Gene Gene information from NCBI Gene database.
Entrez ID 642
Gene name Bleomycin hydrolase
Gene symbol BLMH
Synonyms (NCBI Gene)
BHBMH
Chromosome 17
Chromosome location 17q11.2
Summary 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 c
miRNA miRNA information provided by mirtarbase database.
261
miRTarBase ID miRNA Experiments Reference
MIRT048998 hsa-miR-92a-3p CLASH 23622248
MIRT047889 hsa-miR-30c-5p CLASH 23622248
MIRT042229 hsa-miR-484 CLASH 23622248
MIRT036413 hsa-miR-1226-3p CLASH 23622248
MIRT624555 hsa-miR-141-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MZF1 Activation 21190945
SP1 Activation 21190945
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0004177 Function Aminopeptidase activity EXP 9668046, 11062501
GO:0004177 Function Aminopeptidase activity IBA
GO:0004177 Function Aminopeptidase activity TAS 9546396
GO:0004180 Function Carboxypeptidase activity TAS 9546396
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602403 1059 ENSG00000108578
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13867
Protein name Bleomycin hydrolase (BH) (BLM hydrolase) (BMH) (EC 3.4.22.40)
Protein function The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cel
PDB 1CB5 , 2CB5 , 7V5L , 7V5S , 7V5T , 7XF9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03051 Peptidase_C1_2 5 451 Peptidase C1-like family Family
Sequence
Sequence length 455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Alzheimer disease type 1 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 27327270, 29683071
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10530514 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 15211070
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 9407121
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis BEFREE 10200322
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis Pubtator 31892708 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 21190945 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 31892708 Inhibit
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 21190945
★☆☆☆☆
Found in Text Mining only
Eczema Eczema BEFREE 21190945
★☆☆☆☆
Found in Text Mining only