Blmh bleomycin hydrolase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Blmhprovided by MGI
Official Full Name: bleomycin hydrolaseprovided by MGI
Primary source: MGI:MGI:1345186
See related: Ensembl:ENSMUSG00000020840 AllianceGenome:MGI:1345186
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bh; Bmh
Summary: The encoded protein is a cytoplasmic cysteine peptidase involved in inactivation of bleomycin, a glycopeptide which is a component of combination chemotherapy regimens for cancer. This encoded enzyme is highly conserved, and it contains the signature active site residues of cysteine protease papain superfamily enzymes. It is postulated that this enzyme has protective effects against bleomycin-induced pulmonary fibrosis and bleomycin tumor resistance. [provided by RefSeq, Jan 2010]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 34.4), CNS E14 (RPKM 21.5) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 46.16 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (76836482..76878215)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (76945656..76987389)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of the Homocysteine Thiolactone Detoxifying Enzyme Bleomycin Hydrolase, in Mice, Causes Memory and Neurological Deficits and Worsens Alzheimer's Disease-Related Behavioral and Biochemical Traits in the 5xFAD Model of Alzheimer's Disease.
Title: Deletion of the Homocysteine Thiolactone Detoxifying Enzyme Bleomycin Hydrolase, in Mice, Causes Memory and Neurological Deficits and Worsens Alzheimer's Disease-Related Behavioral and Biochemical Traits in the 5xFAD Model of Alzheimer's Disease.
Blmh interacts with diverse cellular processes--lipoprotein, amino acid and protein, carbohydrate, and energy metabolisms, detoxification, antioxidant defenses--that are essential for normal kidney homeostasis.
Title: Methionine-induced hyperhomocysteinemia and bleomycin hydrolase deficiency alter the expression of mouse kidney proteins involved in renal disease.
Bleomycin hydrolase protects against neurodegeneration associated with elevated homocysteine thiolactone levels in hyperhomocysteinemia and Alzheimer's disease.
Title: Metabolism and neurotoxicity of homocysteine thiolactone in mice: protective role of bleomycin hydrolase.
BH does not play a major role either in generating or destroying class I major histocompatibility antigen (MHC)-presented peptides that bind to the MHC in living cells. These results point to redundant functions between peptidases.
Title: Analysis of the role of bleomycin hydrolase in antigen presentation and the generation of CD8 T cell responses.
bleomycin hydrolase functions as an MHC class I epitope-processing protease
Title: Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:236646 (e-PCR)
- UniSTS:236646

PMC16392P1 (e-PCR)
- UniSTS:271479

RH138491 (e-PCR)
- UniSTS:220578

D11Mit245 (e-PCR), detects polymorphism
- UniSTS:126445

AI035728 (e-PCR)
- UniSTS:160502

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminopeptidase activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type aminopeptidase activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type peptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in homocysteine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to toxic substance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: bleomycin hydrolase

Names: BLM hydrolase

NP_848760.1

EC 3.4.22.40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.