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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51763
Gene name Gene Name - the full gene name approved by the HGNC.	Inositol polyphosphate-5-phosphatase K
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	INPP5K
Synonyms (NCBI Gene) Gene synonyms aliases	MDCCAID, PPS, SKIP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MDCCAID, PPS
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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(75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001726	Component	Ruffle	IBA	21873635
GO:0001726	Component	Ruffle	IDA	12536145
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA	21873635
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	ISS
GO:0005515	Function	Protein binding	IPI	16002321, 16189514, 21712384, 25416956, 26940976, 29892012, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	18774950
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	12536145, 18774950, 26940976, 28190456
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	21873635
GO:0005886	Component	Plasma membrane	IDA	12556481, 21712384
GO:0005979	Process	Regulation of glycogen biosynthetic process	ISS
GO:0006469	Process	Negative regulation of protein kinase activity	IDA	12556481
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0010801	Process	Negative regulation of peptidyl-threonine phosphorylation	IDA	12556481
GO:0010829	Process	Negative regulation of glucose transmembrane transport	IDA	12556481
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	12536145
GO:0016311	Process	Dephosphorylation	IDA	21712384
GO:0016311	Process	Dephosphorylation	IMP	18774950
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IBA	21873635
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IDA	10753883
GO:0030036	Process	Actin cytoskeleton organization	NAS	10753883
GO:0032587	Component	Ruffle membrane	IDA	12556481
GO:0032869	Process	Cellular response to insulin stimulus	IDA	12556481
GO:0032870	Process	Cellular response to hormone stimulus	ISS
GO:0033137	Process	Negative regulation of peptidyl-serine phosphorylation	IBA	21873635
GO:0033137	Process	Negative regulation of peptidyl-serine phosphorylation	IDA	12556481
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IBA	21873635
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IDA	21712384
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	ISS
GO:0035810	Process	Positive regulation of urine volume	ISS
GO:0042577	Function	Lipid phosphatase activity	NAS	10753883
GO:0042593	Process	Glucose homeostasis	ISS
GO:0043005	Component	Neuron projection	IDA	10753883
GO:0043407	Process	Negative regulation of MAP kinase activity	IDA	12556481
GO:0043922	Process	Negative regulation by host of viral transcription	IDA	18774950
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IBA	21873635
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IDA	12556481
GO:0045869	Process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	18774950
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IDA	10753883
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IBA	21873635
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	12556481
GO:0046855	Process	Inositol phosphate dephosphorylation	IBA	21873635
GO:0046855	Process	Inositol phosphate dephosphorylation	IDA	12536145
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA	21873635
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	12536145, 12556481
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18774950, 21712384
GO:0051497	Process	Negative regulation of stress fiber assembly	IDA	12556481
GO:0051898	Process	Negative regulation of protein kinase B signaling	IBA	21873635
GO:0051898	Process	Negative regulation of protein kinase B signaling	IDA	12556481
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	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	ISS
GO:0090315	Process	Negative regulation of protein targeting to membrane	IDA	12556481
GO:0097178	Process	Ruffle assembly	IDA	12556481
GO:2000466	Process	Negative regulation of glycogen (starch) synthase activity	ISS
GO:2001153	Process	Positive regulation of renal water transport	ISS

MIM	HGNC	e!Ensembl
607875	33882	ENSG00000132376

Protein

UniProt ID

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 (12)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Marinesco-sjogren syndrome	Marinesco-Sjogren syndrome, Marinesco-Sj�gren syndrome	rs119456966, rs370290043	28190459
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913 View all (15 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Specific learning disorder	Specific learning disability	ClinVar
Marinesco-Sjogren Syndrome	Marinesco-Sjogren syndrome	GenCC

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
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)