Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23396
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIP5K1C
Synonyms (NCBI Gene) Gene synonyms aliases
LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908315 C>T Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027379 hsa-miR-101-3p Sequencing 20371350
MIRT028353 hsa-miR-32-5p Sequencing 20371350
MIRT030015 hsa-miR-26b-5p Microarray 19088304
MIRT041364 hsa-miR-193b-3p CLASH 23622248
MIRT723217 hsa-miR-1197 HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
EZH2 Repression 21216957
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001891 Component Phagocytic cup IEA
GO:0001931 Component Uropod IEA
GO:0001931 Component Uropod TAS 19889969
GO:0005515 Function Protein binding IPI 23982733, 25588945, 35044719
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606102 8996 ENSG00000186111
Protein
UniProt ID O60331
Protein name Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1gamma) (PtdIns(4)P-5-kinase 1 gamma) (EC 2.7.1.68) (Type I phosphatidylinositol 4-phosphate 5-kinase gamma)
Protein function Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transductio
PDB 2G35 , 3H1Z , 3H85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01504 PIP5K 160 442 Phosphatidylinositol-4-phosphate 5-Kinase Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Isoform 1 is strongly expressed in brain and also detected in heart and lung. {ECO:0000269|PubMed:19548880}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities
Sequence
MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGH
RGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGS
NLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVT
SDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNN
ILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVK
TLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMES
IQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDG
DTVSVHRPSFYAERFFKFMSNT
VFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQI
PSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSP
SETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEAS
PAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPP
ASDGESDT
Sequence length 668
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Endocytosis
Focal adhesion
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Yersinia infection
Choline metabolism in cancer
  Synthesis of PIPs at the plasma membrane
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Clathrin-mediated endocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lethal Congenital Contracture Syndrome Lethal congenital contracture syndrome 3 rs121908315 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder, neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 37010714
Adenocarcinoma of Lung Associate 26840709
Alzheimer Disease Associate 37010714
Arthrogryposis Associate 17701898
Carcinogenesis Associate 37010714
Lethal Congenital Contractural Syndrome 3 Associate 17701898
Lethal Congenital Contracture Syndrome 2 Associate 17701898
Leukemia Myeloid Acute Associate 36175877
Neoplasm Metastasis Associate 30040488, 37010714
Neoplasms Associate 36803256