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Aliases & Descriptions for KHK
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 2.7.1.3 3 ketohexokinase 2
Descriptions Hepatic fructokinase 3 ketohexokinase (fructokinase) 2
Search outside databases for aliases for KHK genePrevious GC identifers: GC02P027231 GC02P027402 GC02P027267 GC02P027284
Summaries for KHK (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for KHK : This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. Theproduct of this gene is the first enzyme with a specialized pathway that catabolizes dietaryfructose. Alternatively spliced transcript variants encoding different isoforms have beenidentified. [provided by RefSeq]
Genomic Location for KHK
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the KHK gene Entrez Gene cytogenetic band: 2p23.3 Ensembl cytogenetic band: 2p23.3 HGNC cytogenetic band: 2p23.3-p23.2 KHK Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P027221:
(about GC identifiers )
Start:
27,163,115 bp from pter
End:
27,177,123 bp from pter
Size:
14,009 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_022184.14 Proteins for KHK
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 (See
protein sequence )Recommended Name: Ketohexokinase Size : 298 amino acids; 32730 Da
Subunit : Dimer of A-A, A-C or C-C (Probable)
Caution : Form C has not yet been fully sequenced in its N-terminal (from 1-69)
PDB structures from and Proteopedia : 2HLZ (3D)
 2HQQ (3D)
 2HW1 (3D)
 3B3L (3D)
 
Secondary accessions : Q99532 Q9BRJ3 Q9UMN1Alternative splicing : 2 isoforms : P50053-1 P50053-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000212.1 NP_006479.1 ENSEMBL proteins: ENSP00000260599 ENSP00000260598 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 1 Gene Ontology (GO) cellular component term (links to tree view) :
About this table Antibodies for KHK: Assays for KHK:
Protein
Domains/ Families for KHK(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P50053 ProtoNet protein and cluster: P50053
1 Blocks protein family : IPB002173 Carbohydrate kinase UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 Similarity : Belongs to the carbohydrate kinase pfkB family
Gene Function for KHK
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_006488 Applied Biosystems Silencer ® siRNAs for KHK Sigma-Aldrich siRNA and siRNA Panels for KHK Sigma-Aldrich shRNA Panels and shRNA for KHK Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000221                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000221                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000221  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000221 UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 Catalytic activity : ATP + D-fructose = ADP + D-fructose 1-phosphateEnzyme regulation : Requires potassium. Inhibition by ADPEnzyme Number (IUBMB): EC 2.7.1.3
Genatlas biochemistry entry for KHK :ketohexokinase,fructose metabolism,energy pathway,expressed in liver,renal cortex and smallintestine 4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for KHK
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for KHK (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 Pathway : Carbohydrate metabolism; fructose metabolism
5/22 Interacting proteins for KHK (ENSP00000260599 3 P50053 1 ) via UniProtKB, MINT, and/or STRING (see all 22
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005975 carbohydrate metabolic process
IEA --
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Drugs & Compounds for KHK (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for KHK 3 Novoseek chemical compound relationships for KHK gene
About this table
Transcripts for KHK(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_006488 Sigma-Aldrich siRNA and siRNA Panels for KHK Sigma-Aldrich shRNA Panels and shRNA for KHK Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000221 NM_006488
REFSEQ mRNAs for KHK gene (2 alternative transcripts): NM_000221.2 NM_006488.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000221 NM_006488
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000221                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000221                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000221  
Additional cDNA sequence: AK130033.1 AK223075.1 BC006233.2 BX648873.1 CR456801.1 CR591043.1 CR600808.1 CR603641.1 CR604516.1 CR608955.1 CR610051.1 CR612248.1 CR617023.1 CR618568.1 CR622392.1 CR622479.1 CR625259.1 X78677.1 X78678.1
6 DOTS entries : DT.447396 DT.97794122 DT.100839952 DT.95104826 DT.95104793 DT.95104795
24/168 AceView cDNA sequences (see all 168
):AA342313 CB154910 CB137744 BM745791 CR600808 CR622479 BQ893175 CB148802 CR617023 CR610051 BM695404 CR622392 CB141195 NM_006488 CB148825 BM753815 CB148820 CB148348 AI347475 BQ064138 X78678 CB139063 CR625259 CR591043
highest scoring ESTs for KHK :X78678 AA342313 AA714633 AA714645 AA858018 AI056782 AI078198 AI085406 AI245267 AI247727
Unigene Cluster for KHK: Ketohexokinase (fructokinase) Hs.567297 [show with all ESTs ] Unigene Representative Sequence: NM_000221 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KHK (see all 8
) ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c SP1 :             -     -   -                     SP2 :             -   -   -                       SP3 :           -   -   -   -   -                     SP4 :             -     -                       SP5 :             -     -   -                    
About this scheme ECgene alternative splicing isoforms for KHK 2 Ensembl transcripts including schematic representations : ENST00000260599
ENST00000260598
Expression for KHK
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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KHK expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for KHK 1 / 2 / 3
7 probe-sets matching KHK gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.567297 Expression variation in blood from EXPOLDB for KHK
UniProtKB/Swiss-Prot: KHK_HUMAN, P50053 Tissue specificity : Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also foundin adrenal, muscle, brain and eye
Orthologs for KHK
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for KHK gene from 5/6 species (see all 6
)
About this table Species with no ortholog for KHK ENSEMBL Gene Tree for KHK Paralogs for KHK (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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--
SNPs/Variants for KHK (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for KHK (up to first 250kb)
Disorders & Mutations for KHK
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 229800 UniProtKB/Swiss-Prot: KHK_HUMAN, P50053
Defects in KHK are the cause of fructosuria [MIM:229800]. Fructosuria is a benign defectof intermediary metabolism
3 Novoseek disease relationships for KHK gene
About this table Genatlas disease: KHK fructosuria Human Gene Mutation Database : KHK
Medical News for KHK (Possibly Related Articles in
Doctor's Guide )
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Publications for KHK (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/29 PubMed articles for KHK gene (see all 29
): Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). (PubMed id 7833921) 1, 2, 3, 4 Bonthron D.T.... Steinmann B. (1994) Structure and alternative splicing of the ketohexokinase gene. (PubMed id 9799106) 1, 3, 4 Hayward B.E. and Bonthron D.T. (1998) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23. (PubMed id 8662230) 1, 3 Hayward B.E....Bonthron D.T. (1996) The expression of ketohexokinase is diminished in human clear cell type of renal cell carcinoma. (PubMed id 16372272) 1, 3 Hwa J.S....Kang K.R. (2006) Ketohexokinase-dependent metabolism of fructose induces proinflammatory mediators in proximal tubular cells. (PubMed id 19158351) 1, 3 Cirillo P....Sautin Y.Y. (2009) Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria. (PubMed id 12941785) 1, 3 Asipu A....Bonthron D.T. (2003) Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348) 3 Barbe L....Andersson-Svahn H. (2008) Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931) 3 Ewing R.M....Figeys D. (2007) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 3 Kimura K.... Sugano S. (2006)
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Genome Databases showing KHK
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing KHK
(According to HUGE )
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Specialized Databases showing KHK (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for KHK (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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