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KHK (ketohexokinase)

Identity

Alias_namesketohexokinase (fructokinase)
Other alias-
HGNC (Hugo) KHK
LocusID (NCBI) 3795
Atlas_Id 46273
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27086743 and ends at 27100751 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ITGA3 (17q21.33) / KHK (2p23.3)

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)KHK   6315
Cards
Entrez_Gene (NCBI)KHK  3795  ketohexokinase
Aliases
GeneCards (Weizmann)KHK
Ensembl hg19 (Hinxton)ENSG00000138030 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138030 [Gene_View]  chr2:27086743-27100751 [Contig_View]  KHK [Vega]
ICGC DataPortalENSG00000138030
TCGA cBioPortalKHK
AceView (NCBI)KHK
Genatlas (Paris)KHK
WikiGenes3795
SOURCE (Princeton)KHK
Genetics Home Reference (NIH)KHK
Genomic and cartography
GoldenPath hg38 (UCSC)KHK  -     chr2:27086743-27100751 +  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHK  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblKHK - 2p23.3 [CytoView hg19]  KHK - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIKHK [Mapview hg19]  KHK [Mapview hg38]
OMIM229800   614058   
Gene and transcription
Genbank (Entrez)AB209518 AK130033 AK223075 AM393286 BC006233
RefSeq transcript (Entrez)NM_000221 NM_006488
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHK
Cluster EST : UnigeneHs.567297 [ NCBI ]
CGAP (NCI)Hs.567297
Alternative Splicing GalleryENSG00000138030
Gene ExpressionKHK [ NCBI-GEO ]   KHK [ EBI - ARRAY_EXPRESS ]   KHK [ SEEK ]   KHK [ MEM ]
Gene Expression Viewer (FireBrowse)KHK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3795
GTEX Portal (Tissue expression)KHK
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50053   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50053  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50053
Splice isoforms : SwissVarP50053
PhosPhoSitePlusP50053
Domains : Interpro (EBI)KHK    PfkB_dom    Ribokinase-like   
Domain families : Pfam (Sanger)PfkB (PF00294)   
Domain families : Pfam (NCBI)pfam00294   
Conserved Domain (NCBI)KHK
DMDM Disease mutations3795
Blocks (Seattle)KHK
PDB (SRS)2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
PDB (PDBSum)2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
PDB (IMB)2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
PDB (RSDB)2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
Structural Biology KnowledgeBase2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
SCOP (Structural Classification of Proteins)2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
CATH (Classification of proteins structures)2HLZ    2HQQ    2HW1    3B3L    3NBV    3NBW    3NC2    3NC9    3NCA    3Q92    3QA2    3QAI    3RO4   
SuperfamilyP50053
Human Protein AtlasENSG00000138030
Peptide AtlasP50053
HPRD11774
IPIIPI00029488   IPI00216136   IPI00556606   IPI00893008   
Protein Interaction databases
DIP (DOE-UCLA)P50053
IntAct (EBI)P50053
FunCoupENSG00000138030
BioGRIDKHK
STRING (EMBL)KHK
ZODIACKHK
Ontologies - Pathways
QuickGOP50053
Ontology : AmiGOketohexokinase activity  ketohexokinase activity  protein binding  ATP binding  cytoplasm  cytosol  response to sucrose  response to glucose  response to fructose  response to zinc ion  response to insulin  carbohydrate phosphorylation  fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate  extracellular exosome  
Ontology : EGO-EBIketohexokinase activity  ketohexokinase activity  protein binding  ATP binding  cytoplasm  cytosol  response to sucrose  response to glucose  response to fructose  response to zinc ion  response to insulin  carbohydrate phosphorylation  fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate  extracellular exosome  
Pathways : KEGGFructose and mannose metabolism   
NDEx NetworkKHK
Atlas of Cancer Signalling NetworkKHK
Wikipedia pathwaysKHK
Orthology - Evolution
OrthoDB3795
GeneTree (enSembl)ENSG00000138030
Phylogenetic Trees/Animal Genes : TreeFamKHK
HOVERGENP50053
HOGENOMP50053
Homologs : HomoloGeneKHK
Homology/Alignments : Family Browser (UCSC)KHK
Gene fusions - Rearrangements
Fusion : MitelmanITGA3/KHK [17q21.33/2p23.3]  [t(2;17)(p23;q21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHK
dbVarKHK
ClinVarKHK
1000_GenomesKHK 
Exome Variant ServerKHK
ExAC (Exome Aggregation Consortium)KHK (select the gene name)
Genetic variants : HAPMAP3795
Genomic Variants (DGV)KHK [DGVbeta]
DECIPHERKHK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHK 
Mutations
ICGC Data PortalKHK 
TCGA Data PortalKHK 
Broad Tumor PortalKHK
OASIS PortalKHK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKHK
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 KHK
DgiDB (Drug Gene Interaction Database)KHK
DoCM (Curated mutations)KHK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHK (select a term)
intoGenKHK
Cancer3DKHK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM229800    614058   
Orphanet3313   
MedgenKHK
Genetic Testing Registry KHK
NextProtP50053 [Medical]
TSGene3795
GENETestsKHK
Target ValidationKHK
Huge Navigator KHK [HugePedia]
snp3D : Map Gene to Disease3795
BioCentury BCIQKHK
ClinGenKHK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3795
Chemical/Pharm GKB GenePA30095
Clinical trialKHK
Miscellaneous
canSAR (ICR)KHK (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHK
EVEXKHK
GoPubMedKHK
iHOPKHK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 25 19:14:22 CEST 2017

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