Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma)

Identity

Alias_namesphosphatidylinositol-4-phosphate 5-kinase
Alias_symbol (synonym)PIP5Kgamma
KIAA0589
LCCS3
Other aliasPIP5K-GAMMA
PIP5K1-gamma
HGNC (Hugo) PIP5K1C
LocusID (NCBI) 23396
Atlas_Id 47224
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 3630181 and ends at 3700479 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCL9L (11q23.3) / PIP5K1C (19p13.3)FKBP3 (14q21.2) / PIP5K1C (19p13.3)PIP5K1C (19p13.3) / AKAP13 (15q25.3)
PIP5K1C (19p13.3) / C3 (19p13.3)PIP5K1C (19p13.3) / MATK (19p13.3)PIP5K1C (19p13.3) / NFIC (19p13.3)
PIP5K1C (19p13.3) / PALM (19p13.3)RANBP3 (19p13.3) / PIP5K1C (19p13.3)SNX9 (6q25.3) / PIP5K1C (19p13.3)
PIP5K1C 19p13.3 / C3 19p13.3PIP5K1C 19p13.3 / MATK 19p13.3PIP5K1C 19p13.3 / PALM 19p13.3
RANBP3 19p13.3 / PIP5K1C 19p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PIP5K1C   8996
Cards
Entrez_Gene (NCBI)PIP5K1C  23396  phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
AliasesLCCS3; PIP5K-GAMMA; PIP5K1-gamma; PIP5Kgamma
GeneCards (Weizmann)PIP5K1C
Ensembl hg19 (Hinxton)ENSG00000186111 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186111 [Gene_View]  chr19:3630181-3700479 [Contig_View]  PIP5K1C [Vega]
ICGC DataPortalENSG00000186111
TCGA cBioPortalPIP5K1C
AceView (NCBI)PIP5K1C
Genatlas (Paris)PIP5K1C
WikiGenes23396
SOURCE (Princeton)PIP5K1C
Genetics Home Reference (NIH)PIP5K1C
Genomic and cartography
GoldenPath hg38 (UCSC)PIP5K1C  -     chr19:3630181-3700479 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PIP5K1C  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblPIP5K1C - 19p13.3 [CytoView hg19]  PIP5K1C - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIPIP5K1C [Mapview hg19]  PIP5K1C [Mapview hg38]
OMIM606102   611369   
Gene and transcription
Genbank (Entrez)AB011161 AK301309 AK315912 BC004149 BC011138
RefSeq transcript (Entrez)NM_001195733 NM_001300849 NM_012398
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PIP5K1C
Cluster EST : UnigeneHs.282177 [ NCBI ]
CGAP (NCI)Hs.282177
Alternative Splicing GalleryENSG00000186111
Gene ExpressionPIP5K1C [ NCBI-GEO ]   PIP5K1C [ EBI - ARRAY_EXPRESS ]   PIP5K1C [ SEEK ]   PIP5K1C [ MEM ]
Gene Expression Viewer (FireBrowse)PIP5K1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23396
GTEX Portal (Tissue expression)PIP5K1C
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60331   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60331  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60331
Splice isoforms : SwissVarO60331
Catalytic activity : Enzyme2.7.1.68 [ Enzyme-Expasy ]   2.7.1.682.7.1.68 [ IntEnz-EBI ]   2.7.1.68 [ BRENDA ]   2.7.1.68 [ KEGG ]   
PhosPhoSitePlusO60331
Domaine pattern : Prosite (Expaxy)PIPK (PS51455)   
Domains : Interpro (EBI)PInositol-4-P-5-kinase    PInositol-4-P-5-kinase_C    PInositol-4-P-5-kinase_core    PInositol-4-P-5-kinase_N   
Domain families : Pfam (Sanger)PIP5K (PF01504)   
Domain families : Pfam (NCBI)pfam01504   
Domain families : Smart (EMBL)PIPKc (SM00330)  
Conserved Domain (NCBI)PIP5K1C
DMDM Disease mutations23396
Blocks (Seattle)PIP5K1C
PDB (SRS)2G35    3H1Z    3H85   
PDB (PDBSum)2G35    3H1Z    3H85   
PDB (IMB)2G35    3H1Z    3H85   
PDB (RSDB)2G35    3H1Z    3H85   
Structural Biology KnowledgeBase2G35    3H1Z    3H85   
SCOP (Structural Classification of Proteins)2G35    3H1Z    3H85   
CATH (Classification of proteins structures)2G35    3H1Z    3H85   
SuperfamilyO60331
Human Protein AtlasENSG00000186111
Peptide AtlasO60331
HPRD05834
IPIIPI01009827   IPI00029009   IPI00943568   IPI00979316   
Protein Interaction databases
DIP (DOE-UCLA)O60331
IntAct (EBI)O60331
FunCoupENSG00000186111
BioGRIDPIP5K1C
STRING (EMBL)PIP5K1C
ZODIACPIP5K1C
Ontologies - Pathways
QuickGOO60331
