INPP5K - inositol polyphosphate-5-phosphatase K Gene

Also Known as PPS; SKIP; MDCCAID

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51763

About INPP5K

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,494,577-1,516,612 (from NCBI)

This gene has 20 transcripts (splice variants), 287 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 17.9), lung (RPKM 14.5) and 25 other tissues.

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. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

INPP5K Products (3)

mRNA	Protein	Name
NM_001135642.2	NP_001129114.1	inositol polyphosphate 5-phosphatase K isoform 2
NM_016532.4	NP_057616.2	inositol polyphosphate 5-phosphatase K isoform 1
NM_130766.3	NP_570122.1	inositol polyphosphate 5-phosphatase K isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables inositol bisphosphate phosphatase activity	IDA IDA: Inferred from direct assay	10753883	GOA
enables inositol trisphosphate phosphatase activity	IDA IDA: Inferred from direct assay	10753883	GOA
enables phosphatidylinositol phosphate 5-phosphatase activity	IMP IMP: Inferred from mutant phenotype	18774950	GOA
enables phosphatidylinositol trisphosphate phosphatase activity	IDA IDA: Inferred from direct assay	12556481	GOA
enables phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IDA IDA: Inferred from direct assay	21712384	GOA
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP IMP: Inferred from mutant phenotype	28190456	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16002321	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to epidermal growth factor stimulus	IDA IDA: Inferred from direct assay	21712384	GOA
involved in cellular response to insulin stimulus	IDA IDA: Inferred from direct assay	12556481	GOA
involved in cellular response to tumor necrosis factor	IDA IDA: Inferred from direct assay	21712384	GOA
involved in dephosphorylation	IDA IDA: Inferred from direct assay	21712384	GOA
involved in dephosphorylation	IMP IMP: Inferred from mutant phenotype	18774950	GOA
involved in negative regulation by host of viral transcription	IDA IDA: Inferred from direct assay	18774950	GOA
involved in negative regulation of D-glucose transmembrane transport	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of MAP kinase activity	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of calcium ion transport	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of glycogen biosynthetic process	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of insulin receptor signaling pathway	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of peptidyl-threonine phosphorylation	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of protein kinase activity	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of protein targeting to membrane	IDA IDA: Inferred from direct assay	12556481	GOA
involved in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA IDA: Inferred from direct assay	18774950	GOA
involved in negative regulation of stress fiber assembly	IDA IDA: Inferred from direct assay	12556481	GOA
acts upstream of or within phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	12536145	GOA
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	12556481	GOA
involved in ruffle assembly	IDA IDA: Inferred from direct assay	12556481	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	10753883	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12536145	GOA
located in membrane	IDA IDA: Inferred from direct assay	12536145	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	10753883	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18774950	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	18774950	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12556481	GOA
located in ruffle	IDA IDA: Inferred from direct assay	12536145	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	12556481	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	12556481	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

INPP5K Protein Structure

Exo_endo_phos

0
100
200
300
400
448 a.a.

Protein Preferred Names	Protein Names
inositol polyphosphate 5-phosphatase K	phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase

INPP5K Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	INPP5K	Q9BT40	TNFRSF10D	Homo sapiens	Q9UBN6	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	TNFRSF10D	Homo sapiens	Q9UBN6	Validated Y2H	32296183
Intra	INPP5K	Q9BT40	TNFRSF10D	Homo sapiens	Q9UBN6	Y2H Array	32296183
Intra	INPP5K	Q9BT40	KLK6	Homo sapiens	Q92876	Y2H Pooling	32814053
Intra	INPP5K	Q9BT40	KLK6	Homo sapiens	Q92876	Validated Y2H	32814053
Intra	INPP5K	Q9BT40	KLK6	Homo sapiens	Q92876	Y2H Array	32814053
Intra	INPP5K	Q9BT40	ATP5PF	Homo sapiens	P18859	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	ATP5PF	Homo sapiens	P18859	Y2H Array	32296183
Intra	INPP5K	Q9BT40	FADS6	Homo sapiens	Q8N9I5	Y2H Array	32296183
Intra	INPP5K	Q9BT40	FADS6	Homo sapiens	Q8N9I5	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	SFT2D2	Homo sapiens	O95562	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	SFT2D2	Homo sapiens	O95562	Y2H Array	32296183
Intra	INPP5K	Q9BT40	GOLT1B	Homo sapiens	Q9Y3E0	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	GOLT1B	Homo sapiens	Q9Y3E0	Y2H Array	32296183
Intra	INPP5K	Q9BT40	GOLT1B	Homo sapiens	Q9Y3E0	Validated Y2H	32296183
Intra	INPP5K	Q9BT40	MAD2L1BP	Homo sapiens	Q15013	Validated Y2H	25416956
Intra	INPP5K	Q9BT40	MAD2L1BP	Homo sapiens	Q15013	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	MAD2L1BP	Homo sapiens	Q15013	Y2H Array	32296183
Intra	INPP5K	Q9BT40	MAD2L1BP	Homo sapiens	Q15013	Anti Tag CoIP	33961781
Intra	INPP5K	Q9BT40	ARL6IP1	Homo sapiens	Q15041	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	ARL6IP1	Homo sapiens	Q15041	Y2H Array	32296183
Intra	INPP5K	Q9BT40	LNX1	Homo sapiens	Q8TBB1	Y2H	16002321
Intra	INPP5K	Q9BT40	LNX1	Homo sapiens	Q8TBB1	Anti Tag CoIP	16002321
Intra	INPP5K	Q9BT40	LNX1	Homo sapiens	Q8TBB1	IF	16002321
Intra	INPP5K	Q9BT40	PBX3	Homo sapiens	Q96AL5	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	PBX3	Homo sapiens	Q96AL5	Y2H Array	32296183
Intra	INPP5K	Q9BT40	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	25416956
Intra	INPP5K	Q9BT40	FATE1	Homo sapiens	Q969F0	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	FATE1	Homo sapiens	Q969F0	Y2H Array	25416956
Intra	INPP5K	Q9BT40	FATE1	Homo sapiens	Q969F0	Y2H Array	32296183
Intra	INPP5K	Q9BT40	KRT31	Homo sapiens	Q15323	Validated Y2H	25416956
Intra	INPP5K	Q9BT40	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	INPP5K	Q9BT40	KRT31	Homo sapiens	Q15323	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

INPP5K Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810076	SKIP Antibody (YA9420)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

Related Diseases

Diseases	Alias
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Congenital Muscular Dystrophy With Cataracts And Intellectual Disability MDCCAID
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Macrocephaly/Autism Syndrome	Macrocephaly-Autism Syndrome Macrocephaly-Intellectual Disability-Autism Syndrome MCEPHAS
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Disease Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06833	INPP5K Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	INPP5K	RGD	RGD:1359130
Bos taurus	INPP5K	VGNC	VGNC:30214
Mus musculus	INPP5K	MGD	MGI:1194899
Felis catus	INPP5K	VGNC	VGNC:62931
Canis familiaris	INPP5K	VGNC	VGNC:42036
Macaca mulatta	INPP5K	VGNC	VGNC:73695
Others	INPP5K	NCBI