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Aliases for PPIP5K1 Gene

Aliases for PPIP5K1 Gene

  • Diphosphoinositol Pentakisphosphate Kinase 1 2 3 4 5
  • Histidine Acid Phosphatase Domain-Containing Protein 2A 3 4
  • Histidine Acid Phosphatase Domain Containing 2A 2 3
  • Inositol Pyrophosphate Synthase 1 3 4
  • InsP6 And PP-IP5 Kinase 1 3 4
  • VIP1 Homolog 3 4
  • IP6 Kinase 3 4
  • HISPPD2A 3 4
  • HsVIP1 3 4
  • IPS1 3 4
  • IP6K 3 4
  • VIP1 3 4
  • Inositol Hexakisphosphate And Diphosphoinositol-Pentakisphosphate Kinase 1 3
  • EC 2.7.4.21 4
  • EC 2.7.4.24 4
  • KIAA0377 4

External Ids for PPIP5K1 Gene

Previous HGNC Symbols for PPIP5K1 Gene

  • HISPPD2A

Previous GeneCards Identifiers for PPIP5K1 Gene

  • GC15M043826
  • GC15M020673

Summaries for PPIP5K1 Gene

Entrez Gene Summary for PPIP5K1 Gene

  • This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]

GeneCards Summary for PPIP5K1 Gene

PPIP5K1 (Diphosphoinositol Pentakisphosphate Kinase 1) is a Protein Coding gene. Among its related pathways are Inositol phosphate metabolism (REACTOME) and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include acid phosphatase activity and inositol hexakisphosphate 1-kinase activity. An important paralog of this gene is PPIP5K2.

UniProtKB/Swiss-Prot for PPIP5K1 Gene

  • Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPIP5K1 Gene

Genomics for PPIP5K1 Gene

Regulatory Elements for PPIP5K1 Gene


Promoters for PPIP5K1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075858 372 1001 CTCF ZBTB33 RAD21

Genomic Location for PPIP5K1 Gene

Chromosome:
15
Start:
43,533,462 bp from pter
End:
43,590,272 bp from pter
Size:
56,811 bases
Orientation:
Minus strand

Genomic View for PPIP5K1 Gene

Genes around PPIP5K1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPIP5K1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPIP5K1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPIP5K1 Gene

Proteins for PPIP5K1 Gene

  • Protein details for PPIP5K1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PFW1-VIP1_HUMAN
    Recommended name:
    Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
    Protein Accession:
    Q6PFW1
    Secondary Accessions:
    • O15082
    • Q5HYF8
    • Q7Z3A7
    • Q86TE7
    • Q86UV3
    • Q86UV4
    • Q86XW8
    • Q8IZN0

    Protein attributes for PPIP5K1 Gene

    Size:
    1433 amino acids
    Molecular mass:
    159521 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA20831.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPIP5K1 Gene

neXtProt entry for PPIP5K1 Gene

Post-translational modifications for PPIP5K1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPIP5K1 Gene

Domains & Families for PPIP5K1 Gene

Suggested Antigen Peptide Sequences for PPIP5K1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PFW1

UniProtKB/Swiss-Prot:

VIP1_HUMAN :
  • The C-terminal acid phosphatase-like domain binds PtdIns(3,4,5)P3 and InsP6. Despite its similarity with the phosphatase domain of histidine acid phosphatases, it has no phosphatase activity.
  • Belongs to the histidine acid phosphatase family. VIP1 subfamily.
Domain:
  • The C-terminal acid phosphatase-like domain binds PtdIns(3,4,5)P3 and InsP6. Despite its similarity with the phosphatase domain of histidine acid phosphatases, it has no phosphatase activity.
Family:
  • Belongs to the histidine acid phosphatase family. VIP1 subfamily.
genes like me logo Genes that share domains with PPIP5K1: view

