 26940976, 29892012, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	18774950
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	12536145, 18774950, 26940976, 28190456
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005802	Component	Trans-Golgi network	IDA	12556481
GO:0005829	Component	Cytosol	IDA	10753883, 21712384
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12556481, 21712384
GO:0005979	Process	Regulation of glycogen biosynthetic process	IEA
GO:0005979	Process	Regulation of glycogen biosynthetic process	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0010829	Process	Negative regulation of D-glucose transmembrane transport	IDA	12556481
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	12536145
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IBA
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IDA	10753883, 18573875
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030036	Process	Actin cytoskeleton organization	NAS	10753883
GO:0032587	Component	Ruffle membrane	IDA	12556481
GO:0032868	Process	Response to insulin	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IDA	12556481
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0032870	Process	Cellular response to hormone stimulus	ISS
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IBA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IDA	21712384
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0034594	Function	Phosphatidylinositol trisphosphate phosphatase activity	IDA	12556481
GO:0034595	Function	Phosphatidylinositol phosphate 5-phosphatase activity	IMP	18774950
GO:0035305	Process	Negative regulation of dephosphorylation	IEA
GO:0035305	Process	Negative regulation of dephosphorylation	ISS
GO:0035810	Process	Positive regulation of urine volume	IEA
GO:0035810	Process	Positive regulation of urine volume	ISS
GO:0042577	Function	Lipid phosphatase activity	NAS	10753883
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	10753883
GO:0043922	Process	Host-mediated suppression of viral transcription	IDA	18774950
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IBA
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IDA	12556481
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IEA
GO:0045869	Process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	18774950
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IBA
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IDA	10753883, 18573875
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IBA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	12556481
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	12536145
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	12556481
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18774950, 21712384
GO:0051049	Process	Regulation of transport	IEA
GO:0051497	Process	Negative regulation of stress fiber assembly	IDA	12556481
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	12556481
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051926	Process	Negative regulation of calcium ion transport	IDA	12556481
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0052659	Function	Inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	21712384
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IDA	21712384
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0090315	Process	Negative regulation of protein targeting to membrane	IDA	12556481
GO:0097178	Process	Ruffle assembly	IDA	12556481
GO:1901701	Process	Cellular response to oxygen-containing compound	IEA
GO:1902679	Process	Negative regulation of RNA biosynthetic process	IEA
GO:2001153	Process	Positive regulation of renal water transport	IEA
GO:2001153	Process	Positive regulation of renal water transport	ISS

MIM	HGNC	e!Ensembl
607875	33882	ENSG00000132376

Q9BT40

Protein 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)

Protein function

Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	19 → 311	Endonuclease/Exonuclease/phosphatase family	Domain
PF17751	SKICH	331 → 431	SKICH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney. {ECO:0000269|PubMed:10753883}.

Sequence

MSSRKLSGPKGRRLSIHVVTWNVASAAPPLDLSDLLQLNNRNLNLDIYVIGLQELNSGII
SLLSDAAFNDSWSSFLMDVLSPLSFIKVSHVRMQGILLLVFAKYQHLPYIQILSTKSTPT
GLFGYWGNKGGVNICLKLYGYYVSIINCHLPPHISNNYQRLEHFDRILEMQNCEGRDIPN
ILDHDLIIWFGDMNFRIEDFGLHFVRESIKNRCYGGLWEKDQLSIAKKHDPLLREFQEGR
LLFPPTYKFDRNSNDYDTSEKKRKPAWTDRILWRLKRQPCAGPDTPIPPASHFSLSLRGY
SSHMTYGISDHKPVSGTFDLELKPLVSAPLIVLMPEDLWTVENDMMVSYSSTSDFPSSPW
DWIGLYKVGLRDVNDYVSYAWVGDSKVSCSDNLNQVYIDISNIPTTEDEFLLCYYSNSLR
SVVGISRPFQIPPGSLREDPLGEAQPQI

Sequence length

448

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways		Synthesis of PIPs at the plasma membrane

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital muscular dystrophy with cataracts and intellectual disability	Likely pathogenic; Pathogenic	rs2075207934, rs779061835, rs2075357811, rs2543926238, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757	RCV002287624 RCV002287625 RCV002291261 RCV002291262 RCV000477672 RCV000477699 RCV000477733 RCV000477679 RCV000477707 RCV000477730

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital muscular dystrophy	Conflicting classifications of pathogenicity	rs1060505038	RCV005625621
Congenital myopathy	Conflicting classifications of pathogenicity	rs1060505038	RCV005625622
Distal myopathy	Uncertain significance	rs150733313	RCV005626879
Familial cancer of breast	Benign; Likely benign	rs34308535, rs146917975	RCV005935194 RCV005905871
INPP5K-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs2543894615, rs61733755, rs34308535, rs149432814, rs61735262, rs79971656, rs61735267, rs547379014, rs146917975, rs147375994	RCV003952119 RCV003951784 RCV003976548 RCV003960663 RCV003970807 RCV003962917 RCV003916049 RCV003967996 RCV003910522 RCV003930750 RCV003968285
Malignant lymphoma, large B-cell, diffuse	Benign	rs34308535	RCV005935196
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Conflicting classifications of pathogenicity	rs1060505038	RCV005645091
Precursor Cell Lymphoblastic Leukemia-Lymphoma	Conflicting classifications of pathogenicity	rs2075263105	RCV005861235
See cases	Conflicting classifications of pathogenicity	rs765015650	RCV002253085
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs372212393	RCV005937524
Uterine carcinosarcoma	Benign	rs34308535	RCV005935197
Uveal melanoma	Benign	rs34308535	RCV005935195

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Inhibit	32420386
Developmental Disabilities	Associate	33168985
Endometrial Neoplasms	Associate	36805217
Leukemia	Associate	36599086
Neoplasms	Associate	32420386
Parkinson Disease	Associate	29607885

INPP5K (inositol polyphosphate-5-phosphatase K)