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 supe... See more...

Aliases for BLMH Gene

Aliases for BLMH Gene

  • Bleomycin Hydrolase 2 3 4 5
  • BLM Hydrolase 3 4
  • EC 3.4.22.40 4 54
  • BMH 3 4
  • BH 3 4

External Ids for BLMH Gene

Previous GeneCards Identifiers for BLMH Gene

  • GC17M028328
  • GC17M030481
  • GC17M028720
  • GC17M025599
  • GC17M028575
  • GC17M024785

Summaries for BLMH Gene

Entrez Gene Summary for BLMH 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 chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]

GeneCards Summary for BLMH Gene

BLMH (Bleomycin Hydrolase) is a Protein Coding gene. Diseases associated with BLMH include Resistance To Bleomycine In The Treatment Of Testicular Cancer and Mutagen Sensitivity. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include peptidase activity and cysteine-type peptidase activity.

UniProtKB/Swiss-Prot Summary for BLMH Gene

  • 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 cells from BLM toxicity.

Gene Wiki entry for BLMH Gene

Additional gene information for BLMH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BLMH Gene

Genomics for BLMH Gene

GeneHancer (GH) Regulatory Elements for BLMH Gene

Promoters and enhancers for BLMH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J030290 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 759 +0.6 566 2.8 ZNF24 POLR2A HDAC2 HCFC1 MYC NFYC L3MBTL2 MAX MNT ZBTB33 BLMH lnc-BLMH-2 GOSR1 ATAD5 LRRC37BP1 SH3GL1P2 SMURF2P1 NUFIP2 TBC1D29P RF00026-430
GH17J030104 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas 20.9 +187.3 187261 1.5 GTF3C2 CTCF ZBTB6 RBPJ NR2F6 MIXL1 MYC CC2D1A ELF1 HLF CORO6 BLMH SH3GL1P2 NUFIP2 ATAD5 RNU6-1267P GOSR1 DPRXP4 RNF135 ENSG00000264456
GH17J030343 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 19.1 -53.0 -53026 4 LCORL FOXA1 MLX SMARCE1 RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 ENSG00000207132 BLMH RNU6-1267P TBC1D29P CPD EFCAB5 NSRP1 RF00026-431 RNU6-990P
GH17J030331 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 20.4 -40.1 -40081 4.9 MIXL1 ETV6 HLF ZNF652 SP1 CREM ZNF384 IKZF1 CEBPA RXRA TMIGD1 BLMH RNU6-1267P CORO6 TBC1D29P LOC105371721
GH17J030339 Promoter/Enhancer 1.2 Ensembl ENCODE 19.8 -48.4 -48361 1.5 CTCF CREB1 MIXL1 RAD21 ZNF652 ELF3 SP7 PPARG KAT8 ZIC2 BLMH RNU6-1267P SUZ12P1 ENSG00000207132 TMIGD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BLMH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BLMH gene promoter:
  • AREB6
  • c-Myb
  • E47
  • GR
  • GR-alpha
  • GR-beta
  • HFH-3
  • Pbx1a
  • Tal-1beta

Genomic Locations for BLMH Gene

Genomic Locations for BLMH Gene
chr17:30,248,195-30,292,166
(GRCh38/hg38)
Size:
43,972 bases
Orientation:
Minus strand
chr17:28,575,213-28,619,184
(GRCh37/hg19)
Size:
43,972 bases
Orientation:
Minus strand

Genomic View for BLMH Gene

Genes around BLMH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLMH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLMH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLMH Gene

Proteins for BLMH Gene

  • Protein details for BLMH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13867-BLMH_HUMAN
    Recommended name:
    Bleomycin hydrolase
    Protein Accession:
    Q13867
    Secondary Accessions:
    • B2R796
    • Q53F86
    • Q9UER9

    Protein attributes for BLMH Gene

    Size:
    455 amino acids
    Molecular mass:
    52562 Da
    Quaternary structure:
    • Homohexamer.

    Three dimensional structures from OCA and Proteopedia for BLMH Gene

neXtProt entry for BLMH Gene

Selected DME Specific Peptides for BLMH Gene

Q13867:
  • VWFGCDV
  • KNMNKAERL
  • PKKCFPES
  • KEPEDGRLVQ
  • HELVFGVS
  • ILNHKMRE
  • GGRKTLYNNQPI
  • CLGNPPETF
  • SLMTHAM
  • WDPMGALA
  • KWRVENSWGED
  • SGRCWIFSCLN
  • YVYEVVV
  • NIEEFEFSQSY
  • VNDPRPQ
  • MRLPFMKK
  • DGGQWDM

Post-translational modifications for BLMH Gene

  • Ubiquitination at Lys42, Lys297, and Lys391
  • Modification sites at PhosphoSitePlus

Other Protein References for BLMH Gene

Domains & Families for BLMH Gene

Gene Families for BLMH Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BLMH Gene

Suggested Antigen Peptide Sequences for BLMH Gene

GenScript: Design optimal peptide antigens:
  • Bleomycin hydrolase (BLMH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13867

UniProtKB/Swiss-Prot:

BLMH_HUMAN :
  • Belongs to the peptidase C1 family.
Family:
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with BLMH: view

Function for BLMH Gene

Molecular function for BLMH Gene

UniProtKB/Swiss-Prot 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 cells from BLM toxicity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Inactivates bleomycin B2 (a cytotoxic glycometallopeptide) by hydrolysis of a carboxyamide bond of beta-aminoalanine, but also shows general aminopeptidase activity. The specificity varies somewhat with source, but amino acid arylamides of Met, Leu and Ala are preferred.; EC=3.4.22.40;.
GENATLAS Biochemistry:
bleomycin hydrolase,neutral cysteine protease,papain superfamily,widely expressed,maybe involved in bleomycin induced pulmonary fibrosis