No data available for Gene Families for PPIP5K1 Gene

Function for PPIP5K1 Gene

Molecular function for PPIP5K1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.12 uM for InsP6 {ECO:0000269 PubMed:17690096, ECO:0000269 PubMed:17702752, ECO:0000269 PubMed:21222653}; KM=0.10 uM for InsP7 {ECO:0000269 PubMed:17690096, ECO:0000269 PubMed:17702752, ECO:0000269 PubMed:21222653}; Vmax=0.03 nmol/min/mg enzyme with InsP6 as substrate {ECO:0000269 PubMed:17690096, ECO:0000269 PubMed:17702752, ECO:0000269 PubMed:21222653}; Vmax=0.13 nmol/min/mg enzyme with InsP7 as substrate {ECO:0000269 PubMed:17690096, ECO:0000269 PubMed:17702752, ECO:0000269 PubMed:21222653}; Note=The catalytic efficiency is 80 folds higher for 5-PP-InsP5 (InsP7) compared to InsP6.;
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 5-diphosphate 1,2,3,4,6-pentakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 1-diphosphate 2,3,4,5,6-pentakisphosphate = ADP + 1D-myo-inositol 1,5-bis(diphosphate) 2,3,4,6-tetrakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 5-diphosphate 1,2,3,4,6-pentakisphosphate = ADP + 1D-myo-inositol 1,5-bis(diphosphate) 2,3,4,6-tetrakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 1-diphosphate 2,3,4,5,6-pentakisphosphate.
UniProtKB/Swiss-Prot Function:
Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress.

Enzyme Numbers (IUBMB) for PPIP5K1 Gene

Gene Ontology (GO) - Molecular Function for PPIP5K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity IDA 17412958
GO:0000828 inositol hexakisphosphate kinase activity TAS --
GO:0000829 inositol heptakisphosphate kinase activity TAS --
GO:0000832 inositol hexakisphosphate 5-kinase activity IDA 17412958
GO:0003993 acid phosphatase activity IEA --
genes like me logo Genes that share ontologies with PPIP5K1: view
genes like me logo Genes that share phenotypes with PPIP5K1: view

Animal Model Products

CRISPR Products

miRNA for PPIP5K1 Gene

miRTarBase miRNAs that target PPIP5K1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPIP5K1 Gene

Localization for PPIP5K1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIP5K1 Gene

Cytoplasm, cytosol. Cell membrane. Note=Relocalizes to the plasma membrane upon activation of the PtdIns 3-kinase pathway. {ECO:0000269 PubMed:21222653}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPIP5K1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PPIP5K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PPIP5K1: view

Pathways & Interactions for PPIP5K1 Gene

genes like me logo Genes that share pathways with PPIP5K1: view

Pathways by source for PPIP5K1 Gene

Gene Ontology (GO) - Biological Process for PPIP5K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006020 inositol metabolic process IDA 17412958
GO:0016310 phosphorylation IEA --
GO:0016311 dephosphorylation IEA --
GO:0032958 inositol phosphate biosynthetic process IBA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PPIP5K1: view

No data available for SIGNOR curated interactions for PPIP5K1 Gene

Drugs & Compounds for PPIP5K1 Gene

(1) Drugs for PPIP5K1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for PPIP5K1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Diphosphoinositol pentakisphosphate
  • 1,2,3,4,6-Pentakis-O-phosphono-1D-myo-inositol 5-(trihydrogen diphosphate)
  • 1D-Myo-inositol 5-diphosphate pentakisphosphate
  • 5-Diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate
  • 5-Diphospho-1D-myo-inositol pentakisphosphate
  • 5-PP-InsP5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PPIP5K1: view

Transcripts for PPIP5K1 Gene

mRNA/cDNA for PPIP5K1 Gene

Unigene Clusters for PPIP5K1 Gene

Diphosphoinositol pentakisphosphate kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPIP5K1 Gene

No ASD Table

Relevant External Links for PPIP5K1 Gene

GeneLoc Exon Structure for
PPIP5K1
ECgene alternative splicing isoforms for
PPIP5K1

Expression for PPIP5K1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPIP5K1 Gene

mRNA differential expression in normal tissues according to GTEx for PPIP5K1 Gene

This gene is overexpressed in Brain - Cerebellum (x5.4) and Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for PPIP5K1 Gene

This gene is overexpressed in Stomach (38.2) and Pancreas (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPIP5K1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PPIP5K1 Gene:

PPIP5K1

SOURCE GeneReport for Unigene cluster for PPIP5K1 Gene:

Hs.156814

mRNA Expression by UniProt/SwissProt for PPIP5K1 Gene:

Q6PFW1-VIP1_HUMAN
Tissue specificity: Widely expressed, with a higher expression in skeletal muscle, heart and brain.

