Atlas of Genetics and Cytogenetics in Oncology and Haematology


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INPP5K (inositol polyphosphate-5-phosphatase K)

Identity

Alias_symbol (synonym)SKIP
Other aliasMDCCAID
PPS
HGNC (Hugo) INPP5K
LocusID (NCBI) 51763
Atlas_Id 52480
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1494577 and ends at 1516888 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
INPP5K (17p13.3) / FBXO34 (14q22.3)

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)INPP5K   33882
Cards
Entrez_Gene (NCBI)INPP5K  51763  inositol polyphosphate-5-phosphatase K
AliasesMDCCAID; PPS; SKIP
GeneCards (Weizmann)INPP5K
Ensembl hg19 (Hinxton)ENSG00000132376 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132376 [Gene_View]  chr17:1494577-1516888 [Contig_View]  INPP5K [Vega]
ICGC DataPortalENSG00000132376
TCGA cBioPortalINPP5K
AceView (NCBI)INPP5K
Genatlas (Paris)INPP5K
WikiGenes51763
SOURCE (Princeton)INPP5K
Genetics Home Reference (NIH)INPP5K
Genomic and cartography
GoldenPath hg38 (UCSC)INPP5K  -     chr17:1494577-1516888 -  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)INPP5K  -     17p13.3   [Description]    (hg19-Feb_2009)
EnsemblINPP5K - 17p13.3 [CytoView hg19]  INPP5K - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIINPP5K [Mapview hg19]  INPP5K [Mapview hg38]
OMIM607875   617404   
Gene and transcription
Genbank (Entrez)AB036829 AB036830 AK297955 AK303907 AK307293
RefSeq transcript (Entrez)NM_001135642 NM_016532 NM_130766
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)INPP5K
Cluster EST : UnigeneHs.632238 [ NCBI ]
CGAP (NCI)Hs.632238
Alternative Splicing GalleryENSG00000132376
Gene ExpressionINPP5K [ NCBI-GEO ]   INPP5K [ EBI - ARRAY_EXPRESS ]   INPP5K [ SEEK ]   INPP5K [ MEM ]
Gene Expression Viewer (FireBrowse)INPP5K [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51763
GTEX Portal (Tissue expression)INPP5K
Human Protein AtlasENSG00000132376-INPP5K [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BT40   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BT40  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BT40
Splice isoforms : SwissVarQ9BT40
Catalytic activity : Enzyme3.1.3.56 [ Enzyme-Expasy ]   3.1.3.563.1.3.56 [ IntEnz-EBI ]   3.1.3.56 [ BRENDA ]   3.1.3.56 [ KEGG ]   
PhosPhoSitePlusQ9BT40
Domains : Interpro (EBI)Endo/exonuclease/phosphatase    IPPc   
Domain families : Pfam (Sanger)Exo_endo_phos (PF03372)   
Domain families : Pfam (NCBI)pfam03372   
Domain families : Smart (EMBL)IPPc (SM00128)  
Conserved Domain (NCBI)INPP5K
DMDM Disease mutations51763
Blocks (Seattle)INPP5K
SuperfamilyQ9BT40
Human Protein Atlas [tissue]ENSG00000132376-INPP5K [tissue]
Peptide AtlasQ9BT40
HPRD08489
IPIIPI00374574   IPI00374575   IPI00879440   IPI00921834   IPI00879286   
Protein Interaction databases
DIP (DOE-UCLA)Q9BT40
IntAct (EBI)Q9BT40
FunCoupENSG00000132376
BioGRIDINPP5K
STRING (EMBL)INPP5K
ZODIACINPP5K
Ontologies - Pathways
QuickGOQ9BT40
Ontology : AmiGOin utero embryonic development  ruffle  negative regulation of protein phosphorylation  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  vasopressin receptor activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  trans-Golgi network  cytosol  cytosol  plasma membrane  regulation of glycogen biosynthetic process  negative regulation of protein kinase activity  phosphatidylinositol biosynthetic process  G-protein coupled receptor signaling pathway  negative regulation of peptidyl-threonine phosphorylation  negative regulation of glucose transport  membrane  dephosphorylation  dephosphorylation  inositol bisphosphate phosphatase activity  actin cytoskeleton organization  ruffle membrane  cellular response to insulin stimulus  cellular response to hormone stimulus  negative regulation of peptidyl-serine phosphorylation  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity  phosphatidylinositol trisphosphate phosphatase activity  phosphatidylinositol phosphate 5-phosphatase activity  negative regulation of dephosphorylation  positive regulation of urine volume  lipid phosphatase activity  glucose homeostasis  neuron projection  negative regulation of MAP kinase activity  negative regulation by host of viral transcription  negative regulation of glycogen biosynthetic process  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  inositol trisphosphate phosphatase activity  negative regulation of insulin receptor signaling pathway  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  perinuclear region of cytoplasm  negative regulation of stress fiber assembly  negative regulation of protein kinase B signaling  negative regulation of calcium ion transport  inositol-1,4,5-trisphosphate 5-phosphatase activity  inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity  cellular response to cAMP  cellular response to tumor necrosis factor  cellular response to epidermal growth factor stimulus  protein targeting to plasma membrane  negative regulation of protein targeting to membrane  ruffle assembly  negative regulation of glycogen (starch) synthase activity  positive regulation of renal water transport  