Enzyme Numbers (IUBMB) for BLMH Gene

Phenotypes From GWAS Catalog for BLMH Gene

Gene Ontology (GO) - Molecular Function for BLMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity TAS 9546396
GO:0004180 carboxypeptidase activity TAS 9546396
GO:0004197 cysteine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 11350084
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with BLMH: view
genes like me logo Genes that share phenotypes with BLMH: view

Animal Models for BLMH Gene

MGI Knock Outs for BLMH:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BLMH Gene

Localization for BLMH Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLMH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLMH gene
Compartment Confidence
cytosol 5
nucleus 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BLMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA,TAS 21630459
GO:0005737 cytoplasm IBA,TAS 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BLMH: view

Pathways & Interactions for BLMH Gene

genes like me logo Genes that share pathways with BLMH: view

Gene Ontology (GO) - Biological Process for BLMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006508 proteolysis IEA --
GO:0009636 response to toxic substance IEA,IBA 21873635
GO:0042493 response to drug IEA --
GO:0043418 homocysteine catabolic process IBA 21873635
genes like me logo Genes that share ontologies with BLMH: view

No data available for SIGNOR curated interactions for BLMH Gene

Drugs & Compounds for BLMH Gene

(3) Drugs for BLMH Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved, Investigational Pharma Enzyme, substrate 172

(2) Additional Compounds for BLMH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BLMH: view

Transcripts for BLMH Gene

mRNA/cDNA for BLMH Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLMH Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9: - -
SP10: -
SP11: - -
SP12: -
SP13:
SP14:
SP15:

ExUns: 12b ^ 13 ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for BLMH Gene

GeneLoc Exon Structure for
BLMH
ECgene alternative splicing isoforms for
BLMH

Expression for BLMH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BLMH Gene

mRNA differential expression in normal tissues according to GTEx for BLMH Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.7) and Skin - Not Sun Exposed (Suprapubic) (x5.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BLMH Gene



NURSA nuclear receptor signaling pathways regulating expression of BLMH Gene:

BLMH

SOURCE GeneReport for Unigene cluster for BLMH Gene:

Hs.371914

Evidence on tissue expression from TISSUES for BLMH Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Skin(2.9)
  • Kidney(2.7)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with BLMH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLMH Gene

Orthologs for BLMH Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BLMH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLMH 33 32
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BLMH 33 32
  • 93.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BLMH 33 32
  • 92.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Blmh 17 33 32
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Blmh 32
  • 90.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BLMH 33
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BLMH 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLMH 33 32
  • 74.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLMH 33
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blmh 32
  • 72.49 (n)
Str.6189 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.9846 32
zebrafish
(Danio rerio)
Actinopterygii blmh 33 32
  • 70.51 (n)
OneToOne
wufb13c01 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8256 32
fruit fly
(Drosophila melanogaster)
Insecta CG1440 33 34 32
  • 59.22 (n)
OneToMany
CG13423 33 34
  • 32 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001341 32
  • 58.59 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL204W 32
  • 50.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP3 35 33 32
  • 48.46 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08333 32
  • 50.45 (n)
Species where no ortholog for BLMH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLMH Gene

ENSEMBL:
Gene Tree for BLMH (if available)
TreeFam:
Gene Tree for BLMH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLMH: view image

Paralogs for BLMH Gene

No data available for Paralogs for BLMH Gene

Variants for BLMH Gene

Sequence variations from dbSNP and Humsavar for BLMH Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1050565 benign, BLEOMYCIN HYDROLASE POLYMORPHISM, - 30,249,058(-) T/C coding_sequence_variant, missense_variant
rs1000030389 -- 30,265,223(-) C/T intron_variant
rs1000125876 -- 30,255,433(-) ATTAAT/AT intron_variant
rs1000146206 -- 30,265,498(-) G/A intron_variant
rs1000213216 -- 30,290,968(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BLMH Gene

Variant ID Type Subtype PubMed ID
esv2478144 CNV deletion 19546169
esv3582599 CNV loss 25503493
nsv2023 CNV insertion 18451855

Variation tolerance for BLMH Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.04; 84.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLMH Gene

Human Gene Mutation Database (HGMD)
BLMH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLMH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLMH Gene

Disorders for BLMH Gene

MalaCards: The human disease database

(6) MalaCards diseases for BLMH Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BLMH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BLMH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BLMH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BLMH Gene

Publications for BLMH Gene

  1. Variation in bleomycin hydrolase gene is associated with reduced survival after chemotherapy for testicular germ cell cancer. (PMID: 18398146) de Haas EC … Gietema JA (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008) 3 23 43 56
  2. Genetic variation in the bleomycin hydrolase gene and bleomycin-induced pulmonary toxicity in germ cell cancer patients. (PMID: 15900213) Nuver J … Gietema JA (Pharmacogenetics and genomics 2005) 3 23 43 56
  3. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince JA … Brookes AJ (European journal of human genetics : EJHG 2001) 3 23 43 56
  4. Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan. (PMID: 11099722) Hu CJ … Chang JG (Journal of the neurological sciences 2000) 3 23 43 56
  5. Crystal structure of human bleomycin hydrolase, a self-compartmentalizing cysteine protease. (PMID: 10404591) O'Farrell PA … Joshua-Tor L (Structure (London, England : 1993) 1999) 3 4 23 56

Products for BLMH Gene

Sources for BLMH Gene