KHK - ketohexokinase Gene

Also Known as FRUCTU

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3795

About KHK

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,086,772-27,100,762 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 77.2), liver (RPKM 59.5) and 2 other tissues.

Summary

This gene encodes Ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

KHK Products (2)

mRNA	Protein	Name
NM_000221.3	NP_000212.1	ketohexokinase isoform a
NM_006488.3	NP_006479.1	ketohexokinase isoform b

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	19237742	GOA
enables fructose binding	IDA IDA: Inferred from direct assay	19237742	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	19237742	GOA
enables ketohexokinase activity	IDA IDA: Inferred from direct assay	12941785	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	19237742	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fructose metabolic process	IDA IDA: Inferred from direct assay	12941785	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KHK Protein Structure

PfkB

0
100
200
298 a.a.

Protein Preferred Names	Protein Names
ketohexokinase	fructokinase

KHK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KHK	P50053	LHX9	Homo sapiens	Q9NQ69	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant KHK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70146	Ketohexokinase/KHK Protein, Human (HEK293, His)	AAH06233.1 (M1-V298)	≥ 95%, as determined by reducing SDS-PAGE.

KHK Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87163	ketohexokinase Antibody (YA6856)	WB, ICC/IF, IHC-P, FC	Human, Mouse

Related Diseases

Diseases	Alias
Fructosuria, Essential	Essential Fructosuria Ketohexokinase Deficiency Fructosuria Hepatic Fructokinase Deficiency Fructokinase Deficiency FRUCT Deficiency Of Fructokinase
Advanced Sleep Phase Syndrome, Familial, 3	Advanced Sleep Phase Syndrome 3 FASPS3 Familial Advanced Sleep Phase Syndrome 3 Sleep Phase Syndrome, Advanced, Familial, Type 3
Basidiobolomycosis	Infection By Basidiobolus Subcutaneous Mucoromycosis Due To Basidiobolus Ranarum
Retinitis Pigmentosa 62	RP62 Retinitis Pigmentosa, Type 62
Lumbosacral Lipoma
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
Renal Artery Atheroma	Atherosclerosis Of Renal Artery Renal Atherosclerosis Atherosclerotic Renal Disease Ras - [Renal Artery Stenosis] Renal Arterial Arteriosclerosis Renal Arterial Arteriosclerotic Disease Renal Arterial Stricture Renal Artery Stricture Renal Artery Stenosis Of Unknown Cause Renal Artery Stenosis Due To Atherosclerosis Renal Artery Stenosis Renal Artery Arteriosclerotic Disease Renal Artery Arteriosclerosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17613	Evocalcet	Activator	99.28%	Unkown

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P9925	Brodalumab	Inhibitor	99.18%	Unkown
HY-P9923	Benralizumab		99.46%	Unkown

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-U00461	PF-06835919	Inhibitor	99.53%	Phase 2
HY-149987	LY3522348	Inhibitor	98.30%	Phase 1

Inhibitory Antibodies (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99955	Rocatinlimab		99.95%	Phase 3
HY-P990610	KHK-2898	Inhibitor	97.16%	Phase 1
HY-P990609	KHK-2866		98.23%	Phase 1
HY-P991282	KHK2823	Inhibitor	/	Phase 1
HY-P991536	KHK6640	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P9923A	Benralizumab (anti-IL5RA)	Inducer	99.60%	Unkown
HY-12841A	KHK-IN-1 hydrochloride	Inhibitor	98.95%	Unkown
HY-103478	KHK-IN-2	Inhibitor	99.05%	Unkown
HY-12841	KHK-IN-1	Inhibitor	99.00%	Unkown
HY-159123	KHK-6	Inhibitor	/	Unkown
HY-180921	GS-1291269	Inhibitor	/	Unkown
HY-RS07240	KHK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-149605	KHK-IN-4	Inhibitor	/	Unkown
HY-162982	KHK-IN-6		/	Unkown
HY-163886	KHK-IN-5	Inhibitor	/	Unkown
HY-172610	KHK-IN-7	Inhibitor	/	Unkown
HY-17613S	Evocalcet-d4	Activator	/	Unkown
HY-208737	KHK-IN-8	Inhibitor	/	Unkown
HY-RS17728	Khk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24193	Khk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991918	KHK2840	Agonist	/	Unkown
HY-P992004	KHK2805	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KHK	VGNC	VGNC:42338
Felis catus	KHK	VGNC	VGNC:67937
Rattus norvegicus	KHK	RGD	RGD:2966
Macaca mulatta	KHK	VGNC	VGNC:74014
Mus musculus	KHK	MGD	MGI:1096353
Bos taurus	KHK	VGNC	VGNC:30543
Others	KHK	NCBI