ENSG00000138030


Homo sapiens

Features
Gene ID: ENSG00000138030
  
Biological name :KHK
  
Synonyms : ketohexokinase / KHK / P50053
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p23.3
Gene start: 27086747
Gene end: 27100772
  
Corresponding Affymetrix probe sets: 205175_s_at (Human Genome U133 Plus 2.0 Array)   211028_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260599
Ensembl peptide - ENSP00000404741
Ensembl peptide - ENSP00000260598
NCBI entrez gene - 3795     See in Manteia.
OMIM - 614058
RefSeq - XM_017004061
RefSeq - XM_005264296
RefSeq - XM_005264298
RefSeq - XM_006712008
RefSeq - XM_006712009
RefSeq - XM_017004060
RefSeq - NM_000221
RefSeq - NM_006488
RefSeq - XM_005264294
RefSeq Peptide - NP_000212
RefSeq Peptide - NP_006479
swissprot - C9JDL1
swissprot - P50053
swissprot - A0A140VJM6
Ensembl - ENSG00000138030
  
Related genetic diseases (OMIM): 229800 - [Fructosuria], 229800
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 khkENSDARG00000029874Danio rerio
 KhkENSMUSG00000029162Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011611  Carbohydrate kinase PfkB
 IPR029056  Ribokinase-like
 IPR034093  Ketohexokinase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006000 fructose metabolic process IEA
 biological_processGO:0009744 response to sucrose IEA
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0009750 response to fructose IEA
 biological_processGO:0010043 response to zinc ion IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0046835 carbohydrate phosphorylation IEA
 biological_processGO:0061624 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate TAS
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004454 ketohexokinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Essential fructosuria
Fructose catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138030 KHK / P50053 / ketohexokinase  / complex






 

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contact: otassy@igbmc.fr