HMOX1 (Heme Oxygenase 1): Gene, Function, and Clinical Significance
A comprehensive biomedical overview of the HMOX1 gene, including its genomic context, protein function, expression patterns, associated diseases, and mutation landscape.
Gene Information Card
| Symbol | HMOX1 |
|---|---|
| Full Name | Heme Oxygenase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 3162 ncbi.nlm.nih.gov/gene/3162 |
| Ensembl ID | ENSG00000100292 |
| UniProt ID | P09601 |
| OMIM ID | 141250 |
| HGNC ID | 5013 |
| Aliases | HO-1, HSP32, bK286B10 |
Description
HMOX1 encodes heme oxygenase 1, an essential enzyme that catalyzes the rate-limiting step in heme degradation, producing biliverdin, carbon monoxide (CO), and free iron. This enzyme is induced by various stressors, including oxidative stress, hypoxia, and inflammatory cytokines, and plays a cytoprotective role by reducing pro-oxidant heme levels and generating anti-inflammatory and anti-apoptotic products. HMOX1 is widely expressed across tissues and is implicated in numerous physiological and pathological processes, including inflammation, ischemia-reperfusion injury, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heme oxygenase-1 deficiency | Loss-of-function mutations lead to reduced enzyme activity, causing severe endothelial injury, hemolysis, and renal injury. | OMIM 141250; ClinVar |
| Chronic obstructive pulmonary disease (COPD) | Altered HMOX1 expression and promoter polymorphisms affect susceptibility and progression. | NCBI Gene; PubMed |
| Atherosclerosis | HMOX1-derived CO and bilirubin exert anti-inflammatory and anti-oxidative effects, modulating plaque development. | PubMed |
| Sepsis | HMOX1 upregulation protects against organ damage during systemic inflammation. | PubMed |
| Cancer (multiple types) | HMOX1 expression is often elevated in tumors, promoting cell survival and resistance to therapy. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | High | High expression due to red pulp macrophages |
| Liver | High | Hepatocytes and Kupffer cells |
| Bone Marrow | Medium | Hematopoietic cells |
| Lung | Medium | Alveolar macrophages and epithelial cells |
| Kidney | Medium | Tubular epithelial cells |
| Brain | Low | Neurons and glia |
| Heart | Low | Cardiomyocytes |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | High | Liver cancer cell line |
| A549 | Medium | Lung carcinoma |
| MCF7 | Low | Breast cancer |
| K562 | High | Chronic myeloid leukemia |
| THP-1 | High | Monocytic leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.413A>G (p.Tyr138Cys) | Missense | Rare | Reduced enzyme activity; associated with HMOX1 deficiency |
| c.82_83del (p.Leu28fs) | Frameshift | Rare | Loss of function; severe clinical phenotype |
| c.458T>C (p.Leu153Pro) | Missense | Rare | Impaired protein stability |
| c.637C>T (p.Arg213Ter) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic HMOX1 mutations are loss-of-function, leading to reduced or absent enzyme activity, resulting in heme accumulation and oxidative damage.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression is typically due to transcriptional upregulation rather than mutation.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming inactive dimers, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • heme oxygenase activity | • metal ion binding |
| • response to oxidative stress | • heme catabolic process |
| • cellular response to hypoxia | • anti-apoptotic process |
Pathways
• Heme degradation
• Carbon monoxide signaling
• Iron metabolism
• Response to oxidative stress
• IL-6 signaling
Protein Summary
HMOX1 is a 32 kDa microsomal enzyme that cleaves heme to biliverdin, CO, and ferrous iron. It is induced by Nrf2 and other transcription factors in response to stress. The protein is anchored to the endoplasmic reticulum via a C-terminal transmembrane domain, with the catalytic domain facing the cytosol. HMOX1 has anti-inflammatory, anti-apoptotic, and anti-proliferative effects, and its expression is modulated in various diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMOX1 Knockout HEK293 Cell Line | EDJ-KQ1501 | Human | 3162 | Details Get a Quote |
| HMOX1 Knockout A-549 Cell Line | EDJ-KQ21116 | Human | 3162 | Details Get a Quote |
| HMOX1 Knockout HeLa Cell Line | EDJ-KQ21118 | Human | 3162 | Details Get a Quote |
| HMOX1 Knockout HCT 116 Cell Line | EDJ-KQ19775 | Human | 3162 | Details Get a Quote |
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