BLMH Gene

Name	bleomycin hydrolase
Description	Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Bleomycin hydrolase (BLMH) is a widely expressed, neutral cysteine protease with multifaceted roles in cellular homeostasis and disease. In the cytosol, BLMH participates in the detoxification of the antitumor drug bleomycin, thereby modulating the extent of bleomycin‐induced DNA damage, mutagen sensitivity, and clinical outcome in patients undergoing bleomycin‐containing chemotherapy regimens."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n In the skin, BLMH plays a pivotal role in terminal epidermal differentiation by mediating the proteolytic degradation of filaggrin into free amino acids that constitute natural moisturizing factors; diminished BLMH expression has been linked to defects in the stratum corneum, contributing to conditions such as atopic dermatitis and other keratinization disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n Beyond its roles in drug metabolism and skin barrier function, BLMH contributes to neuroprotective processes by processing pathogenic protein fragments – for instance, its proteolytic activity has been implicated in the cleavage of mutant huntingtin as well as in the detoxification of reactive metabolites such as homocysteine thiolactone, a neurotoxic agent whose accumulation is associated with neurodegenerative disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n In addition, BLMH has been shown to influence antigen processing by trimming peptide substrates for major histocompatibility complex class I presentation, although its role in this context appears largely redundant with other cytosolic aminopeptidases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n Moreover, altered expression or genetic polymorphisms in BLMH have been associated with tumorigenesis—for example, epigenetic silencing of BLMH has been observed in hepatocellular carcinoma, suggesting a potential tumor‐suppressive function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n Finally, post‐translational regulation of BLMH, such as caspase‐mediated cleavage during apoptosis, further highlights its importance in cellular stress responses and drug-induced cell death."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jarno Tuimala, Gabor Szekely, Sarolta Gundy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/23.6.1003"}], "href": "https://doi.org/10.1093/carcin/23.6.1003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12082022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12082022"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Esther C de Haas, Nynke Zwart, Coby Meijer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation in bleomycin hydrolase gene is associated with reduced survival after chemotherapy for testicular germ cell cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Oncol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1200/JCO.2007.14.1606"}], "href": "https://doi.org/10.1200/JCO.2007.14.1606"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18398146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18398146"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ádám Jóna, Zsófia Miltényi, Szilárd Póliska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effect of Bleomycin Hydrolase Gene Polymorphism on Late Pulmonary Complications of Treatment for Hodgkin Lymphoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0157651"}], "href": "https://doi.org/10.1371/journal.pone.0157651"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27327270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27327270"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Francesca Maffei, Fabio Carbone, Sabrina Angelini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Micronuclei frequency induced by bleomycin in human peripheral lymphocytes: correlating BLHX polymorphism with mutagen sensitivity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mutat Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mrfmmm.2007.10.008"}], "href": "https://doi.org/10.1016/j.mrfmmm.2007.10.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18082847"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18082847"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Valérie Pendaries, Jeremy Malaisse, Laurence Pellerin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Knockdown of filaggrin in a three-dimensional reconstructed human epidermis impairs keratinocyte differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jid.2014.259"}], "href": "https://doi.org/10.1038/jid.2014.259"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24940654"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24940654"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yayoi Kamata, Hideki Maejima, Akira Watarai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of bleomycin hydrolase in keratinization disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Dermatol Res (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00403-011-1180-6"}], "href": "https://doi.org/10.1007/s00403-011-1180-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22037625"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22037625"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Rebecca Riise, Lina Odqvist, Johan Mattsson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bleomycin hydrolase regulates the release of chemokines important for inflammation and wound healing by keratinocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-019-56667-6"}], "href": "https://doi.org/10.1038/s41598-019-56667-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31892708"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31892708"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Tamara Ratovitski, Ekaterine Chighladze, Elaine Waldron, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.185348"}], "href": "https://doi.org/10.1074/jbc.M110.185348"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21310951"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21310951"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Kamila Borowczyk, Joanna Tisończyk, Hieronim Jakubowski "}, {"type": "b", "children": [{"type": "t", "text": "Metabolism and neurotoxicity of homocysteine thiolactone in mice: protective role of bleomycin hydrolase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Amino Acids (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00726-011-1207-5"}], "href": "https://doi.org/10.1007/s00726-011-1207-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22227865"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22227865"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Charles F Towne, Ian A York, Levi B Watkin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of the role of bleomycin hydrolase in antigen presentation and the generation of CD8 T cell responses."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Immunol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4049/jimmunol.178.11.6923"}], "href": "https://doi.org/10.4049/jimmunol.178.11.6923"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17513741"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17513741"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Joanna Suszyńska-Zajczyk, Magdalena Luczak, Lukasz Marczak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hyperhomocysteinemia and bleomycin hydrolase modulate the expression of mouse brain proteins involved in neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Alzheimers Dis (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/JAD-132033"}], "href": "https://doi.org/10.3233/JAD-132033"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24496069"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24496069"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Yang Chen, Rong Xu, Jianguo Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cleavage of bleomycin hydrolase by caspase-3 during apoptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/or.2013.2484"}], "href": "https://doi.org/10.3892/or.2013.2484"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23708668"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23708668"}]}]}]}
Synonyms	BMH, BH
Proteins	BLMH_HUMAN
NCBI Gene ID	642
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BLMH has 6,939 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets.

Click the + buttons to view associations for BLMH from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BLMH Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BLMH gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of BLMH gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of BLMH gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BLMH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BLMH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BLMH gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BLMH gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BLMH gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BLMH gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BLMH gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BLMH gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BLMH gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BLMH protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with BLMH gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BLMH gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BLMH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BLMH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing BLMH protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BLMH gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BLMH protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing BLMH protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BLMH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BLMH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of BLMH gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BLMH gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BLMH gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BLMH gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of BLMH protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by BLMH gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with BLMH gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BLMH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BLMH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BLMH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DrugBank Drug Targets	interacting drugs for BLMH protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at BLMH gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BLMH gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of BLMH gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing BLMH from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with BLMH gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with BLMH gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.