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ITPK1 (inositol-tetrakisphosphate 1-kinase)

Identity

Alias_namesinositol 1,3,4-triphosphate 5/6 kinase
Other aliasITRPK1
HGNC (Hugo) ITPK1
LocusID (NCBI) 3705
Atlas_Id 64694
Location 14q32.12  [Link to chromosome band 14q32]
Location_base_pair Starts at 92939723 and ends at 93115919 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)
CIRBP-AS1 (19p13.3) / ITPK1 (14q32.12)ITPK1 (14q32.12) / ACO1 (9p21.1)ITPK1 (14q32.12) / ADH5 (4q23)
ITPK1 (14q32.12) / BTBD7 (14q32.12)ITPK1 (14q32.12) / CEP170B (14q32.33)ITPK1 (14q32.12) / EHBP1L1 (11q13.1)
ITPK1 (14q32.12) / ISM2 (14q24.3)ITPK1 (14q32.12) / KLHL29 (2p24.1)SYNE2 (14q23.2) / ITPK1 (14q32.12)
ITPK1 ACO1ITPK1 BTBD7ITPK1 KIAA0284

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(9;14)(p21;q32) ITPK1/ACO1
t(14;14)(q23;q32) SYNE2/ITPK1
t(14;14)(q32;q32) ITPK1/BTBD7
t(14;14)(q32;q32) ITPK1/CEP170B

External links

Nomenclature
HGNC (Hugo)ITPK1   6177
Cards
Entrez_Gene (NCBI)ITPK1  3705  inositol-tetrakisphosphate 1-kinase
AliasesITRPK1
GeneCards (Weizmann)ITPK1
Ensembl hg19 (Hinxton)ENSG00000100605 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100605 [Gene_View]  chr14:92939723-93115919 [Contig_View]  ITPK1 [Vega]
ICGC DataPortalENSG00000100605
TCGA cBioPortalITPK1
AceView (NCBI)ITPK1
Genatlas (Paris)ITPK1
WikiGenes3705
SOURCE (Princeton)ITPK1
Genetics Home Reference (NIH)ITPK1
Genomic and cartography
GoldenPath hg38 (UCSC)ITPK1  -     chr14:92939723-93115919 -  14q32.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITPK1  -     14q32.12   [Description]    (hg19-Feb_2009)
EnsemblITPK1 - 14q32.12 [CytoView hg19]  ITPK1 - 14q32.12 [CytoView hg38]
Mapping of homologs : NCBIITPK1 [Mapview hg19]  ITPK1 [Mapview hg38]
OMIM601838   
Gene and transcription
Genbank (Entrez)AA770154 AF279372 AK293515 AY129028 BC003622
RefSeq transcript (Entrez)NM_001142593 NM_001142594 NM_014216
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_051071 NT_187601
Consensus coding sequences : CCDS (NCBI)ITPK1
Cluster EST : UnigeneHs.308122 [ NCBI ]
CGAP (NCI)Hs.308122
Alternative Splicing GalleryENSG00000100605
Gene ExpressionITPK1 [ NCBI-GEO ]   ITPK1 [ EBI - ARRAY_EXPRESS ]   ITPK1 [ SEEK ]   ITPK1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3705
GTEX Portal (Tissue expression)ITPK1
Human Protein AtlasENSG00000100605-ITPK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13572   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13572  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13572
Splice isoforms : SwissVarQ13572
Catalytic activity : Enzyme2.7.1.134 [ Enzyme-Expasy ]   2.7.1.1342.7.1.134 [ IntEnz-EBI ]   2.7.1.134 [ BRENDA ]   2.7.1.134 [ KEGG ]   
PhosPhoSitePlusQ13572
Domaine pattern : Prosite (Expaxy)ATP_GRASP (PS50975)   
Domains : Interpro (EBI)ATP-grasp    Inositol_tetrakis-P_1-kinase   
Domain families : Pfam (Sanger)Ins134_P3_kin (PF05770)   
Domain families : Pfam (NCBI)pfam05770   
Conserved Domain (NCBI)ITPK1
DMDM Disease mutations3705
Blocks (Seattle)ITPK1
PDB (SRS)2ODT    2Q7D    2QB5   
PDB (PDBSum)2ODT    2Q7D    2QB5   
PDB (IMB)2ODT    2Q7D    2QB5   
PDB (RSDB)2ODT    2Q7D    2QB5   
Structural Biology KnowledgeBase2ODT    2Q7D    2QB5   
SCOP (Structural Classification of Proteins)2ODT    2Q7D    2QB5   
CATH (Classification of proteins structures)2ODT    2Q7D    2QB5   
SuperfamilyQ13572
Human Protein Atlas [tissue]ENSG00000100605-ITPK1 [tissue]
Peptide AtlasQ13572
HPRD03501
IPIIPI00100329   IPI00953716   IPI00165371   IPI00296589   IPI01026041   IPI01025710   IPI01025837   IPI01025489   IPI01025373   IPI00977107   
Protein Interaction databases
DIP (DOE-UCLA)Q13572
IntAct (EBI)Q13572
FunCoupENSG00000100605
BioGRIDITPK1
STRING (EMBL)ITPK1
ZODIACITPK1
Ontologies - Pathways
QuickGOQ13572
Ontology : AmiGO###############################################################################################################################################################################################################################################################  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################  
NDEx NetworkITPK1
Atlas of Cancer Signalling NetworkITPK1
Wikipedia pathwaysITPK1
Orthology - Evolution
OrthoDB3705
GeneTree (enSembl)ENSG00000100605
Phylogenetic Trees/Animal Genes : TreeFamITPK1
HOVERGENQ13572
HOGENOMQ13572
Homologs : HomoloGeneITPK1
Homology/Alignments : Family Browser (UCSC)ITPK1
Gene fusions - Rearrangements
Fusion: TCGA_MDACCITPK1 ACO1
Fusion: TCGA_MDACCITPK1 BTBD7
Fusion: TCGA_MDACCITPK1 KIAA0284
Fusion PortalITPK1 ACO1
Fusion PortalITPK1 BTBD7
Fusion PortalITPK1 KIAA0284
Fusion : QuiverITPK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPK1
dbVarITPK1
ClinVarITPK1
1000_GenomesITPK1 
Exome Variant ServerITPK1
ExAC (Exome Aggregation Consortium)ENSG00000100605
GNOMAD BrowserENSG00000100605
Genetic variants : HAPMAP3705
Genomic Variants (DGV)ITPK1 [DGVbeta]
DECIPHERITPK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITPK1 
Mutations
ICGC Data PortalITPK1 
TCGA Data PortalITPK1 
Broad Tumor PortalITPK1
OASIS PortalITPK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITPK1
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 ITPK1
DgiDB (Drug Gene Interaction Database)ITPK1
DoCM (Curated mutations)ITPK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPK1 (select a term)
intoGenITPK1
Cancer3DITPK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601838   
Orphanet
DisGeNETITPK1
MedgenITPK1
Genetic Testing Registry ITPK1
NextProtQ13572 [Medical]
TSGene3705
GENETestsITPK1
Target ValidationITPK1
Huge Navigator ITPK1 [HugePedia]
snp3D : Map Gene to Disease3705
BioCentury BCIQITPK1
ClinGenITPK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3705
Chemical/Pharm GKB GenePA29974
Clinical trialITPK1
Miscellaneous
canSAR (ICR)ITPK1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPK1
EVEXITPK1
GoPubMedITPK1
iHOPITPK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:22:18 CET 2018
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