Gene
hk1
- ID
- ZDB-GENE-040426-2848
- Name
- hexokinase 1
- Symbol
- hk1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have fructokinase activity; glucokinase activity; and mannokinase activity. Predicted to be involved in cellular glucose homeostasis and glycolytic process. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4G; anemia (multiple); hematologic cancer (multiple); obesity; and retinitis pigmentosa. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; nervous system; and neural tube. Orthologous to human HK1 (hexokinase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 33 figures from 14 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77618 (18 images)
- IMAGE:7148527 (18 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 4G | Alliance | Neuropathy, hereditary motor and sensory, Russe type | 605285 |
| congenital nonspherocytic hemolytic anemia 5 | Alliance | Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient | 235700 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 618547 | ||
| Retinitis pigmentosa 79 | 617460 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ATPase, nucleotide binding domain | Hexokinase | Hexokinase, binding site | Hexokinase, C-terminal | Hexokinase, N-terminal |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZUM3
|
918 |
Interactions and Pathways
No data available
Plasmids
No data available