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PIP5K1A (phosphatidylinositol-4-phosphate 5-kinase type 1 alpha)

Identity

Alias_namesphosphatidylinositol-4-phosphate 5-kinase
Other alias-
HGNC (Hugo) PIP5K1A
LocusID (NCBI) 8394
Atlas_Id 47397
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 151171021 and ends at 151222007 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAMKK2 (12q24.31) / PIP5K1A (1q21.3)NEDD4L (18q21.31) / PIP5K1A (1q21.3)NSF (17q21.31) / PIP5K1A (1q21.3)
PIP5K1A (1q21.3) / C1orf56 (1q21.3)PIP5K1A (1q21.3) / GABPB2 (1q21.3)PIP5K1A (1q21.3) / MLLT11 (1q21.3)
PIP5K1A (1q21.3) / SCNM1 (1q21.3)PIP5K1A (1q21.3) / SLC20A2 (8p11.21)PIP5K1A (1q21.3) / TNFAIP8L2 (1q21.3)
PIP5K1A 1q21.3 / C1orf56 1q21.3PIP5K1A 1q21.3 / MLLT11 1q21.3PIP5K1A 1q21.3 / SLC20A2 8p11.21
PIP5K1A 1q21.3 / TNFAIP8L2 1q21.3

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)PIP5K1A   8994
Cards
Entrez_Gene (NCBI)PIP5K1A  8394  phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
Aliases
GeneCards (Weizmann)PIP5K1A
Ensembl hg19 (Hinxton)ENSG00000143398 [Gene_View]  chr1:151171021-151222007 [Contig_View]  PIP5K1A [Vega]
Ensembl hg38 (Hinxton)ENSG00000143398 [Gene_View]  chr1:151171021-151222007 [Contig_View]  PIP5K1A [Vega]
ICGC DataPortalENSG00000143398
TCGA cBioPortalPIP5K1A
AceView (NCBI)PIP5K1A
Genatlas (Paris)PIP5K1A
WikiGenes8394
SOURCE (Princeton)PIP5K1A
Genetics Home Reference (NIH)PIP5K1A
Genomic and cartography
GoldenPath hg19 (UCSC)PIP5K1A  -     chr1:151171021-151222007 +  1q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PIP5K1A  -     1q21.3   [Description]    (hg38-Dec_2013)
EnsemblPIP5K1A - 1q21.3 [CytoView hg19]  PIP5K1A - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIPIP5K1A [Mapview hg19]  PIP5K1A [Mapview hg38]
OMIM603275   
Gene and transcription
Genbank (Entrez)AF085856 AK291015 AK295691 AK302268 AK309826
RefSeq transcript (Entrez)NM_001135636 NM_001135637 NM_001135638 NM_003557
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)PIP5K1A
Cluster EST : UnigeneHs.661888 [ NCBI ]
CGAP (NCI)Hs.661888
Alternative Splicing GalleryENSG00000143398
Gene ExpressionPIP5K1A [ NCBI-GEO ]   PIP5K1A [ EBI - ARRAY_EXPRESS ]   PIP5K1A [ SEEK ]   PIP5K1A [ MEM ]
Gene Expression Viewer (FireBrowse)PIP5K1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8394
GTEX Portal (Tissue expression)PIP5K1A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99755   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99755  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99755
Splice isoforms : SwissVarQ99755
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 ]   
PhosPhoSitePlusQ99755
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    PInositol-4P-5-kinase_core_sub   
Domain families : Pfam (Sanger)PIP5K (PF01504)   
Domain families : Pfam (NCBI)pfam01504   
Domain families : Smart (EMBL)PIPKc (SM00330)  
Conserved Domain (NCBI)PIP5K1A
DMDM Disease mutations8394
Blocks (Seattle)PIP5K1A
SuperfamilyQ99755
Human Protein AtlasENSG00000143398
Peptide AtlasQ99755
IPIIPI00022150   IPI00022149   IPI00163602   IPI00909663   IPI00793493   IPI00853104   IPI00908438   IPI00852961   IPI00922583   IPI00974496   
Protein Interaction databases
DIP (DOE-UCLA)Q99755
IntAct (EBI)Q99755
FunCoupENSG00000143398
BioGRIDPIP5K1A
STRING (EMBL)PIP5K1A
ZODIACPIP5K1A
Ontologies - Pathways
QuickGOQ99755
Ontology : AmiGO1-phosphatidylinositol-3-phosphate 5-kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  cytoplasm  cytosol  mRNA cleavage and polyadenylation specificity factor complex  plasma membrane  focal adhesion  glycerophospholipid metabolic process  phosphatidylinositol biosynthetic process  phagocytosis  signal transduction  phospholipid biosynthetic process  fibroblast migration  regulation of phosphatidylinositol 3-kinase signaling  1-phosphatidylinositol-4-phosphate 5-kinase activity  1-phosphatidylinositol-4-phosphate 5-kinase activity  cell migration  nuclear speck  nuclear speck  kinase binding  lamellipodium  keratinocyte differentiation  actin cytoskeleton reorganization  ruffle membrane  phosphatidylinositol phosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol phosphorylation  focal adhesion assembly  1-phosphatidylinositol-5-kinase activity  1-phosphatidylinositol-3-phosphate 4-kinase activity  phosphatidylinositol-3,4-bisphosphate 5-kinase activity  cell chemotaxis  protein targeting to plasma membrane  activation of GTPase activity  ruffle assembly  
