HKDC1
Hexokinase Domain Containing 1
Gene Information Card
| Symbol | HKDC1 |
|---|---|
| Full Name | Hexokinase Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 80201 ncbi.nlm.nih.gov/gene/80201 |
| Ensembl ID | ENSG00000156510 |
| UniProt ID | Q2TB90 |
| OMIM ID | 617221 |
| HGNC ID | 23306 |
| Aliases | dJ1009E24.1, HKDC1_HUMAN |
Description
HKDC1 (hexokinase domain containing 1) is a protein-coding gene located on chromosome 10q22.1. It encodes a member of the hexokinase family, which catalyzes the first step of glucose metabolism by phosphorylating glucose to glucose-6-phosphate. HKDC1 is expressed in various tissues and has been implicated in glucose homeostasis and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gestational diabetes mellitus | Altered glucose phosphorylation due to HKDC1 variants may impair insulin secretion and glucose uptake during pregnancy. | PMID: 27523596 |
| Type 2 diabetes | HKDC1 polymorphisms are associated with fasting glucose levels and insulin resistance. | PMID: 30297907 |
| Obesity | HKDC1 expression in adipose tissue correlates with body mass index and metabolic dysfunction. | PMID: 31551529 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Pancreas | 6.7 | Low |
| Kidney | 5.1 | Low |
| Small intestine | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 7.8 | Adipocyte precursor cells |
| MIN6 | 6.5 | Mouse pancreatic beta-cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs474796 | SNP | 0.15 (global) | Associated with altered glucose tolerance |
| rs10830963 | SNP | 0.20 (European) | Linked to gestational diabetes risk |
| c.1045C>T | Missense | <0.01 | Reduced enzymatic activity in vitro |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., c.1045C>T) reduce hexokinase activity, impairing glucose phosphorylation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature.
Dominant Negative (DN)
Not described for HKDC1.
View complete mutation data：
Gene Ontology (GO)
| • hexokinase activity (GO:0004396) | • ATP binding (GO:0005524) |
| • cellular glucose homeostasis (GO:0001678) | • glycolytic process (GO:0006096) |
| • phosphotransferase activity (GO:0016773) |
Pathways
• Glycolysis / Gluconeogenesis (Reactome R-HSA-70171)
• Glucose metabolism (KEGG hsa00010)
Protein Summary
HKDC1 encodes a 917-amino acid protein with a hexokinase domain that catalyzes glucose phosphorylation. It shares structural similarity with other hexokinases but has distinct tissue expression and regulatory properties. The protein is localized to the cytoplasm and may play a role in glucose sensing and metabolic adaptation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HKDC1 Knockout HEK293 Cell Line | EDJ-KQ1508 | Human | 80201 | Details Get a Quote |
| HKDC1 Knockout A-549 Cell Line | EDJ-KQ21129 | Human | 80201 | Details Get a Quote |
| HKDC1 Knockout HCT 116 Cell Line | EDJ-KQ19785 | Human | 80201 | Details Get a Quote |
| HKDC1 Knockout HeLa Cell Line | EDJ-KQ57309 | Human | 80201 | Details Get a Quote |
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