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
- PtdIns(4)P-5-Kinase 1 Gamma 3 4
- PIP5K1-Gamma 3 4
- 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
External Ids for PIP5K1C Gene
- HGNC: 8996
- Entrez Gene: 23396
- Ensembl: ENSG00000186111
- OMIM: 606102
- UniProtKB: O60331
Previous GeneCards Identifiers for PIP5K1C Gene
- GC19M003722
- GC19M003570
- GC19M003581
- GC19M003395
Summaries 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 Focal Adhesion and Nectin adhesion pathway. 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 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.
Additional gene information for PIP5K1C Gene
- Monarch Initiative
- Search for PIP5K1C at DataMed
- Search for PIP5K1C at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIP5K1C Gene
Genomics for PIP5K1C Gene
GeneHancer (GH) Regulatory Elements for PIP5K1C Gene
Promoters and enhancers for PIP5K1C Gene
- 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
- Top Transcription factor binding sites by QIAGEN in the PIP5K1C gene promoter:
-
- AP-2alphaA
- AP-2alpha isoform 4
- AP-2alpha isoform 3
- AP-2alpha isoform 2
- AP-2alpha
- ATF-2
- c-Jun
- ATF6
- Max1
- c-Myc
Regulatory Element Products
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:
-
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC
- 19p13.3 by Ensembl
PIP5K1C Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Translation N-terminally shortened.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for PIP5K1C Gene
Protein Expression for PIP5K1C Gene
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 isoforms=2, 3, 4414 and Lys97
- Modification sites at PhosphoSitePlus
Other Protein References for PIP5K1C Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PIP5K1C
- Novus Biologicals Antibodies for PIP5K1C
-
Abcam antibodies for PIP5K1C
- Invitrogen Antibodies for PIP5K1C (AFLGC-PIP5K1C)
- GeneTex PIP5K1C Antibody for PIP5K1C
-
Boster Bio Antibodies for PIP5K1C
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIP5K1C
Protein Products
-
OriGene Purified Proteins for PIP5K1C
- Search Origene for MassSpec and Protein Over-expression Lysates for PIP5K1C
- Origene Custom Protein Services for PIP5K1C
- Search GeneTex for Proteins for PIP5K1C
-
Abcam proteins for PIP5K1C
Assay Products
No data available for DME Specific Peptides for PIP5K1C Gene
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
Suggested Antigen Peptide Sequences for PIP5K1C Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PIP5K1C Gene
Function for PIP5K1C Gene
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:
- 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.
- 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
| 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 | -- |
Phenotypes for PIP5K1C Gene
- MGI mutant phenotypes for PIP5K1C:
-
inferred from 10 alleles
- cardiovascular system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- mortality/aging
- cellular phenotype
- embryo phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PIP5K1C:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased cell proliferation
- Increased viability with TRAIL
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in esophageal squamous lineage
- Decreased Tat-dependent transcription
- Decreased viability
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance
Animal Models for PIP5K1C Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for PIP5K1C
- Cyagen custom Knockout/knockin (KOKI) mouse models for PIP5K1C
-
CRISPR Products
-
OriGene CRISPR knockouts for PIP5K1C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIP5K1C
- genomics-online: gRNA clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
- Applied Biological Materials CRISPR for PIP5K1C
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIP5K1C
- GenScript: Design CRISPR guide RNA sequences for PIP5K1C
miRNA for PIP5K1C Gene
- miRTarBase miRNAs that target PIP5K1C
-
- hsa-mir-101-3p (MIRT027379)
- hsa-mir-32-5p (MIRT028353)
- hsa-mir-26b-5p (MIRT030015)
- hsa-mir-193b-3p (MIRT041364)
- hsa-mir-4325 (MIRT555586)
- hsa-mir-7703 (MIRT555587)
- hsa-mir-6807-5p (MIRT555588)
- hsa-mir-6727-5p (MIRT555589)
- hsa-mir-5705 (MIRT555590)
- hsa-mir-6751-3p (MIRT555591)
- hsa-mir-1199-5p (MIRT555592)
- hsa-mir-4787-5p (MIRT555593)
- hsa-mir-6871-5p (MIRT555594)
- hsa-mir-496 (MIRT555595)
- hsa-mir-92b-3p (MIRT555596)
- hsa-mir-367-3p (MIRT555597)
- hsa-mir-363-3p (MIRT555598)
- hsa-mir-25-3p (MIRT555599)
- hsa-mir-92a-3p (MIRT555600)
- hsa-mir-6875-3p (MIRT723209)
- hsa-mir-670-3p (MIRT723210)
- hsa-mir-6815-3p (MIRT723211)
- hsa-mir-103a-2-5p (MIRT723212)
- hsa-mir-4778-3p (MIRT723213)
- hsa-mir-3664-3p (MIRT723214)
- hsa-mir-5000-3p (MIRT723215)
- hsa-mir-4436a (MIRT723216)
- hsa-mir-1197 (MIRT723217)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIP5K1C
- Browse OriGene Inhibitory RNA Products For PIP5K1C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP5K1C
- genomics-online: shRNA clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for PIP5K1C
- Addgene plasmids for PIP5K1C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIP5K1C
- genomics-online: cdna clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
- orf clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
- Applied Biological Materials Clones for PIP5K1C
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PIP5K1C
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| endosome | 5 |
| cytoskeleton | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for PIP5K1C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
|
| 2 | PI3K/AKT activation |
.89
|
|
| 3 | superpathway of inositol phosphate compounds | ||
| 4 | Metabolism |
.37
|
|
| 5 | Phospholipase D signaling pathway | ||
Pathways by source for PIP5K1C Gene
1 Sino Biological pathway for PIP5K1C Gene
14 BioSystems pathways for PIP5K1C Gene
