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Aliases for PIP5K1C Gene

Aliases for PIP5K1C Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Gamma 2 3
  • PtdIns(4)P-5-Kinase 1 Gamma 3 4
  • PIP5K1-Gamma 3 4
  • EC 2.7.1.68 4 64
  • LCCS3 3 6
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Gamma 3
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type I Gamma 4
  • Diphosphoinositide Kinase 3
  • Type I PIP Kinase 3
  • PIP5K-GAMMA 3
  • PIP5KIgamma 4
  • PIP5Kgamma 3
  • KIAA0589 4
  • EC 2.7.1 64

External Ids for PIP5K1C Gene

Summaries for PIP5K1C Gene

Entrez Gene Summary for PIP5K1C Gene

  • This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]

GeneCards Summary for PIP5K1C Gene

PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Gamma) is a Protein Coding gene. Diseases associated with PIP5K1C include lethal congenital contractural syndrome 3 and congenital contractures. Among its related pathways are Regulation of actin cytoskeleton and Regulation of actin cytoskeleton. GO annotations related to this gene include 1-phosphatidylinositol-4-phosphate 5-kinase activity. An important paralog of this gene is PIP5KL1.

UniProtKB/Swiss-Prot for PIP5K1C 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 vesicle mediated transport, cell adhesion, cell polarization and cell migration. Together with PIP5K1A is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle transport. Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and exocytosis. Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2). Required for clathrin-coated pits assembly at the synapse. Participates in cell junction assembly. Modulates adherens junctions formation by facilitating CDH1 trafficking. Required for focal adhesion dynamics. Modulates the targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions. Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins. Required for uropodium formation and retraction of the cell rear during directed migration. Has a role in growth factor- stimulated directional cell migration and adhesion. Required for talin assembly into nascent adhesions forming at the leading edge toward the direction of the growth factor. Negative regulator of T-cell activation and adhesion. Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor. Together with PIP5K1A have a role during embryogenesis and together with PIP5K1B may have a role immediately after birth.

Gene Wiki entry for PIP5K1C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIP5K1C Gene

Genomics for PIP5K1C Gene

Genomic Location for PIP5K1C Gene

Start:
3,630,181 bp from pter
End:
3,700,486 bp from pter
Size:
70,306 bases
Orientation:
Minus strand

Genomic View for PIP5K1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIP5K1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP5K1C Gene

Proteins for PIP5K1C Gene

  • Protein details for PIP5K1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60331-PI51C_HUMAN
    Recommended name:
    Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
    Protein Accession:
    O60331
    Secondary Accessions:
    • B7Z9E7
    • C6GIJ7
    • C6GIJ8
    • Q7LE07

    Protein attributes for PIP5K1C Gene

    Size:
    668 amino acids
    Molecular mass:
    73260 Da
    Quaternary structure:
    • Interacts with TLN1 (By similarity). Interacts with TLN2; interaction stimulates lipid kinase activity. May compete with beta-integrins for the same binding site on TLN1 and TLN2. Interacts with ARF6. Interacts with AP2B1. Interacts with AP2M1; phosphorylation of PIP5K1C by CSK disrupts the interaction; clathrin competes with PIP5K1C (By similarity). Interacts with CDH1. Interacts with CSK (By similarity). Interacts with PLCG1; interaction is abolished upon EGF stimulation (By similarity).
    SequenceCaution:
    • Sequence=BAA25515.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PIP5K1C Gene

    Alternative splice isoforms for PIP5K1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP5K1C Gene

Proteomics data for PIP5K1C Gene at MOPED

Post-translational modifications for PIP5K1C Gene

  • Acetylation at Lys-265 and Lys-268 seems to decrease lipid kinase activity. Deacetylation of these sites by SIRT1 positively regulates the exocytosis of TSH-containing granules from pituitary cells.
  • Phosphorylation on Ser-650 negatively regulates binding to TLN2 and is strongly stimulated in mitosis. Phosphorylation on Tyr-649 is necessary for targeting to focal adhesions. Phosphorylation on Ser-650 and Tyr-649 are mutually exclusive. Phosphorylated by SYK and CSK (By similarity). Tyrosine phosphorylation is enhanced by PTK2 signaling. Phosphorylated at Tyr-639 upon EGF stimulation. Some studies suggest that phosphorylation on Tyr-649 enhances binding to tailins (TLN1 and TLN2). According to PubMed:15738269 phosphorylation at Tyr-649 does not directly enhance binding to tailins (TLN1 and TLN2) but may act indirectly by inhibiting phosphorylation at Ser-650.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys97 and Lys414

Other Protein References for PIP5K1C Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PIP5K1C Gene

