BLMH Gene - Bleomycin Hydrolase
A cysteine peptidase involved in drug metabolism and detoxification
Gene Information Card
| Symbol | BLMH |
|---|---|
| Full Name | Bleomycin Hydrolase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 642 ncbi.nlm.nih.gov/gene/642 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q13867 |
| OMIM ID | 602403 |
| HGNC ID | 1059 |
| Aliases | BH, BMH, bleomycin hydrolase |
Description
BLMH encodes bleomycin hydrolase, a cysteine peptidase that inactivates the anticancer drug bleomycin by hydrolyzing the amide bond in its beta-aminoalanine moiety. The enzyme is also involved in the metabolism of other xenobiotics and in the processing of peptides for antigen presentation. It is expressed in most tissues and is localized to the cytoplasm. Genetic variants in BLMH have been associated with altered drug response and risk for Alzheimer disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | BLMH variants may affect amyloid-beta peptide degradation or clearance, contributing to disease risk. | PMID: 10861224, ClinVar |
| Bleomycin-Induced Pulmonary Fibrosis | Reduced BLMH activity leads to accumulation of bleomycin in lung tissue, increasing risk of fibrosis. | PMID: 11504736, ClinVar |
| Cancer (various) | BLMH expression is altered in some cancers; loss of function may affect chemotherapy response. | COSMIC, PMID: 20601956 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Kidney | 11.8 | Medium |
| Brain | 8.3 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 10.5 | Medium expression |
| A549 | 9.2 | Medium expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ile43Val | missense | 0.02 | Reduced enzyme activity |
| p.Arg145Cys | missense | 0.01 | Altered substrate specificity |
| p.Ala145Val | missense | 0.005 | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Ile43Val reduces catalytic activity, leading to decreased bleomycin inactivation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • bleomycin hydrolase activity |
| • proteolysis | • xenobiotic metabolic process |
| • cytoplasm |
Pathways
• Bleomycin metabolism
• Peptide hormone processing
Protein Summary
Bleomycin hydrolase is a 455-amino acid cysteine peptidase that forms a homodimer. It is widely expressed and localizes to the cytoplasm. The enzyme hydrolyzes bleomycin, a glycopeptide antibiotic used in chemotherapy, thereby protecting cells from its toxic effects. It also participates in the degradation of other peptides and may play a role in antigen processing. Structural studies reveal a papain-like fold with a catalytic triad (Cys73, His283, Asn304).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLMH Knockout HEK293 Cell Line | EDJ-KQ2562 | Human | 642 | Details Get a Quote |
| BLMH Knockout HCT 116 Cell Line | EDJ-KQ21860 | Human | 642 | Details Get a Quote |
| BLMH Knockout A-549 Cell Line | EDJ-KQ23226 | Human | 642 | Details Get a Quote |
| BLMH Knockout HeLa Cell Line | EDJ-KQ23227 | Human | 642 | Details Get a Quote |
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