Human Gene PPIP5K2 (uc003koe.4) Description and Page Index
  Description: Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), transcript variant 2, mRNA.
RefSeq Summary (NM_015216): This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016].
Transcript (Including UTRs)
   Position: hg19 chr5:102,465,010-102,539,224 Size: 74,215 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg19 chr5:102,465,294-102,537,335 Size: 72,042 Coding Exon Count: 29 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:102,465,010-102,539,224)mRNA (may differ from genome)Protein (1222 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeStanford SOURCEUniProtKB

-  MalaCards Disease Associations
  MalaCards Gene Search: PPIP5K2
Diseases sorted by gene-association score: autism spectrum disorder (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 4.56 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 129.12 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.90284-0.211 Picture PostScript Text
3' UTR -432.861889-0.229 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
  Pfam Domains:
PF00328 - Histidine phosphatase superfamily (branch 2)

SCOP Domains:
53254 - Phosphoglycerate mutase-like
56059 - Glutathione synthetase ATP-binding domain-like

ModBase Predicted Comparative 3D Structure on O43314-2
FrontTopSide
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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
 Gene Details Gene DetailsGene Details 
 Gene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  LF205317 - JP 2014500723-A/12820: Polycomb-Associated Non-Coding RNAs.
AB007893 - Homo sapiens KIAA0433 mRNA.
AK294787 - Homo sapiens cDNA FLJ61589 partial cds.
BC024591 - Homo sapiens histidine acid phosphatase domain containing 1, mRNA (cDNA clone MGC:9255 IMAGE:3913521), complete cds.
AB463068 - Synthetic construct DNA, clone: pF1KA0433, Homo sapiens HISPPD1 gene for histidine acid phosphatase domain containing 1, without stop codon, in Flexi system.
KJ893349 - Synthetic construct Homo sapiens clone ccsbBroadEn_02743 PPIP5K2 gene, encodes complete protein.
MA440894 - JP 2018138019-A/12820: Polycomb-Associated Non-Coding RNAs.
AK310544 - Homo sapiens cDNA, FLJ17586.
JD038165 - Sequence 19189 from Patent EP1572962.
JD350835 - Sequence 331859 from Patent EP1572962.
LF319178 - JP 2014500723-A/126681: Polycomb-Associated Non-Coding RNAs.
LF319177 - JP 2014500723-A/126680: Polycomb-Associated Non-Coding RNAs.
MA554755 - JP 2018138019-A/126681: Polycomb-Associated Non-Coding RNAs.
MA554754 - JP 2018138019-A/126680: Polycomb-Associated Non-Coding RNAs.
LF319175 - JP 2014500723-A/126678: Polycomb-Associated Non-Coding RNAs.
LF319174 - JP 2014500723-A/126677: Polycomb-Associated Non-Coding RNAs.
AK025159 - Homo sapiens cDNA: FLJ21506 fis, clone COL05717.
LF319173 - JP 2014500723-A/126676: Polycomb-Associated Non-Coding RNAs.
JD019468 - Sequence 492 from Patent EP1572962.
JD370710 - Sequence 351734 from Patent EP1572962.
JD032228 - Sequence 13252 from Patent EP1572962.
LF319160 - JP 2014500723-A/126663: Polycomb-Associated Non-Coding RNAs.
JQ313907 - Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2) mRNA, 3' UTR.
JD121484 - Sequence 102508 from Patent EP1572962.
AK027116 - Homo sapiens cDNA: FLJ23463 fis, clone HSI08540.
JD358615 - Sequence 339639 from Patent EP1572962.
JD164560 - Sequence 145584 from Patent EP1572962.
JD509569 - Sequence 490593 from Patent EP1572962.
JD324303 - Sequence 305327 from Patent EP1572962.
JD413899 - Sequence 394923 from Patent EP1572962.
MA554752 - JP 2018138019-A/126678: Polycomb-Associated Non-Coding RNAs.
MA554751 - JP 2018138019-A/126677: Polycomb-Associated Non-Coding RNAs.
MA554750 - JP 2018138019-A/126676: Polycomb-Associated Non-Coding RNAs.
MA554737 - JP 2018138019-A/126663: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43314 (Reactome details) participates in the following event(s):

R-HSA-1855216 IP6 is phosphorylated to 1-PP-IP5 by PPIP5K1/2 in the cytosol
R-HSA-1855182 5-PP-IP5 is phosphorylated to 1,5-(PP)2-IP4 by PPIP5K1/2 in the cytosol
R-HSA-1855167 Synthesis of pyrophosphates in the cytosol
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: HISPPD1, KIAA0433, NM_015216, NP_056031, O43314-2, uc003koe.3, VIP2
UCSC ID: uc003koe.4
RefSeq Accession: NM_015216
Protein: O43314-2, splice isoform of O43314 CCDS: CCDS34207.1, CCDS64212.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015216.3
exon count: 29CDS single in 3' UTR: no RNA size: 5842
ORF size: 3669CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7424.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.