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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 (Ketohexokinase) is a Protein Coding gene. Diseases associated with KHK include Fructosuria, Essential and Nephronophthisis 3. Among its related pathways are Fructose metabolism and Fructose and mannose metabolism. Gene Ontology (GO) annotations related to this gene include fructokinase activity and ketohexokinase activity. An important paralog of this gene is RBKS.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004454 | ketohexokinase activity | IDA,IEA | 12941785 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Fructose metabolism |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Fructose and mannose metabolism | ||
4 | Uric Acid-Lowering Drugs Pathway, Pharmacodynamics | ||
5 | Glycosaminoglycan metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006000 | fructose metabolic process | IBA,IEA | 21873635 |
GO:0009744 | response to sucrose | IBA | 21873635 |
GO:0009749 | response to glucose | IBA | 21873635 |
GO:0009750 | response to fructose | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
fructose 1-phosphate |
|
15978-08-2 | ||||
ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
||
D-fructose 1-phosphate |
|
|
||||
D-Xylulose 1-phosphate |
|
63323-91-1 |
|
|||
L-Sorbose |
|
53188-23-1, 87-79-6 |
|
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: | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | KHK 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | KHK 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | KHK 33 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Khk 32 |
|
||
mouse (Mus musculus) |
Mammalia | Khk 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | KHK 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | KHK 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | KHK 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | khk 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | khk 33 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002483 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG7328 33 34 |
|
OneToMany | |
CG7551 33 |
|
OneToMany | |||
CG12289 33 34 |
|
OneToMany | |||
CG7335 33 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany |
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs104893643 | affects, Fructosuria, essential, Fructosuria (FRUCT) [MIM:229800] | 27,092,357(+) | G/A/C | coding_sequence_variant, intron_variant, missense_variant | |
rs104893644 | affects, Fructosuria, essential, Fructosuria (FRUCT) [MIM:229800] | 27,092,366(+) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
rs112920456 | uncertain-significance, Fructosuria, essential | 27,092,398(+) | C/G/T | coding_sequence_variant, intron_variant, synonymous_variant | |
rs1131375 | benign, Fructosuria, essential | 27,100,517(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
rs113859516 | likely-benign, Fructosuria, essential | 27,100,556(+) | G/A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6744n54 | CNV | loss | 21841781 |
esv2673470 | CNV | deletion | 23128226 |
esv3590133 | CNV | loss | 21293372 |
nsv455974 | CNV | loss | 19166990 |
nsv817673 | CNV | gain | 17921354 |
nsv833603 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fructosuria, essential |
|
|
nephronophthisis 3 |
|
|