Evidence on tissue expression from TISSUES for PPIP5K1 Gene

  • Nervous system(4.8)
  • Bone marrow(4.1)
  • Eye(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with PPIP5K1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPIP5K1 Gene

Orthologs for PPIP5K1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPIP5K1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPIP5K1 35
  • 100 (a)
OneToOne
LOC100608132 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia PPIP5K1 34 35
  • 92.46 (n)
cow
(Bos Taurus)
Mammalia PPIP5K1 34 35
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Ppip5k1 34
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Ppip5k1 34 16 35
  • 88.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPIP5K1 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPIP5K1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPIP5K1 34 35
  • 74.68 (n)
lizard
(Anolis carolinensis)
Reptilia PPIP5K1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppip5k1 34
  • 70.4 (n)
zebrafish
(Danio rerio)
Actinopterygii ppip5k1b 35
  • 73 (a)
OneToMany
ppip5k1 34
  • 70.9 (n)
PPIP5K1 (2 of 2) 35
  • 70 (a)
OneToMany
Dr.18371 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5381 34
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0196 35
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46F11.1 35
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VIP1 35 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.643 35
  • 61 (a)
OneToMany
Species where no ortholog for PPIP5K1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPIP5K1 Gene

ENSEMBL:
Gene Tree for PPIP5K1 (if available)
TreeFam:
Gene Tree for PPIP5K1 (if available)

Paralogs for PPIP5K1 Gene

Paralogs for PPIP5K1 Gene

(1) SIMAP similar genes for PPIP5K1 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for PPIP5K1 Gene

genes like me logo Genes that share paralogs with PPIP5K1: view

Variants for PPIP5K1 Gene

Sequence variations from dbSNP and Humsavar for PPIP5K1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000048187 -- 43,533,933(+) TATTG(C/T)CCAGA utr-variant-3-prime
rs1000140531 -- 43,563,035(+) CTAAA(A/G)AACCT intron-variant
rs1000327933 -- 43,540,193(+) GTTGC(A/G)GTGAG intron-variant
rs1000331662 -- 43,558,378(+) GCACA(C/T)CACCG intron-variant
rs1000381673 -- 43,539,789(+) AAAAA(A/G)TAGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPIP5K1 Gene

Variant ID Type Subtype PubMed ID
dgv2583n100 CNV loss 25217958
dgv45e203 CNV gain+loss 21179565
dgv732e212 CNV loss 25503493
esv24113 CNV gain+loss 19812545
esv2760028 CNV gain+loss 17122850
esv3569487 CNV gain 25503493
nsv1039949 CNV gain 25217958
nsv1070270 CNV deletion 25765185
nsv1160289 CNV deletion 26073780
nsv1514 CNV deletion 18451855
nsv428304 CNV loss 18775914
nsv437799 CNV loss 16327808
nsv509569 CNV insertion 20534489
nsv514779 CNV gain 21397061
nsv518707 CNV loss 19592680
nsv524910 CNV loss 19592680
nsv827312 CNV gain 20364138
nsv832988 CNV loss 17160897
nsv9246 CNV loss 18304495
nsv9248 CNV loss 18304495
nsv974568 CNV duplication 23825009

Variation tolerance for PPIP5K1 Gene

Gene Damage Index Score: 2.16; 39.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPIP5K1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPIP5K1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPIP5K1 Gene

Disorders for PPIP5K1 Gene

Relevant External Links for PPIP5K1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPIP5K1

No disorders were found for PPIP5K1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPIP5K1 Gene

Publications for PPIP5K1 Gene

  1. Structural analysis and detection of biological inositol pyrophosphates reveal that the family of VIP/diphosphoinositol pentakisphosphate kinases are 1/3-kinases. (PMID: 18981179) Lin H. … Mayr G.W. (J. Biol. Chem. 2009) 2 3 4 64
  2. A conserved family of enzymes that phosphorylate inositol hexakisphosphate. (PMID: 17412958) Mulugu S. … York J.D. (Science 2007) 2 3 4 64
  3. Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. (PMID: 17690096) Fridy P.C. … York J.D. (J. Biol. Chem. 2007) 2 3 4 64
  4. Receptor-dependent compartmentalization of PPIP5K1, a kinase with a cryptic polyphosphoinositide binding domain. (PMID: 21222653) Gokhale N.A. … Shears S.B. (Biochem. J. 2011) 3 4 64
  5. Purification, sequencing, and molecular identification of a mammalian PP-InsP5 kinase that is activated when cells are exposed to hyperosmotic stress. (PMID: 17702752) Choi J.H. … Shears S.B. (J. Biol. Chem. 2007) 3 4 64

Products for PPIP5K1 Gene

Sources for PPIP5K1 Gene

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