BLMH bleomycin hydrolase [Homo sapiens (human)] - Gene

Summary

Official Symbol: BLMHprovided by HGNC
Official Full Name: bleomycin hydrolaseprovided by HGNC
Primary source: HGNC:HGNC:1059
See related: Ensembl:ENSG00000108578 MIM:602403; AllianceGenome:HGNC:1059
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BH; BMH
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 chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in skin (RPKM 54.6), placenta (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30248203..30291944, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31192754..31236495, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (28575221..28618962, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bleomycin hydrolase regulates the release of chemokines important for inflammation and wound healing by keratinocytes.
Title: Bleomycin hydrolase regulates the release of chemokines important for inflammation and wound healing by keratinocytes.
Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic Surveillance of NAD-Capped RNAs.
Title: Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic Surveillance of NAD-Capped RNAs.
the BLMH gene single nucleotide polymorphism A1450G (rs1050565) influences BLMH activity and late pulmonary toxicity.
Title: Effect of Bleomycin Hydrolase Gene Polymorphism on Late Pulmonary Complications of Treatment for Hodgkin Lymphoma.
Ubc9 plays different roles of action in antitumor agents in chemotherapy. The process requires bleomycin hydrolase and poly(ADP-ribose) polymerase-1. The results are beneficial to deeply understanding of Ubc9 functions and for precise prediction of chemotherapy outcomes in tumors.
Title: Involvement of bleomycin hydrolase and poly(ADP-ribose) polymerase-1 in Ubc9-mediated resistance to chemotherapy agents.
Bleomycin hydrolase downregulation in lesional skin of adult atopic dermatitis patients is independent of filaggrin gene mutations
Title: Bleomycin hydrolase downregulation in lesional skin of adult atopic dermatitis patients is independent of FLG gene mutations.
This study findings suggest that Blmh interacts with diverse cellular processes from energy metabolism and anti-oxidative defenses to cell cycle, cytoskeleton dynamics, and synaptic plasticity essential for normal brain homeostasis.
Title: Hyperhomocysteinemia and bleomycin hydrolase modulate the expression of mouse brain proteins involved in neurodegeneration.
We also detected significant association between XRCC1, XRCC3, and BLHX polymorphisms and a high frequency of chromosomal damage
Title: Association among XRCC1, XRCC3, and BLHX gene polymorphisms and chromosome instability in lymphocytes from patients with endometriosis and ovarian cancer.
The caspase-dependent cleavage of BLH was confirmed by cleavage of partly-purified human bleomycin hydrolase with caspase-3.
Title: Cleavage of bleomycin hydrolase by caspase-3 during apoptosis.
BH may play an important role during the late stage of epidermal differentiation.
Title: Expression of bleomycin hydrolase in keratinization disorders.
present study suggests that our new method can detect novel genes of interest and that BLMH is a suppressor gene in HCC
Title: Identification of the bleomycin hydrolase gene as a methylated tumor suppressor gene in hepatocellular carcinoma using a novel triple-combination array method.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH45325 (e-PCR)
- UniSTS:74169

BLMH__4450 (e-PCR)
- UniSTS:463560

RH91724 (e-PCR)
- UniSTS:90570

SHGC-111606 (e-PCR)
- UniSTS:168428

SHGC-111440 (e-PCR)
- UniSTS:183020

SHGC-24274 (e-PCR)
- UniSTS:31738

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables aminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carboxypeptidase activity	TAS Traceable Author Statement more info	PubMed
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	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in homocysteine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	TAS Traceable Author Statement 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
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: bleomycin hydrolase

Names: BLM hydrolase

NP_000377.1

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.