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Aliases for PIP5K1A Gene

Aliases for PIP5K1A Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Alpha 2 3 5
  • 68 KDa Type I Phosphatidylinositol 4-Phosphate 5-Kinase Alpha 3 4
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type I Alpha 3 4
  • PtdIns(4)P-5-Kinase 1 Alpha 3 4
  • PIP5K1-Alpha 3 4
  • PIP5KIalpha 3 4
  • EC 2.7.1.68 4 56
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Alpha 2
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Alpha 3
  • EC 2.7.1 56

External Ids for PIP5K1A Gene

Previous GeneCards Identifiers for PIP5K1A Gene

  • GC01P149012
  • GC01P146918
  • GC01P147946
  • GC01P148387
  • GC01P147984
  • GC01P149437
  • GC01P122549

Summaries for PIP5K1A Gene

GeneCards Summary for PIP5K1A Gene

PIP5K1A (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Alpha) is a Protein Coding gene. Among its related pathways are RET signaling and RhoA signaling pathway. Gene Ontology (GO) annotations related to this gene include kinase binding and 1-phosphatidylinositol-4-phosphate 5-kinase activity. An important paralog of this gene is PIP5K1C.

UniProtKB/Swiss-Prot for PIP5K1A Gene

  • Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organization, cell adhesion, migration and phagocytosis. Required for membrane ruffling formation, actin organization and focal adhesion formation during directional cell migration by controlling integrin-induced translocation of RAC1 to the plasma membrane. Together with PIP5K1C is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle ingestion by activating WAS that induces Arp2/3 dependent actin polymerization at the nascent phagocytic cup. Together with PIP5K1B is required after stimulation of G-protein coupled receptors for stable platelet adhesion. Plays a role during calcium-induced keratinocyte differentiation. Recruited to the plasma membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of PtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphate that mobilize internal calcium and drive keratinocyte differentiation. Together with PIP5K1C have a role during embryogenesis. Functions also in the nucleus where acts as an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a select set of mRNAs.

Gene Wiki entry for PIP5K1A Gene

Additional gene information for PIP5K1A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIP5K1A Gene

Genomics for PIP5K1A Gene

GeneHancer (GH) Regulatory Elements for PIP5K1A Gene

Promoters and enhancers for PIP5K1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I151193 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567.8 -0.3 -303 7.7 PKNOX1 CLOCK FOXA2 SMAD1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B PIP5K1A ZNF687 LYSMD1 ARNT RPRD2 PRPF3 SETDB1 BNIPL PSMD4 CTSK
GH01I150232 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 90 -962.8 -962813 4.8 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ANP32E GC01P150237 RNU2-17P SETDB1 PRPF3 PIP5K1A GABPB2 SF3B4 ARNT UBE2D3P3
GH01I151068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 71.6 -127.5 -127463 3.3 CLOCK FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GABPB2 CDC42SE1 PRPF3 SETDB1 PI4KB PIP5K1A MRPL9 UBE2D3P3 ARNT CTSK
GH01I151940 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 74.8 +746.1 746149 7.6 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B ZNF416 FOS POGZ GABPB2 PI4KB MRPL9 PIP5K1A LYSMD1 ENSG00000229021 HRNR THEM4 ZNF687
GH01I150969 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 49.8 -223.0 -222992 10.6 CLOCK MLX ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 SSRP1 GLIS1 CERS2 ENSG00000231073 PRPF3 SETDB1 ZNF687 HORMAD1 PIP5K1A ARNT GOLPH3L PI4KB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIP5K1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIP5K1A gene promoter:

Genomic Locations for PIP5K1A Gene

Genomic Locations for PIP5K1A Gene
chr1:151,197,949-151,249,536
(GRCh38/hg38)
Size:
51,588 bases
Orientation:
Plus strand
chr1:151,170,425-151,222,012
(GRCh37/hg19)

Genomic View for PIP5K1A Gene

Genes around PIP5K1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIP5K1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIP5K1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP5K1A Gene

Proteins for PIP5K1A Gene

  • Protein details for PIP5K1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99755-PI51A_HUMAN
    Recommended name:
    Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha
    Protein Accession:
    Q99755
    Secondary Accessions:
    • A8K4Q0
    • B4DIN0
    • Q99754
    • Q99756

    Protein attributes for PIP5K1A Gene

    Size:
    562 amino acids
    Molecular mass:
    62633 Da
    Quaternary structure:
    • Interacts with RAC1 (By similarity). Interacts with TUT1. Forms a complex with CDH1/E-cadherin, CTNNB1/beta-catenin and CTNND1 at the plasma membrane upon calcium stimulation.

