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Aliases for BLMH Gene

Aliases for BLMH Gene

  • Bleomycin Hydrolase 2 3
  • BLM Hydrolase 3 4
  • EC 3.4.22.40 4 63
  • 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 alzheimer disease. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include peptidase activity and cysteine-type peptidase activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLMH Gene

Genomics for BLMH Gene

Regulatory Elements for BLMH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BLMH Gene

Chromosome:
17
Start:
30,248,195 bp from pter
End:
30,292,166 bp from pter
Size:
43,972 bases
Orientation:
Minus strand

Genomic View for BLMH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for BLMH Gene at MOPED

Post-translational modifications for BLMH Gene

  • Ubiquitination at Lys 42, Lys 297, and Lys 391
  • Modification sites at PhosphoSitePlus

Other Protein References for BLMH Gene

Antibody Products

  • R&D Systems Antibodies for BLMH (BLMH/Bleomycin Hydrolase)

Domains & Families for BLMH Gene

Protein Domains for BLMH Gene

Suggested Antigen Peptide Sequences for BLMH Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for BLMH Gene

Function for BLMH Gene

Molecular function for BLMH Gene

GENATLAS Biochemistry:
bleomycin hydrolase,neutral cysteine protease,papain superfamily,widely expressed,maybe involved in bleomycin induced pulmonary fibrosis
UniProtKB/Swiss-Prot CatalyticActivity:
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
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.

Enzyme Numbers (IUBMB) 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 --
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:

No data available for 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
Jensen Localization Image for BLMH Gene COMPARTMENTS Subcellular localization image for BLMH gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for BLMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BLMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006508 proteolysis IEA --
GO:0009636 response to toxic substance IEA --
GO:0042493 response to drug IEA --
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: NovoSeek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma Enzyme, substrate 142
cysteine Nutra 143
leucine Nutra 93

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

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

Transcripts for BLMH Gene

Unigene Clusters for BLMH Gene

Bleomycin hydrolase:
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for BLMH Gene



SOURCE GeneReport for Unigene cluster for BLMH Gene Hs.371914

genes like me logo Genes that share expression patterns with BLMH: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia BLMH 35
  • 92.77 (n)
  • 93.81 (a)
BLMH 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLMH 35
  • 93.7 (n)
  • 95.16 (a)
BLMH 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blmh 35
  • 91.14 (n)
  • 93.19 (a)
Blmh 16
Blmh 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BLMH 35
  • 99.78 (n)
  • 99.78 (a)
BLMH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Blmh 35
  • 90.92 (n)
  • 93.63 (a)
oppossum
(Monodelphis domestica)
Mammalia BLMH 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLMH 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLMH 35
  • 74.51 (n)
  • 75.38 (a)
BLMH 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLMH 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blmh 35
  • 72.49 (n)
  • 73.45 (a)
Str.6189 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9846 35
zebrafish
(Danio rerio)
Actinopterygii blmh 35
  • 70.51 (n)
  • 71.84 (a)
wufb13c01 35
blmh 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8256 35
fruit fly
(Drosophila melanogaster)
Insecta CG13423 37
  • 33 (a)
CG1440 37
  • 54 (a)
CG1440 35
  • 59.22 (n)
  • 57.6 (a)
CG13423 36
  • 32 (a)
OneToMany
CG1440 36
  • 49 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001341 35
  • 58.59 (n)
  • 56.67 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL204W 35
  • 50.39 (n)
  • 42.45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP3 35
  • 48.46 (n)
  • 40.86 (a)
LAP3 36
  • 40 (a)
OneToOne
LAP3 38
bread mold
(Neurospora crassa)
Ascomycetes NCU08333 35
  • 50.45 (n)
  • 43.24 (a)
Species with no ortholog for BLMH:
  • 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)

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 Sequence Context AA Info Type MAF
rs1050562 -- 30,272,819(-) GTTGG(A/T)GGGAG reference, synonymous-codon
rs1552472 -- 30,254,002(-) CTCTT(C/G)TGTTT intron-variant
rs1552473 -- 30,253,942(-) TTTTC(C/T)CTTTA intron-variant
rs2129785 -- 30,263,512(-) TACCA(A/G)CCTGG intron-variant
rs3103300 -- 30,291,350(+) CTGGG(C/G)GACGG frameshift-variant, reference

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

Variant ID Type Subtype PubMed ID
nsv2023 CNV Insertion 18451855
esv2478144 CNV Deletion 19546169

Variation tolerance for BLMH Gene

Residual Variation Intolerance Score: 20.28% 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)

Relevant External Links for BLMH Gene

HapMap Linkage Disequilibrium report
BLMH
Human Gene Mutation Database (HGMD)
BLMH

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

Disorders for BLMH Gene

MalaCards: The human disease database

(5) MalaCards diseases for BLMH Gene - From: OMIM, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
resistance to bleomycine in the treatment of testicular cancer
alzheimer disease
  • alzheimer disease, late-onset
mutagen sensitivity
pityriasis rubra pilaris
  • devergie's disease
germ cell cancer
  • malignant tumor of the germ cell
- elite association
Search BLMH in MalaCards View complete list of genes associated with diseases

Relevant External Links for BLMH

Genetic Association Database (GAD)
BLMH
Human Genome Epidemiology (HuGE) Navigator
BLMH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLMH
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. The C-terminus of human bleomycin hydrolase is required for protection against bleomycin-induced chromosomal damage. (PMID: 9748474) Lefterov I.M. … Lazo J.S. (Mutat. Res. 1998) 23 25 67
  2. Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase. (PMID: 9407121) Ferrando A.A. … LA^pez-OtA-n C. (J. Biol. Chem. 1997) 2 23 67
  3. Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. (PMID: 9331073) Montoya S.E. … Lazo J.S. (Cancer Res. 1997) 2 23 67
  4. Reduced homocysteine-thiolactonase activity in Alzheimer's disease. (PMID: 20308784) Suszynska J. … Jakubowski H. (J. Alzheimers Dis. 2010) 23 67
  5. Neutral cysteine protease bleomycin hydrolase is essential for the breakdown of deiminated filaggrin into amino acids. (PMID: 19286660) Kamata Y. … Takeda A. (J. Biol. Chem. 2009) 23 67

Products for BLMH Gene

Sources for BLMH Gene

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