Human Gene INPP5K (ENST00000421807.7_7) from GENCODE V47lift37
  Description: inositol polyphosphate-5-phosphatase K, transcript variant 1 (from RefSeq NM_016532.4)
Gencode Transcript: ENST00000421807.7_7
Gencode Gene: ENSG00000132376.20_13
Transcript (Including UTRs)
   Position: hg19 chr17:1,397,871-1,419,906 Size: 22,036 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr17:1,399,117-1,419,793 Size: 20,677 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:1,397,871-1,419,906)mRNA (may differ from genome)Protein (448 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INP5K_HUMAN
DESCRIPTION: RecName: Full=Inositol polyphosphate 5-phosphatase K; EC=3.1.3.56; AltName: Full=Skeletal muscle and kidney-enriched inositol phosphatase;
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. Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5- trisphosphate. May negatively regulate assembly of the actin cytoskeleton.
CATALYTIC ACTIVITY: D-myo-inositol 1,4,5-trisphosphate + H(2)O = myo-inositol 1,4-bisphosphate + phosphate.
INTERACTION: Q8TBB1:LNX1; NbExp=3; IntAct=EBI-749162, EBI-739832;
SUBCELLULAR LOCATION: Endoplasmic reticulum. Note=Following stimulation with EGF, translocates to membrane ruffles.
TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney.
SIMILARITY: Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: INPP5K
Diseases sorted by gene-association score: muscular dystrophy, congenital, with cataracts and intellectual disability* (1220), marinesco-sjogren syndrome* (247), muscular dystrophy, congenital (10), intellectual disability (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.68 RPKM in Testis
Total median expression: 681.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.10113-0.488 Picture PostScript Text
3' UTR -518.101246-0.416 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005135 - Endo/exonuclease/phosphatase
IPR000300 - IPPc

Pfam Domains:
PF03372 - Endonuclease/Exonuclease/phosphatase family
PF17751 - SKICH domain

SCOP Domains:
56219 - DNase I-like

ModBase Predicted Comparative 3D Structure on Q9BT40
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0004445 inositol-polyphosphate 5-phosphatase activity
GO:0005000 vasopressin receptor activity
GO:0005515 protein binding
GO:0016312 inositol bisphosphate phosphatase activity
GO:0016787 hydrolase activity
GO:0034485 phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
GO:0034594 phosphatidylinositol trisphosphate phosphatase activity
GO:0034595 phosphatidylinositol phosphate 5-phosphatase activity
GO:0042577 lipid phosphatase activity
GO:0046030 inositol trisphosphate phosphatase activity
GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity
GO:0052659 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity

Biological Process:
GO:0001701 in utero embryonic development
GO:0001933 negative regulation of protein phosphorylation
GO:0005979 regulation of glycogen biosynthetic process
GO:0006469 negative regulation of protein kinase activity
GO:0006661 phosphatidylinositol biosynthetic process
GO:0007186 G-protein coupled receptor signaling pathway
GO:0010801 negative regulation of peptidyl-threonine phosphorylation
GO:0010829 negative regulation of glucose transport
GO:0016311 dephosphorylation
GO:0030036 actin cytoskeleton organization
GO:0032868 response to insulin
GO:0032869 cellular response to insulin stimulus
GO:0032870 cellular response to hormone stimulus
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0035305 negative regulation of dephosphorylation
GO:0035810 positive regulation of urine volume
GO:0042593 glucose homeostasis
GO:0043407 negative regulation of MAP kinase activity
GO:0043922 negative regulation by host of viral transcription
GO:0045719 negative regulation of glycogen biosynthetic process
GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation
GO:0051497 negative regulation of stress fiber assembly
GO:0051898 negative regulation of protein kinase B signaling
GO:0051926 negative regulation of calcium ion transport
GO:0071320 cellular response to cAMP
GO:0071356 cellular response to tumor necrosis factor
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0072659 protein localization to plasma membrane
GO:0090315 negative regulation of protein targeting to membrane
GO:0097178 ruffle assembly
GO:2000466 negative regulation of glycogen (starch) synthase activity
GO:2001153 positive regulation of renal water transport

