PIP5K1C Gene (Protein Coding)

Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma

GC19M003631
GIFtS:
50
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 contract... See more...

Aliases for PIP5K1C Gene

Aliases for PIP5K1C Gene

  • Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma 2 3 5
  • Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Gamma 2 3
  • Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Gamma 3 4
  • PtdIns(4)P-5-Kinase 1 Gamma 3 4
  • PIP5K1-Gamma 3 4
  • EC 2.7.1.68 4 52
  • 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 52
  • LCCS3 3

External Ids for PIP5K1C Gene

Previous GeneCards Identifiers for PIP5K1C Gene

  • GC19M003722
  • GC19M003570
  • GC19M003581
  • GC19M003395

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 1 Gamma) is a Protein Coding gene. Diseases associated with PIP5K1C include Lethal Congenital Contracture Syndrome 3 and Lethal Congenital Contracture Syndrome. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and GAB1 signalosome. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol phosphate kinase activity and talin binding. An important paralog of this gene is PIP5K1A.

UniProtKB/Swiss-Prot Summary 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 has a role during embryogenesis and together with PIP5K1B may have a role immediately after birth.

Gene Wiki entry for PIP5K1C Gene

Additional gene information for PIP5K1C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIP5K1C Gene

Genomics for PIP5K1C Gene

GeneHancer (GH) Regulatory Elements for PIP5K1C Gene

Promoters and enhancers for PIP5K1C 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
GH19J003697 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 512 +1.1 1121 3.3 CTCF SP1 ZNF639 ZIC2 POLR2A ZBTB10 ZBTB11 ZNF623 ZBTB26 REST PIP5K1C ENSG00000267304
GH19J003667 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +30.4 30448 5.6 FOS ZIC2 ZBTB10 ZBTB11 TARDBP REST ZNF740 MYC CTBP1 HINFP CACTIN-AS1 APBA3 PIP5K1C SH3GL1 HMG20B ENSG00000267255 CACTIN MAP2K2 NFIC EEF2
GH19J003604 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 6.7 +93.2 93237 5.3 NRF1 ZNF300 GTF2E2 ZIC2 ZNF423 ZBTB26 TARDBP KLF4 DNMT1 KLF7 CACTIN-AS1 TBXA2R ZNF77 CACTIN ZNF555 ENSG00000267030 YJU2 GNA11 ZNF554 HDGFL2
GH19J003707 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 7.9 -8.9 -8912 3.2 EP300 ZNF217 ZSCAN5C TCF12 POLR2G USF1 KDM6A CLOCK AFF1 ZBTB25 RF00017-2745 TJP3 PIP5K1C lnc-PIP5K1C-1
GH19J003657 Enhancer 0.6 ENCODE 15.9 +41.9 41908 1.3 FOXA2 ZNF316 MAFF MAFK RAD21 RXRA ZBTB33 HNF4A REST FOXA1 PIP5K1C CACTIN KX404988 piR-52507
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIP5K1C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIP5K1C

Top Transcription factor binding sites by QIAGEN in the PIP5K1C gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • ATF-2
  • ATF6
  • c-Jun
  • c-Myc
  • Max1

Genomic Locations for PIP5K1C Gene

Genomic Locations for PIP5K1C Gene
chr19:3,630,181-3,700,492
(GRCh38/hg38)
Size:
70,312 bases
Orientation:
Minus strand
chr19:3,630,179-3,700,477
(GRCh37/hg19)
Size:
70,299 bases
Orientation:
Minus strand

Genomic View for PIP5K1C Gene

Genes around PIP5K1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIP5K1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIP5K1C Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PIP5K1C Gene

Proteins for PIP5K1C Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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). Interacts with LAPTM4B; promotes SNX5 association with LAPTM4B; kinase activity of PIP5K1C is required; interaction is regulated by phosphatidylinositol 4,5-bisphosphate generated by PIP5K1C (PubMed:25588945).
    SequenceCaution:
    • Sequence=BAA25515.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Protein Expression for PIP5K1C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PIP5K1C Gene

O60331:
  • DFRFKTYAP
  • HKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYC
  • RDVLMQDFYVVES
  • ASQASDEE
  • PSEGSNLTPAHH
  • IMDYSLL
  • KTLQRDC
  • EPLIELSNPGASGS
  • GIIDILQ
  • KGAIQLGIGYTVG
  • QKALYSTA
  • DLKGSTYKRRAS
  • DGDTVSVHRP
  • DYSLLLG
  • ESGAAAG
  • AFRYFRELFGI
  • VLESFKIMDYSLLLG
  • LYSTAMESIQG