Ontology : AmiGOphagocytic cup  uropod  protein binding  ATP binding  nucleoplasm  cytosol  cytosol  focal adhesion  phosphatidylinositol biosynthetic process  phagocytosis  endomembrane system  regulation of phosphatidylinositol 3-kinase signaling  synaptic vesicle exocytosis  1-phosphatidylinositol-4-phosphate 5-kinase activity  single organismal cell-cell adhesion  actin cytoskeleton organization  neutrophil chemotaxis  ruffle membrane  adherens junction assembly  phosphatidylinositol phosphorylation  synaptic vesicle endocytosis  1-phosphatidylinositol-3-phosphate 4-kinase activity  phosphatidylinositol-3,4-bisphosphate 5-kinase activity  membrane organization  clathrin-dependent endocytosis  presynapse  
Ontology : EGO-EBIphagocytic cup  uropod  protein binding  ATP binding  nucleoplasm  cytosol  cytosol  focal adhesion  phosphatidylinositol biosynthetic process  phagocytosis  endomembrane system  regulation of phosphatidylinositol 3-kinase signaling  synaptic vesicle exocytosis  1-phosphatidylinositol-4-phosphate 5-kinase activity  single organismal cell-cell adhesion  actin cytoskeleton organization  neutrophil chemotaxis  ruffle membrane  adherens junction assembly  phosphatidylinositol phosphorylation  synaptic vesicle endocytosis  1-phosphatidylinositol-3-phosphate 4-kinase activity  phosphatidylinositol-3,4-bisphosphate 5-kinase activity  membrane organization  clathrin-dependent endocytosis  presynapse  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system    Endocytosis    Focal adhesion    Fc gamma R-mediated phagocytosis    Regulation of actin cytoskeleton   
NDEx NetworkPIP5K1C
Atlas of Cancer Signalling NetworkPIP5K1C
Wikipedia pathwaysPIP5K1C
Orthology - Evolution
OrthoDB23396
GeneTree (enSembl)ENSG00000186111
Phylogenetic Trees/Animal Genes : TreeFamPIP5K1C
HOVERGENO60331
HOGENOMO60331
Homologs : HomoloGenePIP5K1C
Homology/Alignments : Family Browser (UCSC)PIP5K1C
Gene fusions - Rearrangements
Fusion : MitelmanPIP5K1C/C3 [19p13.3/19p13.3]  
Fusion : MitelmanPIP5K1C/MATK [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanPIP5K1C/PALM [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanRANBP3/PIP5K1C [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion: TCGAPIP5K1C 19p13.3 C3 19p13.3 BRCA
Fusion: TCGAPIP5K1C 19p13.3 MATK 19p13.3 HNSC
Fusion: TCGAPIP5K1C 19p13.3 PALM 19p13.3 BRCA
Fusion: TCGARANBP3 19p13.3 PIP5K1C 19p13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIP5K1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIP5K1C
dbVarPIP5K1C
ClinVarPIP5K1C
1000_GenomesPIP5K1C 
Exome Variant ServerPIP5K1C
ExAC (Exome Aggregation Consortium)PIP5K1C (select the gene name)
Genetic variants : HAPMAP23396
Genomic Variants (DGV)PIP5K1C [DGVbeta]
DECIPHERPIP5K1C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPIP5K1C 
Mutations
ICGC Data PortalPIP5K1C 
TCGA Data PortalPIP5K1C 
Broad Tumor PortalPIP5K1C
OASIS PortalPIP5K1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIP5K1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIP5K1C
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PIP5K1C
DgiDB (Drug Gene Interaction Database)PIP5K1C
DoCM (Curated mutations)PIP5K1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIP5K1C (select a term)
intoGenPIP5K1C
Cancer3DPIP5K1C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606102    611369   
Orphanet16716   
MedgenPIP5K1C
Genetic Testing Registry PIP5K1C
NextProtO60331 [Medical]
TSGene23396
GENETestsPIP5K1C
Target ValidationPIP5K1C
Huge Navigator PIP5K1C [HugePedia]
snp3D : Map Gene to Disease23396
BioCentury BCIQPIP5K1C
ClinGenPIP5K1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23396
Chemical/Pharm GKB GenePA33329
Clinical trialPIP5K1C
Miscellaneous
canSAR (ICR)PIP5K1C (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIP5K1C
EVEXPIP5K1C
GoPubMedPIP5K1C
iHOPPIP5K1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:24:54 CEST 2017

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