Ontology : EGO-EBI1-phosphatidylinositol-3-phosphate 5-kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  cytoplasm  cytosol  mRNA cleavage and polyadenylation specificity factor complex  plasma membrane  focal adhesion  glycerophospholipid metabolic process  phosphatidylinositol biosynthetic process  phagocytosis  signal transduction  phospholipid biosynthetic process  fibroblast migration  regulation of phosphatidylinositol 3-kinase signaling  1-phosphatidylinositol-4-phosphate 5-kinase activity  1-phosphatidylinositol-4-phosphate 5-kinase activity  cell migration  nuclear speck  nuclear speck  kinase binding  lamellipodium  keratinocyte differentiation  actin cytoskeleton reorganization  ruffle membrane  phosphatidylinositol phosphorylation  phosphatidylinositol phosphorylation  phosphatidylinositol phosphorylation  focal adhesion assembly  1-phosphatidylinositol-5-kinase activity  1-phosphatidylinositol-3-phosphate 4-kinase activity  phosphatidylinositol-3,4-bisphosphate 5-kinase activity  cell chemotaxis  protein targeting to plasma membrane  activation of GTPase activity  ruffle assembly  
Pathways : BIOCARTARho cell motility signaling pathway [Genes]   
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system    Endocytosis    Fc gamma R-mediated phagocytosis    Regulation of actin cytoskeleton   
NDEx NetworkPIP5K1A
Atlas of Cancer Signalling NetworkPIP5K1A
Wikipedia pathwaysPIP5K1A
Orthology - Evolution
OrthoDB8394
GeneTree (enSembl)ENSG00000143398
Phylogenetic Trees/Animal Genes : TreeFamPIP5K1A
HOVERGENQ99755
HOGENOMQ99755
Homologs : HomoloGenePIP5K1A
Homology/Alignments : Family Browser (UCSC)PIP5K1A
Gene fusions - Rearrangements
Fusion : MitelmanPIP5K1A/C1orf56 [1q21.3/1q21.3]  
Fusion : MitelmanPIP5K1A/MLLT11 [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Fusion : MitelmanPIP5K1A/SLC20A2 [1q21.3/8p11.21]  [t(1;8)(q21;p11)]  
Fusion : MitelmanPIP5K1A/TNFAIP8L2 [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Fusion: TCGAPIP5K1A 1q21.3 C1orf56 1q21.3 LUAD
Fusion: TCGAPIP5K1A 1q21.3 MLLT11 1q21.3 BRCA
Fusion: TCGAPIP5K1A 1q21.3 SLC20A2 8p11.21 LUSC
Fusion: TCGAPIP5K1A 1q21.3 TNFAIP8L2 1q21.3 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPIP5K1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PIP5K1A
dbVarPIP5K1A
ClinVarPIP5K1A
1000_GenomesPIP5K1A 
Exome Variant ServerPIP5K1A
ExAC (Exome Aggregation Consortium)PIP5K1A (select the gene name)
Genetic variants : HAPMAP8394
Genomic Variants (DGV)PIP5K1A [DGVbeta]
DECIPHER (Syndromes)1:151171021-151222007  ENSG00000143398
CONAN: Copy Number AnalysisPIP5K1A 
Mutations
ICGC Data PortalPIP5K1A 
TCGA Data PortalPIP5K1A 
Broad Tumor PortalPIP5K1A
OASIS PortalPIP5K1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPIP5K1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPIP5K1A
intOGen PortalPIP5K1A
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 PIP5K1A
DgiDB (Drug Gene Interaction Database)PIP5K1A
DoCM (Curated mutations)PIP5K1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PIP5K1A (select a term)
intoGenPIP5K1A
Cancer3DPIP5K1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603275   
Orphanet
MedgenPIP5K1A
Genetic Testing Registry PIP5K1A
NextProtQ99755 [Medical]
TSGene8394
GENETestsPIP5K1A
Huge Navigator PIP5K1A [HugePedia]
snp3D : Map Gene to Disease8394
BioCentury BCIQPIP5K1A
ClinGenPIP5K1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8394
Chemical/Pharm GKB GenePA33327
Clinical trialPIP5K1A
Miscellaneous
canSAR (ICR)PIP5K1A (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePIP5K1A
EVEXPIP5K1A
GoPubMedPIP5K1A
iHOPPIP5K1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:29 CET 2017

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