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Aliases for PIP5K1A Gene

Aliases for PIP5K1A Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Alpha 2 3
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, 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 63
  • 68 KDa Type I Phosphatidylinositol-4-Phosphate 5-Kinase Alpha 3
  • Phosphatidylinositol-4-Phosphate 5-Kinase Type-1 Alpha 3
  • EC 2.7.1 63

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 Signaling by GPCR and Metabolism. GO annotations related to this gene include kinase binding and 1-phosphatidylinositol-4-phosphate 5-kinase activity. An important paralog of this gene is PIP4K2B.

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

Regulatory Elements for PIP5K1A Gene

Promoters for PIP5K1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIP5K1A on UCSC Golden Path with GeneCards custom track

Genomic Location for PIP5K1A Gene

Chromosome:
1
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

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

Proteomics data for PIP5K1A Gene at MOPED

Post-translational modifications for PIP5K1A Gene

  • Ubiquitination at Lys 103
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PIP5K1A (PIP5K1A)

Domains & Families for PIP5K1A Gene

Gene Families for PIP5K1A Gene

Graphical View of Domain Structure for InterPro Entry

Q99755

UniProtKB/Swiss-Prot:

PI51A_HUMAN :
  • Contains 1 PIPK domain.
Domain:
  • Contains 1 PIPK domain.
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:0016307 phosphatidylinositol phosphate kinase activity IEA --
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity IEA,TAS 18305108
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for PIP5K1A Gene COMPARTMENTS Subcellular localization image for PIP5K1A gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PIP5K1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0016607 nuclear speck TAS 19889969
genes like me logo Genes that share ontologies with PIP5K1A: view

Pathways & Interactions for PIP5K1A Gene

SuperPathways 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 TAS --
GO:0006909 phagocytosis TAS 19889969
GO:0008654 phospholipid biosynthetic process IDA 15157668
GO:0010761 fibroblast migration IEA --
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:

Inhibitory RNA Products

Flow Cytometry 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 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, 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 expression patterns with PIP5K1A: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia PIP5K1A 35
  • 89.6 (n)
  • 92.7 (a)
PIP5K1A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIP5K1A 35
  • 91.84 (n)
  • 94.95 (a)
PIP5K1A 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pip5k1a 35
  • 87.3 (n)
  • 91.13 (a)
Pip5k1a 16
Pip5k1a 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIP5K1A 35
  • 99.81 (n)
  • 99.81 (a)
PIP5K1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pip5k1a 35
  • 87.36 (n)
  • 91.7 (a)
oppossum
(Monodelphis domestica)
Mammalia PIP5K1A 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC100857846 35
  • 74.65 (n)
  • 85 (a)
PIP5K1A 36
  • 67 (a)
OneToMany
PIP5K1A 36
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia PIP5K1A 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip5k1a 35
  • 71.49 (n)
  • 80.92 (a)
Str.20508 35
zebrafish
(Danio rerio)
Actinopterygii pip5k1ab 35
  • 67.37 (n)
  • 76.21 (a)
pip5k1aa 36
  • 58 (a)
OneToMany
pip5k1ab 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sktl 37
  • 53 (a)
PIP5K59B 35
  • 62.33 (n)
  • 67.5 (a)
PIP5K59B 36
  • 32 (a)
ManyToMany
sktl 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ppk-1 37
  • 57 (a)
ppk-1 35
  • 56.69 (n)
  • 61.13 (a)
ppk-1 36
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 36
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7172 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(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 Sequence Context AA Info Type
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

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)

Relevant External Links for PIP5K1A Gene

HapMap Linkage Disequilibrium report
PIP5K1A

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

Disorders for PIP5K1A Gene

Relevant External Links for PIP5K1A

Genetic Association Database (GAD)
PIP5K1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.C. … Anderson R.A. (J. Biol. Chem. 1996) 2 3 4 23 67
  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 BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 3

Products for PIP5K1A Gene

Sources for PIP5K1A Gene

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