UniProtKB/Swiss-Prot:

PI51C_HUMAN
Domain:
  • Contains 1 PIPK domain.:
    • O60331
genes like me logo Genes that share domains with PIP5K1C: view

Function for PIP5K1C Gene

Molecular function for PIP5K1C Gene

GENATLAS Biochemistry: phosphatidylinositol-4-phosphate 5-kinase,type I,gamma,highly expressed in the brain,lung and kidney
UniProtKB/Swiss-Prot CatalyticActivity: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate
UniProtKB/Swiss-Prot EnzymeRegulation: Activated by interaction with TLN2.
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 vesicle mediated transport, cell adhesion, cell polarization and cell migration. Together with PIP5K1A is required for phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle transport. Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and exocytosis. Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2). Required for clathrin-coated pits assembly at the synapse. Participates in cell junction assembly. Modulates adherens junctions formation by facilitating CDH1 trafficking. Required for focal adhesion dynamics. Modulates the targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions. Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins. Required for uropodium formation and retraction of the cell rear during directed migration. Has a role in growth factor- stimulated directional cell migration and adhesion. Required for talin assembly into nascent adhesions forming at the leading edge toward the direction of the growth factor. Negative regulator of T-cell activation and adhesion. Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor. Together with PIP5K1A have a role during embryogenesis and together with PIP5K1B may have a role immediately after birth.

Enzyme Numbers (IUBMB) for PIP5K1C Gene

Gene Ontology (GO) - Molecular Function for PIP5K1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23982733
GO:0005524 ATP binding IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity --
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity IEA --
GO:1990147 talin binding IEA --
genes like me logo Genes that share ontologies with PIP5K1C: view
genes like me logo Genes that share phenotypes with PIP5K1C: view

Animal Models for PIP5K1C Gene

MGI Knock Outs for PIP5K1C:

miRNA for PIP5K1C Gene

No data available for Transcription Factor Targeting and HOMER Transcription for PIP5K1C Gene

Localization for PIP5K1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIP5K1C Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Endomembrane system. Cytoplasm. Cell junction, focal adhesion. Cell junction, adherens junction. Cell projection, ruffle membrane. Cell projection, phagocytic cup. Cell projection, uropodium. Note=Detected in plasma membrane invaginations. Isoform 3 is detected in intracellular vesicle-like structures.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIP5K1C Gene COMPARTMENTS Subcellular localization image for PIP5K1C gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PIP5K1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA --
GO:0001931 uropod TAS 19889969
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
genes like me logo Genes that share ontologies with PIP5K1C: view

Pathways for PIP5K1C Gene

genes like me logo Genes that share pathways with PIP5K1C: view

Gene Ontology (GO) - Biological Process for PIP5K1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006909 phagocytosis TAS 19889969
GO:0007016 cytoskeletal anchoring at plasma membrane IEA --
GO:0007409 axonogenesis --
genes like me logo Genes that share ontologies with PIP5K1C: view

Compounds for PIP5K1C Gene

(3) HMDB Compounds for PIP5K1C Gene

Compound Synonyms Cas Number PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • 1-Phosphatidyl-1D-myo-inositol
Not Available
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Novoseek inferred chemical compound relationships for PIP5K1C Gene

Compound -log(P) Hits PubMed IDs
phosphocellulose 79.1 1
genes like me logo Genes that share compounds with PIP5K1C: view

Transcripts for PIP5K1C Gene

Unigene Clusters for PIP5K1C Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for PIP5K1C Gene

No ASD Table

Relevant External Links for PIP5K1C Gene

GeneLoc Exon Structure for
PIP5K1C
ECgene alternative splicing isoforms for
PIP5K1C

Expression for PIP5K1C Gene

mRNA expression in normal human tissues for PIP5K1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIP5K1C Gene

SOURCE GeneReport for Unigene cluster for PIP5K1C Gene Hs.282177

mRNA Expression by UniProt/SwissProt for PIP5K1C Gene

O60331-PI51C_HUMAN
Tissue specificity: Isoform 1 is strongly expressed in brain and also detected in heart and lung. Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities in brain, heart, lung and kidney. Isoform 3 is detected in large amounts in heart and large intestine, is also present in lung, pancreas and thyroid, and to a lesser extent in brain, stomach and kidney.
genes like me logo Genes that share expressions with PIP5K1C: view

