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Aliases for PIP5K1A Gene

Aliases for PIP5K1A Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Alpha 2 3
  • 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 64
  • 68 KDa Type I Phosphatidylinositol-4-Phosphate 5-Kinase Alpha 3
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Alpha 3
  • Phosphatidylinositol-4-Phosphate 5-Kinase Type-1 Alpha 3
  • EC 2.7.1 64

External Ids for PIP5K1A Gene

Summaries for PIP5K1A Gene

GeneCards Summary for PIP5K1A Gene

PIP5K1A (Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Alpha) is a Protein Coding gene. Among its related pathways are Regulation of actin cytoskeleton and Regulation of actin cytoskeleton. GO annotations related to this gene include kinase binding and 1-phosphatidylinositol-4-phosphate 5-kinase activity. An important paralog of this gene is PIP5KL1.

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

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

Genomics for PIP5K1A Gene

Genomic Location for PIP5K1A Gene

Start:
151,197,949 bp from pter
End:
151,249,536 bp from pter
Size:
51,588 bases
Orientation:
Plus strand

Genomic View for PIP5K1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIP5K1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP5K1A Gene

Regulatory Elements 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

Proteomics data for PIP5K1A Gene at MOPED

Post-translational modifications for PIP5K1A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys103

Domains for PIP5K1A Gene

UniProtKB/Swiss-Prot:

PI51A_HUMAN
Domain:
  • Contains 1 PIPK domain.:
    • Q99755
genes like me logo Genes that share domains with PIP5K1A: view

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

Gene Ontology (GO) - Molecular Function for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18288197
GO:0005524 ATP binding IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity --
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity TAS 18305108
GO:0019900 kinase binding IDA 15157668
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:

No data available for Transcription Factor Targeting 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
Jensen Localization Image for PIP5K1A Gene COMPARTMENTS Subcellular localization image for PIP5K1A gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15157668
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005847 colocalizes_with mRNA cleavage and polyadenylation specificity factor complex IDA 18305108
genes like me logo Genes that share ontologies with PIP5K1A: view

Pathways for PIP5K1A Gene

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

Gene Ontology (GO) - Biological Process for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006650 glycerophospholipid metabolic process TAS 8955136
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006909 phagocytosis TAS 19889969
GO:0007165 signal transduction TAS 8955136
genes like me logo Genes that share ontologies with PIP5K1A: view

Compounds for PIP5K1A Gene

(3) Novoseek inferred chemical compound relationships for PIP5K1A Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol phosphate 86.6 1
pip2 72.2 3
lipid 28.3 2
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:

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 for PIP5K1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIP5K1A Gene

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

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 36
  • 99.81 (n)
  • 99.81 (a)
PIP5K1A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIP5K1A 36
  • 89.6 (n)
  • 92.7 (a)
PIP5K1A 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIP5K1A 36
  • 91.84 (n)
  • 94.95 (a)
PIP5K1A 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pip5k1a 36
  • 87.3 (n)
  • 91.13 (a)
Pip5k1a 16
Pip5k1a 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIP5K1A 37
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 76 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Pip5k1a 36
  • 87.36 (n)
  • 91.7 (a)
chicken
(Gallus gallus)
Aves LOC100857846 36
  • 74.65 (n)
  • 85 (a)
PIP5K1A 37
  • 67 (a)
OneToMany
PIP5K1A 37
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia PIP5K1A 37
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip5k1a 36
  • 71.49 (n)
  • 80.92 (a)
Str.20508 36
zebrafish
(Danio rerio)
Actinopterygii pip5k1aa 37
  • 58 (a)
OneToMany
pip5k1ab 36
  • 67.37 (n)
  • 76.21 (a)
pip5k1ab 37
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta PIP5K59B 36
  • 62.33 (n)
  • 67.5 (a)
PIP5K59B 37
  • 32 (a)
ManyToMany
sktl 37
  • 36 (a)
ManyToMany
sktl 38
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea ppk-1 36
  • 56.69 (n)
  • 61.13 (a)
ppk-1 37
  • 42 (a)
OneToMany
ppk-1 38
  • 57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 37
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7172 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 70 (a)
OneToMany
Species with no ortholog for PIP5K1A:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs1140942 -- 151,243,572(+) GCCTC(A/T)AAGCA intron-variant
rs1892196 -- 151,221,421(+) AAGCA(A/G)TTAAC intron-variant
rs2298263 -- 151,232,156(-) TGGTG(C/G)GGGGA intron-variant
rs3842532 -- 151,239,924(+) CCTCC(-/CTT/TCT/TTC)TAACT intron-variant
rs4291501 -- 151,196,681(+) tccgg(C/G)gtagc upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv522840 CNV Gain 19592680
dgv2n68 CNV Loss 17160897
esv2717840 CNV Deletion 23290073

Relevant External Links for PIP5K1A Gene

HapMap Linkage Disequilibrium report
PIP5K1A

Disorders for PIP5K1A Gene

Relevant External Links for PIP5K1A

Genetic Association Database (GAD)
PIP5K1A
genes like me logo Genes that share disorders with PIP5K1A: view

No data available for UniProtKB/Swiss-Prot 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 J.C. … Anderson R.A. (J. Biol. Chem. 1996) 2 3 4 23
  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. (Cytogenet. Cell Genet. 2000) 2 3 23
  3. Regulation of apoptosis by phosphatidylinositol 4,5-bisphosphate inhibition of caspases, and caspase inactivation of phosphatidylinositol phosphate 5-kinases. (PMID: 11042212) Mejillano M. … Yin H.L. (J. Biol. Chem. 2001) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for PIP5K1A Gene

Sources for PIP5K1A Gene

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