    Alternative splice isoforms for PIP5K1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP5K1A Gene

Selected DME Specific Peptides for PIP5K1A Gene

Q99755:
  • RDVLMQDFYVVES
  • IMDYSLL
  • KTLQRDC
  • GIIDILQ
  • QKALYSTA
  • DGDTVSVHRP
  • PTFKDLDFLQD
  • DFRFKTYAP
  • HKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYC
  • NIRIVVMNN
  • PSEGSNLTPAHH
  • KKLEHSWKALV
  • DLKGSTYKRRAS
  • AFRYFRELFGI
  • LYSTAMESIQG

Post-translational modifications for PIP5K1A Gene

  • Ubiquitination at isoforms=2, 3, 4103

Domains & Families for PIP5K1A Gene

Gene Families for PIP5K1A Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PIP5K1A: view

No data available for UniProtKB/Swiss-Prot for PIP5K1A Gene

Function for PIP5K1A Gene

Molecular function for PIP5K1A Gene

GENATLAS Biochemistry:
phosphatidylinositol-4-phosphate-5 kinase,type 1 alpha,widely expressed,noteworthy in erythrocytes,activated by the small G protein ADP-ribosylation factor ARF6,and putatively involved in membrane ruffle formation
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organization, cell adhesion, migration and phagocytosis. Required for membrane ruffling formation, actin organization and focal adhesion formation during directional cell migration by controlling integrin-induced translocation of RAC1 to the plasma membrane. Together with PIP5K1C is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle ingestion by activating WAS that induces Arp2/3 dependent actin polymerization at the nascent phagocytic cup. Together with PIP5K1B is required after stimulation of G-protein coupled receptors for stable platelet adhesion. Plays a role during calcium-induced keratinocyte differentiation. Recruited to the plasma membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of PtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphate that mobilize internal calcium and drive keratinocyte differentiation. Together with PIP5K1C have a role during embryogenesis. Functions also in the nucleus where acts as an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a select set of mRNAs.

Enzyme Numbers (IUBMB) for PIP5K1A Gene

Phenotypes From GWAS Catalog for PIP5K1A Gene

Gene Ontology (GO) - Molecular Function for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity TAS --
GO:0005515 protein binding IPI 18288197
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
genes like me logo Genes that share ontologies with PIP5K1A: view
genes like me logo Genes that share phenotypes with PIP5K1A: view

Animal Models for PIP5K1A Gene

MGI Knock Outs for PIP5K1A:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIP5K1A Gene

Localization for PIP5K1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIP5K1A Gene

Cell membrane. Cytoplasm. Nucleus speckle. Cell projection, ruffle. Note=Colocalizes with RAC1 at actin-rich membrane ruffles. Localizes to nuclear speckles and associates with TUT1 to regulate polyadenylation of selected mRNAs.

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 PIP5K1A gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005634 nucleus IDA,IEA 15157668
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with PIP5K1A: view

Pathways & Interactions for PIP5K1A Gene

genes like me logo Genes that share pathways with PIP5K1A: view

SIGNOR curated interactions for PIP5K1A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006650 glycerophospholipid metabolic process TAS 8955136
GO:0006661 phosphatidylinositol biosynthetic process IEA,TAS --
GO:0006909 phagocytosis TAS 19889969
GO:0007165 signal transduction TAS 8955136
GO:0008654 phospholipid biosynthetic process IDA 15157668
genes like me logo Genes that share ontologies with PIP5K1A: view

Drugs & Compounds for PIP5K1A Gene

(3) Additional Compounds for PIP5K1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PIP5K1A: view

Transcripts for PIP5K1A Gene

Unigene Clusters for PIP5K1A Gene

Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIP5K1A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6: -
SP7:

Relevant External Links for PIP5K1A Gene

GeneLoc Exon Structure for
PIP5K1A
ECgene alternative splicing isoforms for
PIP5K1A

Expression for PIP5K1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIP5K1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIP5K1A Gene

This gene is overexpressed in Placenta (16.0), Frontal cortex (14.0), Testis (12.3), and Plasma (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIP5K1A Gene



NURSA nuclear receptor signaling pathways regulating expression of PIP5K1A Gene:

PIP5K1A

SOURCE GeneReport for Unigene cluster for PIP5K1A Gene:

Hs.655131

mRNA Expression by UniProt/SwissProt for PIP5K1A Gene:

Q99755-PI51A_HUMAN
Tissue specificity: Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in brain, lung and liver.

