1. Gene
  2. INPP5K - inositol polyphosphate-5-phosphatase K Gene

INPP5K - inositol polyphosphate-5-phosphatase K Gene

Homo sapiens

Also known as PPS; SKIP; MDCCAID

Gene ID: 51763 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (19 - 311)

  • 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 Reference
Intra
INPP5K Q9BT40 TNFRSF10D Homo sapiens Q9UBN6 32296183
Intra
INPP5K Q9BT40 TNFRSF10D Homo sapiens Q9UBN6 32296183
Intra
INPP5K Q9BT40 TNFRSF10D Homo sapiens Q9UBN6 32296183
Intra
INPP5K Q9BT40 KLK6 Homo sapiens Q92876 32814053
Intra
INPP5K Q9BT40 KLK6 Homo sapiens Q92876 32814053
Intra
INPP5K Q9BT40 KLK6 Homo sapiens Q92876 32814053
Intra
INPP5K Q9BT40 ATP5PF Homo sapiens P18859 32296183
Intra
INPP5K Q9BT40 ATP5PF Homo sapiens P18859 32296183
Intra
INPP5K Q9BT40 FADS6 Homo sapiens Q8N9I5 32296183
Intra
INPP5K Q9BT40 FADS6 Homo sapiens Q8N9I5 32296183
Intra
INPP5K Q9BT40 SFT2D2 Homo sapiens O95562 32296183
Intra
INPP5K Q9BT40 SFT2D2 Homo sapiens O95562 32296183
Intra
INPP5K Q9BT40 GOLT1B Homo sapiens Q9Y3E0 32296183
Intra
INPP5K Q9BT40 GOLT1B Homo sapiens Q9Y3E0 32296183
Intra
INPP5K Q9BT40 GOLT1B Homo sapiens Q9Y3E0 32296183
Intra
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013 25416956
Intra
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013 32296183
Intra
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013 32296183
Intra
INPP5K Q9BT40 MAD2L1BP Homo sapiens Q15013 33961781
Intra
INPP5K Q9BT40 ARL6IP1 Homo sapiens Q15041 32296183
Intra
INPP5K Q9BT40 ARL6IP1 Homo sapiens Q15041 32296183
Intra
INPP5K Q9BT40 LNX1 Homo sapiens Q8TBB1
Y2H
16002321
Intra
INPP5K Q9BT40 LNX1 Homo sapiens Q8TBB1 16002321
Intra
INPP5K Q9BT40 LNX1 Homo sapiens Q8TBB1
IF
16002321
Intra
INPP5K Q9BT40 PBX3 Homo sapiens Q96AL5 32296183
Intra
INPP5K Q9BT40 PBX3 Homo sapiens Q96AL5 32296183
Intra
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0 25416956
Intra
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0 32296183
Intra
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0 25416956
Intra
INPP5K Q9BT40 FATE1 Homo sapiens Q969F0 32296183
Intra
INPP5K Q9BT40 KRT31 Homo sapiens Q15323 25416956
Intra
INPP5K Q9BT40 KRT31 Homo sapiens Q15323 32296183
Intra
INPP5K Q9BT40 KRT31 Homo sapiens Q15323 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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