Post-translational modifications for PIP5K1C Gene

  • 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.
  • 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.
  • Ubiquitination at Lys97 and Lys414
  • Modification sites at PhosphoSitePlus

Other Protein References for PIP5K1C Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PIP5K1C Gene

Gene Families for PIP5K1C Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PIP5K1C Gene

Blocks:
  • Phosphatidylinositol-4-phosphate 5-kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIP5K1C Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol 4-phosphate 5-kinase type I gamma splice variant 707 (C6GIJ8_HUMAN)
  • Phosphatidylinositol-4-phosphate 5-kinase type I gamma (PI51C_HUMAN)
genes like me logo Genes that share domains with PIP5K1C: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIP5K1C Gene

Function for PIP5K1C Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PIP5K1C Gene

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 has a role during embryogenesis and together with PIP5K1B may have a role immediately after birth.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:14425, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.68;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by interaction with TLN2.
GENATLAS Biochemistry:
phosphatidylinositol-4-phosphate 5-kinase,type I,gamma,highly expressed in the brain,lung and kidney

Enzyme Numbers (IUBMB) for PIP5K1C Gene

Phenotypes From GWAS Catalog 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:0016301 kinase activity IEA --
GO:0016307 phosphatidylinositol phosphate kinase activity IEA --
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity TAS --
genes like me logo Genes that share ontologies with PIP5K1C: view
genes like me logo Genes that share phenotypes with PIP5K1C: view

Human Phenotype Ontology for PIP5K1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIP5K1C Gene

MGI Knock Outs for PIP5K1C:

Animal Model Products

  • Taconic Biosciences Mouse Models for PIP5K1C

Clone Products

No data available for Transcription Factor Targets 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
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 PIP5K1C gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PIP5K1C: view

Pathways & Interactions for PIP5K1C Gene

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

Pathways by source for PIP5K1C Gene

1 Sino Biological pathway for PIP5K1C Gene
6 GeneGo (Thomson Reuters) pathways for PIP5K1C Gene
  • Cell adhesion Integrin inside-out signaling
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling Integrin outside-in signaling
  • G-protein signaling RAC1 in cellular process
  • Immune response CD28 signaling
7 Qiagen pathways for PIP5K1C Gene
  • Actin-Based Motility by Rho Family GTPases
  • Aldosterone Signaling in Epithelial Cells
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Integrin Pathway
  • Rac1 Pathway
1 Cell Signaling Technology pathway for PIP5K1C Gene

SIGNOR curated interactions for PIP5K1C Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIP5K1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006887 exocytosis IEA --
GO:0006897 endocytosis IEA --
GO:0006909 phagocytosis TAS 19889969
GO:0006935 chemotaxis IEA --
genes like me logo Genes that share ontologies with PIP5K1C: view

Drugs & Compounds for PIP5K1C Gene

Products:

  1. Drug

(2) Drugs for PIP5K1C Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma 3220
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(3) Additional Compounds for PIP5K1C Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with PIP5K1C: view

Transcripts for PIP5K1C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PIP5K1C Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for PIP5K1C Gene

GeneLoc Exon Structure for
PIP5K1C

Expression for PIP5K1C Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIP5K1C Gene

mRNA expression in normal human tissues for PIP5K1C Gene
mRNA expression by BioGPS for PIP5K1C GenemRNA expression by GTEx for PIP5K1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIP5K1C Gene

This gene is overexpressed in Frontal cortex (42.8) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIP5K1C Gene



Protein tissue co-expression partners for PIP5K1C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIP5K1C

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.