Ontology : EGO-EBIin utero embryonic development  ruffle  negative regulation of protein phosphorylation  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  vasopressin receptor activity  protein binding  nucleus  cytoplasm  endoplasmic reticulum  trans-Golgi network  cytosol  cytosol  plasma membrane  regulation of glycogen biosynthetic process  negative regulation of protein kinase activity  phosphatidylinositol biosynthetic process  G-protein coupled receptor signaling pathway  negative regulation of peptidyl-threonine phosphorylation  negative regulation of glucose transport  membrane  dephosphorylation  dephosphorylation  inositol bisphosphate phosphatase activity  actin cytoskeleton organization  ruffle membrane  cellular response to insulin stimulus  cellular response to hormone stimulus  negative regulation of peptidyl-serine phosphorylation  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity  phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity  phosphatidylinositol trisphosphate phosphatase activity  phosphatidylinositol phosphate 5-phosphatase activity  negative regulation of dephosphorylation  positive regulation of urine volume  lipid phosphatase activity  glucose homeostasis  neuron projection  negative regulation of MAP kinase activity  negative regulation by host of viral transcription  negative regulation of glycogen biosynthetic process  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  inositol trisphosphate phosphatase activity  negative regulation of insulin receptor signaling pathway  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  perinuclear region of cytoplasm  negative regulation of stress fiber assembly  negative regulation of protein kinase B signaling  negative regulation of calcium ion transport  inositol-1,4,5-trisphosphate 5-phosphatase activity  inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity  cellular response to cAMP  cellular response to tumor necrosis factor  cellular response to epidermal growth factor stimulus  protein targeting to plasma membrane  negative regulation of protein targeting to membrane  ruffle assembly  negative regulation of glycogen (starch) synthase activity  positive regulation of renal water transport  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system    Insulin signaling pathway   
NDEx NetworkINPP5K
Atlas of Cancer Signalling NetworkINPP5K
Wikipedia pathwaysINPP5K
Orthology - Evolution
OrthoDB51763
GeneTree (enSembl)ENSG00000132376
Phylogenetic Trees/Animal Genes : TreeFamINPP5K
HOVERGENQ9BT40
HOGENOMQ9BT40
Homologs : HomoloGeneINPP5K
Homology/Alignments : Family Browser (UCSC)INPP5K
Gene fusions - Rearrangements
Tumor Fusion PortalINPP5K
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerINPP5K [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)INPP5K
dbVarINPP5K
ClinVarINPP5K
1000_GenomesINPP5K 
Exome Variant ServerINPP5K
ExAC (Exome Aggregation Consortium)ENSG00000132376
GNOMAD BrowserENSG00000132376
Genetic variants : HAPMAP51763
Genomic Variants (DGV)INPP5K [DGVbeta]
DECIPHERINPP5K [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisINPP5K 
Mutations
ICGC Data PortalINPP5K 
TCGA Data PortalINPP5K 
Broad Tumor PortalINPP5K
OASIS PortalINPP5K [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICINPP5K  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDINPP5K
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch INPP5K
DgiDB (Drug Gene Interaction Database)INPP5K
DoCM (Curated mutations)INPP5K (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)INPP5K (select a term)
intoGenINPP5K
Cancer3DINPP5K(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607875    617404   
Orphanet
DisGeNETINPP5K
MedgenINPP5K
Genetic Testing Registry INPP5K
NextProtQ9BT40 [Medical]
TSGene51763
GENETestsINPP5K
Target ValidationINPP5K
Huge Navigator INPP5K [HugePedia]
snp3D : Map Gene to Disease51763
BioCentury BCIQINPP5K
ClinGenINPP5K
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51763
Chemical/Pharm GKB GenePA164720951
Clinical trialINPP5K
Miscellaneous
canSAR (ICR)INPP5K (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineINPP5K
EVEXINPP5K
GoPubMedINPP5K
iHOPINPP5K
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:17:55 CET 2017

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