Orthologs for PIP5K1C Gene

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

Orthologs for PIP5K1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIP5K1C 36
  • 97.94 (n)
  • 98.45 (a)
PIP5K1C 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIP5K1C 36
  • 89.69 (n)
  • 94.89 (a)
PIP5K1C 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIP5K1C 36
  • 89.59 (n)
  • 95.02 (a)
PIP5K1C 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pip5k1c 36
  • 87.41 (n)
  • 93.17 (a)
Pip5k1c 16
Pip5k1c 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIP5K1C 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIP5K1C 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pip5k1c 36
  • 86.36 (n)
  • 92.88 (a)
chicken
(Gallus gallus)
Aves PIP5K1C 36
  • 79.39 (n)
  • 89.14 (a)
PIP5K1C 37
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pip5k1c 36
  • 72.47 (n)
  • 83.61 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5845 36
zebrafish
(Danio rerio)
Actinopterygii pip5k1ca 37
  • 72 (a)
OneToMany
pip5k1cb 36
  • 72.97 (n)
  • 76.84 (a)
pip5k1cb 37
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta PIP5K59B 37
  • 36 (a)
ManyToMany
sktl 37
  • 36 (a)
ManyToMany
sktl 38
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea ppk-1 37
  • 43 (a)
OneToMany
ppk-1 38
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS4 37
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 71 (a)
OneToMany
Species with no ortholog for PIP5K1C:
  • 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)
  • lizard (Anolis carolinensis)
  • 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 PIP5K1C Gene

ENSEMBL:
Gene Tree for PIP5K1C (if available)
TreeFam:
Gene Tree for PIP5K1C (if available)

Paralogs for PIP5K1C Gene

Paralogs for PIP5K1C Gene

Selected SIMAP similar genes for PIP5K1C Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for PIP5K1C Gene

genes like me logo Genes that share paralogs with PIP5K1C: view

Variants for PIP5K1C Gene

Sequence variations from dbSNP and Humsavar for PIP5K1C Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs538243 -- 3,698,945(+) cccac(A/C)ccccc intron-variant
rs542462 -- 3,633,194(+) GGTGA(A/G)GGTGG intron-variant, downstream-variant-500B
rs542690 -- 3,633,275(+) ACTTA(C/G)CCCAC intron-variant, downstream-variant-500B
rs565289 -- 3,649,263(+) GCACC(A/G)TGCCC intron-variant
rs683698 -- 3,649,213(-) GGGCA(C/T)GGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIP5K1C Gene

Variant ID Type Subtype PubMed ID
nsv910722 CNV Loss 21882294
nsv910723 CNV Loss 21882294
dgv3651n71 CNV Loss 21882294
nsv470114 CNV Loss 18288195
dgv3655n71 CNV Loss 21882294
dgv3656n71 CNV Loss 21882294
dgv3657n71 CNV Loss 21882294
dgv3658n71 CNV Loss 21882294
dgv3660n71 CNV Loss 21882294
nsv910763 CNV Loss 21882294
nsv910764 CNV Loss 21882294
nsv910766 CNV Loss 21882294
dgv533e201 CNV Deletion 23290073
esv2717955 CNV Deletion 23290073
esv28172 CNV Gain 19812545
esv2717957 CNV Deletion 23290073
dgv534e201 CNV Deletion 23290073
dgv535e201 CNV Deletion 23290073
esv1403607 CNV Deletion 17803354
esv2717963 CNV Deletion 23290073
esv2717964 CNV Deletion 23290073
esv2717965 CNV Deletion 23290073
esv2717966 CNV Deletion 23290073
dgv3662n71 CNV Loss 21882294
nsv509718 CNV Insertion 20534489
esv2717967 CNV Deletion 23290073
nsv910768 CNV Loss 21882294
nsv828400 CNV Gain 20364138

Relevant External Links for PIP5K1C Gene

HapMap Linkage Disequilibrium report
PIP5K1C
Human Gene Mutation Database (HGMD)
PIP5K1C

Disorders for PIP5K1C Gene

(1) OMIM Diseases for PIP5K1C Gene (606102)

UniProtKB/Swiss-Prot

PI51C_HUMAN
  • Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. {ECO:0000269 PubMed:17701898}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIP5K1C

Genetic Association Database (GAD)
PIP5K1C
Human Genome Epidemiology (HuGE) Navigator
PIP5K1C
genes like me logo Genes that share disorders with PIP5K1C: view

Publications for PIP5K1C Gene

  1. Type I phosphatidylinositol-4-phosphate 5-kinases. Cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family. (PMID: 9535851) Ishihara H. … Oka Y. (J. Biol. Chem. 1998) 2 3
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  3. Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin. (PMID: 12422219) Di Paolo G. … De Camilli P. (Nature 2002) 3 4
  4. ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma. (PMID: 12847086) Krauss M. … Haucke V. (J. Cell Biol. 2003) 3 4
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4

Products for PIP5K1C Gene

Sources for PIP5K1C Gene

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