Evidence on tissue expression from TISSUES for PIP5K1A Gene

  • Nervous system(4.8)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with PIP5K1A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP5K1A Gene

Orthologs for PIP5K1A Gene

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

Orthologs for PIP5K1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIP5K1A 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia PIP5K1A 33 34
  • 91.84 (n)
cow
(Bos Taurus)
Mammalia PIP5K1A 33 34
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Pip5k1a 33
  • 87.36 (n)
mouse
(Mus musculus)
Mammalia Pip5k1a 33 16 34
  • 87.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia PIP5K1A 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857846 33
  • 74.65 (n)
PIP5K1A 34 34
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia PIP5K1A 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip5k1a 33
  • 71.49 (n)
Str.20508 33
zebrafish
(Danio rerio)
Actinopterygii pip5k1ab 33 34
  • 67.37 (n)
pip5k1aa 34
  • 58 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta PIP5K59B 33 34
  • 62.33 (n)
sktl 35 34
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea ppk-1 35 33 34
  • 56.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 70 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7172 33
Species where no ortholog for PIP5K1A 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PIP5K1A Gene

ENSEMBL:
Gene Tree for PIP5K1A (if available)
TreeFam:
Gene Tree for PIP5K1A (if available)

Paralogs for PIP5K1A Gene

Paralogs for PIP5K1A Gene

(7) SIMAP similar genes for PIP5K1A Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for PIP5K1A Gene

genes like me logo Genes that share paralogs with PIP5K1A: view

Variants for PIP5K1A Gene

Sequence variations from dbSNP and Humsavar for PIP5K1A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000200659 -- 151,249,500(+) T/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000216773 -- 151,231,411(+) C/T intron_variant
rs1000253140 -- 151,237,439(+) T/A intron_variant
rs1000259226 -- 151,207,694(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000271599 -- 151,223,833(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PIP5K1A Gene

Variant ID Type Subtype PubMed ID
dgv2n68 CNV loss 17160897
esv2717840 CNV deletion 23290073
esv3587521 CNV loss 21293372
esv3587522 CNV gain 21293372
nsv522840 CNV gain 19592680

Variation tolerance for PIP5K1A Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIP5K1A Gene

Human Gene Mutation Database (HGMD)
PIP5K1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIP5K1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP5K1A Gene

Disorders for PIP5K1A Gene

Additional Disease Information for PIP5K1A

No disorders were found for PIP5K1A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIP5K1A Gene

Publications for PIP5K1A Gene

  1. Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. (PMID: 8955136) Loijens JC … Anderson RA (The Journal of biological chemistry 1996) 2 3 4 22 58
  2. Assignment of type I phosphatidylinositol-4-phosphate 5-kinase (PIP5K1A) to human chromosome bands 1q22--> q24 by in situ hybridization. (PMID: 10828584) Xie Y … Zhao G (Cytogenetics and cell genetics 2000) 2 3 22 58
  3. Type I PIPK-alpha regulates directed cell migration by modulating Rac1 plasma membrane targeting and activation. (PMID: 20660631) Chao WT … Kunz J (The Journal of cell biology 2010) 3 4 58
  4. Phosphatidylinositol-4-phosphate 5-kinase 1alpha mediates extracellular calcium-induced keratinocyte differentiation. (PMID: 19158393) Xie Z … Bikle DD (Molecular biology of the cell 2009) 3 4 58
  5. A PtdIns4,5P2-regulated nuclear poly(A) polymerase controls expression of select mRNAs. (PMID: 18288197) Mellman DL … Anderson RA (Nature 2008) 3 4 58

Products for PIP5K1A Gene

Sources for PIP5K1A Gene