Evidence on tissue expression from TISSUES for PIP5K1C Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP5K1C Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Thorax:
  • lung
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
genes like me logo Genes that share expression patterns with PIP5K1C: view

No data available for mRNA differential expression in normal tissues for PIP5K1C Gene

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 31 30
  • 97.94 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PIP5K1C 31 30
  • 89.69 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PIP5K1C 31 30
  • 89.59 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PIP5K1C 31
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pip5k1c 17 31 30
  • 87.41 (n)
rat
(Rattus norvegicus)
 Mammalia Pip5k1c 30
  • 86.36 (n)
oppossum
(Monodelphis domestica)
 Mammalia PIP5K1C 31
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PIP5K1C 31 30
  • 79.39 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pip5k1c 30
  • 72.47 (n)
zebrafish
(Danio rerio)
 Actinopterygii pip5k1cb 31 30
  • 72.97 (n)
 OneToMany
pip5k1ca 31
  • 72 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5845 30
fruit fly
(Drosophila melanogaster)
 Insecta PIP5K59B 31
  • 36 (a)
 ManyToMany
sktl 31 32
  • 36 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ppk-1 31 32
  • 43 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSS4 31
  • 19 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 71 (a)
 OneToMany
Species where no ortholog for PIP5K1C 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PIP5K1C: view image

Paralogs for PIP5K1C Gene

Paralogs for PIP5K1C Gene

(7) SIMAP similar genes for PIP5K1C Gene using alignment to 1 proteins:

  • PI51C_HUMAN

Pseudogenes.org Pseudogenes for PIP5K1C Gene

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

Variants for PIP5K1C Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIP5K1C Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
694416 Likely Benign: Lethal congenital contractural syndrome 3 3,648,688(-) A/G MISSENSE_VARIANT
708268 Benign: not provided 3,644,091(-) G/A SYNONYMOUS_VARIANT
708469 Benign: not provided 3,633,466(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
715835 Benign: not provided 3,644,181(-) G/A SYNONYMOUS_VARIANT
716239 Benign: not provided 3,633,475(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PIP5K1C Gene

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

Variant ID Type Subtype PubMed ID
dgv1977e59 CNV duplication 20981092
dgv492e201 CNV deletion 23290073
dgv493e201 CNV deletion 23290073
dgv494e201 CNV deletion 23290073
esv1403607 CNV deletion 17803354
esv2717955 CNV deletion 23290073
esv2717957 CNV deletion 23290073
esv2717963 CNV deletion 23290073
esv2717964 CNV deletion 23290073
esv2717965 CNV deletion 23290073
esv2717966 CNV deletion 23290073
esv2717967 CNV deletion 23290073
esv28172 CNV gain 19812545
esv3555884 CNV deletion 23714750
nsv1118806 CNV deletion 24896259
nsv1127643 CNV deletion 24896259
nsv470114 CNV loss 18288195
nsv509718 CNV insertion 20534489
nsv828400 CNV gain 20364138
nsv953948 CNV deletion 24416366

Variation tolerance for PIP5K1C Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIP5K1C Gene

Human Gene Mutation Database (HGMD)
PIP5K1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIP5K1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP5K1C Gene

Disorders for PIP5K1C Gene

MalaCards: The human disease database

(6) MalaCards diseases for PIP5K1C Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 3
  • lccs3
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
lethal congenital contracture syndrome 2
  • lccs2
neurogenic bladder
  • neurogenic dysfunction of the urinary bladder
cerebellar ataxia, cayman type
  • atcay
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for PIP5K1C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PIP5K1C: view

No data available for Genatlas for PIP5K1C Gene

Publications for PIP5K1C Gene

  1. LAPTM4B is a PtdIns(4,5)P2 effector that regulates EGFR signaling, lysosomal sorting, and degradation. (PMID: 25588945) Tan X … Anderson RA (The EMBO journal 2015) 3 4 54
  2. SIRT1 Regulates Thyroid-Stimulating Hormone Release by Enhancing PIP5Kgamma Activity through Deacetylation of Specific Lysine Residues in Mammals. (PMID: 20668706) Akieda-Asai S … Setou M (PloS one 2010) 3 4 54
  3. PIP5K-driven PtdIns(4,5)P2 synthesis: regulation and cellular functions. (PMID: 19889969) van den Bout I … Divecha N (Journal of cell science 2009) 3 4 54
  4. Two novel phosphatidylinositol-4-phosphate 5-kinase type Igamma splice variants expressed in human cells display distinctive cellular targeting. (PMID: 19548880) Schill NJ … Anderson RA (The Biochemical journal 2009) 3 4 54
  5. Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin. (PMID: 17261850) Ling K … Anderson RA (The Journal of cell biology 2007) 3 4 54

ExternalLinks

View latest publications for PIP5K1C gene in Mastermind

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Sources for PIP5K1C Gene