Cellular Component:
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0032587 ruffle membrane
GO:0043005 neuron projection
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  U45973 - Human phosphatidylinositol (4,5)bisphosphate 5-phosphatase homolog mRNA, partial cds.
AB036829 - Homo sapiens SKIP mRNA for skeletal muscle and kidney enriched inositol phosphatase, complete cds.
AB036830 - Homo sapiens mRNA for 43-kDa form skeletal muscle and kidney enriched inositol phosphatase, complete cds.
JD376381 - Sequence 357405 from Patent EP1572962.
JD547466 - Sequence 528490 from Patent EP1572962.
JD400016 - Sequence 381040 from Patent EP1572962.
JD404144 - Sequence 385168 from Patent EP1572962.
JD327048 - Sequence 308072 from Patent EP1572962.
JD111361 - Sequence 92385 from Patent EP1572962.
JD111727 - Sequence 92751 from Patent EP1572962.
JD103576 - Sequence 84600 from Patent EP1572962.
JD045345 - Sequence 26369 from Patent EP1572962.
JD483334 - Sequence 464358 from Patent EP1572962.
JD544314 - Sequence 525338 from Patent EP1572962.
JD498779 - Sequence 479803 from Patent EP1572962.
JD181181 - Sequence 162205 from Patent EP1572962.
JD078962 - Sequence 59986 from Patent EP1572962.
JD219908 - Sequence 200932 from Patent EP1572962.
JD201551 - Sequence 182575 from Patent EP1572962.
JD289265 - Sequence 270289 from Patent EP1572962.
JD240347 - Sequence 221371 from Patent EP1572962.
JD528382 - Sequence 509406 from Patent EP1572962.
JD153772 - Sequence 134796 from Patent EP1572962.
JD488373 - Sequence 469397 from Patent EP1572962.
JD178563 - Sequence 159587 from Patent EP1572962.
JD554202 - Sequence 535226 from Patent EP1572962.
JD309774 - Sequence 290798 from Patent EP1572962.
JD296060 - Sequence 277084 from Patent EP1572962.
JD269155 - Sequence 250179 from Patent EP1572962.
JD296059 - Sequence 277083 from Patent EP1572962.
AK297955 - Homo sapiens cDNA FLJ57541 complete cds, highly similar to Skeletal muscle and kidney-enriched inositol phosphatase (EC 3.1.3.56).
JD266811 - Sequence 247835 from Patent EP1572962.
JD496195 - Sequence 477219 from Patent EP1572962.
BC004362 - Homo sapiens inositol polyphosphate-5-phosphatase K, mRNA (cDNA clone MGC:862 IMAGE:3354658), complete cds.
JD516579 - Sequence 497603 from Patent EP1572962.
AK303907 - Homo sapiens cDNA FLJ57479 complete cds, highly similar to Skeletal muscle and kidney-enriched inositol phosphatase (EC 3.1.3.56).
JD341338 - Sequence 322362 from Patent EP1572962.
AK312585 - Homo sapiens cDNA, FLJ92960, Homo sapiens skeletal muscle and kidney enriched inositolphosphatase (SKIP), transcript variant 2, mRNA.
AK312844 - Homo sapiens cDNA, FLJ93286, Homo sapiens skeletal muscle and kidney enriched inositolphosphatase (SKIP), transcript variant 1, mRNA.
KJ893987 - Synthetic construct Homo sapiens clone ccsbBroadEn_03381 INPP5K gene, encodes complete protein.
DQ892815 - Synthetic construct clone IMAGE:100005445; FLH189983.01X; RZPDo839D0375D skeletal muscle and kidney enriched inositol phosphatase (SKIP) gene, encodes complete protein.
DQ896061 - Synthetic construct Homo sapiens clone IMAGE:100010521; FLH189979.01L; RZPDo839D0365D skeletal muscle and kidney enriched inositol phosphatase (SKIP) gene, encodes complete protein.
AB529166 - Synthetic construct DNA, clone: pF1KE1040, Homo sapiens SKIP gene for SPHK1 interactor, AKAP domain containing, without stop codon, in Flexi system.
JD027790 - Sequence 8814 from Patent EP1572962.
JD021657 - Sequence 2681 from Patent EP1572962.
AK307293 - Homo sapiens cDNA, FLJ97241.
JD435868 - Sequence 416892 from Patent EP1572962.
JD226872 - Sequence 207896 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6358 - superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
PWY-6362 - 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
PWY-6363 - D-myo-inositol (1,4,5)-trisphosphate degradation
PWY-6364 - D-myo-inositol (1,3,4)-trisphosphate biosynthesis
PWY-6368 - 3-phosphoinositide degradation
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein Q9BT40 (Reactome details) participates in the following event(s):

R-HSA-1675949 PI(3,4,5)P3 is dephosphorylated to PI(3,4)P2 by INPP5[2] at the plasma membrane
R-HSA-1676177 PI(4,5)P2 is dephosphorylated to PI4P by SYNJ/INPP5[1] at the plasma membrane
R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1483255 PI Metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6I2, B2R750, D3DTH8, ENST00000421807.1, ENST00000421807.2, ENST00000421807.3, ENST00000421807.4, ENST00000421807.5, ENST00000421807.6, INP5K_HUMAN, INPP5K , NM_016532, PPS, Q15733, Q9BT40, Q9NPJ5, Q9P2R5, SKIP , uc319rfg.1, uc319rfg.2
UCSC ID: ENST00000421807.7_7
RefSeq Accession: NM_016532.4
Protein: Q9BT40 (aka INP5K_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.