Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
642
Gene name Gene Name - the full gene name approved by the HGNC.
Bleomycin hydrolase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BLMH
Synonyms (NCBI Gene) Gene synonyms aliases
BH, BMH
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
MZF1 Activation 21190945
SP1 Activation 21190945
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602403 1059 ENSG00000108578
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease alzheimer disease type 1 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 10530514
Dermatitis Associate 31892708
Dermatitis Atopic Associate 21190945
Dermatitis Atopic Inhibit 31892708
Hodgkin Disease Associate 27327270
Ichthyosis Lamellar Inhibit 25219105
Inflammation Associate 31892708
Lung Diseases Associate 27327270
Neoplasms Associate 10404591
Neuroblastoma Associate 19556859