33 Reactome pathways for PIP5K1C Gene
9 KEGG pathways for PIP5K1C Gene
6 GeneGo (Thomson Reuters) pathways for PIP5K1C Gene
7 Qiagen pathways for PIP5K1C Gene
1 Cell Signaling Technology pathway for PIP5K1C Gene
Interacting Proteins for PIP5K1C Gene
Selected Interacting proteins:
ENSP00000335333
O60331-PI51C_HUMAN
for PIP5K1C Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for PIP5K1C
| 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 | -- |
Drugs & Compounds for PIP5K1C Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1-Phosphatidyl-D-myo-inositol |
|
|
||||
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Drug Products
Transcripts for PIP5K1C Gene
mRNA/cDNA for PIP5K1C Gene
- (11) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (164) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000335312 5080 bps (uc002lyj.3)
- ENST00000539785 2289 bps (uc010xhq.3)
- ENST00000589578 2933 bps (uc010xhr.3)
- ENST00000537021 3326 bps (uc060rrn.1)
- ENST00000592530 456 bps (uc060rro.1)
Unigene Clusters for PIP5K1C Gene
CRISPR Products
-
OriGene CRISPR knockouts for PIP5K1C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIP5K1C
- genomics-online: gRNA clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
- Applied Biological Materials CRISPR for PIP5K1C
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIP5K1C
- GenScript: Design CRISPR guide RNA sequences for PIP5K1C
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIP5K1C
- Browse OriGene Inhibitory RNA Products For PIP5K1C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP5K1C
- genomics-online: shRNA clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for PIP5K1C
- Addgene plasmids for PIP5K1C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIP5K1C
- genomics-online: cdna clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
- orf clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
- Applied Biological Materials Clones for PIP5K1C
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PIP5K1C Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PIP5K1C Gene:
PIP5K1CSOURCE GeneReport for Unigene cluster for PIP5K1C Gene:
Hs.282177mRNA 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
Primer Products
-
OriGene qPCR primer pairs for PIP5K1C
- genomics-online: primer clones - Search results for 117 available PIP5K1C gene related products
- Overview of 117 available PIP5K1C gene related products
-
Recommended
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIP5K1C 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PIP5K1C 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PIP5K1C 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PIP5K1C 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pip5k1c 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pip5k1c 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PIP5K1C 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PIP5K1C 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pip5k1c 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pip5k1cb 34 33 |
|
OneToMany | |
| pip5k1ca 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5845 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | PIP5K59B 34 |
|
ManyToMany | |
| sktl 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | ppk-1 34 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSS4 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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
(7) SIMAP similar genes for PIP5K1C Gene using alignment to 1 proteins:
- PI51C_HUMAN
Pseudogenes.org Pseudogenes for PIP5K1C Gene
Variants for PIP5K1C Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121908315 | pathogenic, Lethal congenital contractural syndrome 3, Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369] | 3,653,454(-) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs1000007821 | -- | 3,702,188(-) | A/G | upstream_transcript_variant | |
| rs1000047559 | -- | 3,677,634(-) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000138733 | -- | 3,679,554(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000158283 | -- | 3,679,081(-) | A/G | genic_upstream_transcript_variant, intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP5K1C Gene
Disorders for PIP5K1C Gene
(7) MalaCards diseases for PIP5K1C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lethal congenital contracture syndrome 3 |
|
|
| lethal congenital contracture syndrome |
|
|
| type i |
|
|
| neurogenic bladder |
|
|
| lethal congenital contracture syndrome 2 |
|
|
Search PIP5K1C in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for PIP5K1C Gene
Publications for PIP5K1C Gene
- 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 58
- 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 58
- 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 58
- 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 58
- Type I gamma phosphatidylinositol phosphate kinase is required for EGF-stimulated directional cell migration. (PMID: 17635937) Sun Y … Anderson RA (The Journal of cell biology 2007) 3 4 58
Products for PIP5K1C Gene
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- Find your next knockout model in the Taconic Knockout Repository
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- antibodies-online: Search results for 43 available PIP5K1C Antibodies ranked by validation data
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- GeneTex PIP5K1C Antibody for PIP5K1C
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- genomics-online: cdna clones - Search results for 117 available PIP5K1C gene related products
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- Overview of 117 available PIP5K1C gene related products
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- Boster Bio Antibodies for PIP5K1C
- Browse Boster Bio ELISA Kits
Sources for PIP5K1C Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt