Gene

hk1

ID

ZDB-GENE-040426-2848

Name

hexokinase 1

Symbol

hk1 Nomenclature History

Previous Names

DrHXK1 (1)
im:7148527
wu:fc09d08
wu:fc16e02
wu:fc21e02
wu:fq14b11
zgc:55790 (1)
zgc:77618

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to enable fructokinase activity; glucokinase activity; and mannokinase activity. Predicted to be involved in several processes, including glucose 6-phosphate metabolic process; glycolytic process; and intracellular glucose homeostasis. Predicted to act upstream of or within carbohydrate metabolic process and phosphorylation. Predicted to be located in mitochondrial membrane. Predicted to be active in cytosol and mitochondrion. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; nervous system; and neural tube. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4G; anemia (multiple); hematologic cancer (multiple); obesity; and retinitis pigmentosa (multiple). Orthologous to human HK1 (hexokinase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

33 figures from 14 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:77618 (18 images)
IMAGE:7148527 (18 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hk1 Human Ortholog

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
retinitis pigmentosa 79	Alliance	Retinitis pigmentosa 79	617460
		Neurodevelopmental disorder with visual defects and brain anomalies	618547

Associated With hk1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR019807	Hexokinase, binding site
Domain	IPR022672	Hexokinase, N-terminal
Domain	IPR022673	Hexokinase, C-terminal
Family	IPR001312	Hexokinase
Homologous_superfamily	IPR043129	ATPase, nucleotide binding domain