Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BLMH Gene

Aliases for BLMH Gene

  • Bleomycin Hydrolase 2 3
  • BMH 3 4 6
  • BLM Hydrolase 3 4
  • EC 3.4.22.40 4 64
  • BH 3 4

External Ids for BLMH Gene

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 mutagen sensitivity and resistance to bleomycine in the treatment of testicular cancer. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include cysteine-type peptidase activity and aminopeptidase 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

Genomic Location for BLMH Gene

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

Regulatory Elements 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

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

Other Protein References for BLMH Gene

Domains for BLMH Gene

Protein Domains for BLMH Gene

UniProtKB/Swiss-Prot:

BLMH_HUMAN
Family:
  • Belongs to the peptidase C1 family.:
    • Q13867
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:

miRNA for BLMH Gene

No data available for Transcription Factor Targeting 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
cytosol 4
nucleus 4
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for BLMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
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 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: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

Compounds for BLMH Gene

(5) Novoseek inferred chemical compound relationships for BLMH Gene

Compound -log(P) Hits PubMed IDs
bleomycin 91.7 92
thimet 66 1
cysteine 64.5 19
leucine 31.8 2
lactate 0 1
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) (5.7) and Skin - Not Sun Exposed (Suprapubic) (5.5).

Integrated Proteomics: protein expression 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 expressions with BLMH: view

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 36
  • 99.78 (n)
  • 99.78 (a)
BLMH 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BLMH 36
  • 92.77 (n)
  • 93.81 (a)
BLMH 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLMH 36
  • 93.7 (n)
  • 95.16 (a)
BLMH 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blmh 36
  • 91.14 (n)
  • 93.19 (a)
Blmh 16
Blmh 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BLMH 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLMH 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Blmh 36
  • 90.92 (n)
  • 93.63 (a)
chicken
(Gallus gallus)
Aves BLMH 36
  • 74.51 (n)
  • 75.38 (a)
BLMH 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLMH 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9846 36
tropical clawed frog
(Silurana tropicalis)
Amphibia blmh 36
  • 72.49 (n)
  • 73.45 (a)
Str.6189 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8256 36
zebrafish
(Danio rerio)
Actinopterygii blmh 36
  • 70.51 (n)
  • 71.84 (a)
blmh 37
  • 71 (a)
OneToOne
wufb13c01 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001341 36
  • 58.59 (n)
  • 56.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13423 37
  • 32 (a)
OneToMany
CG1440 36
  • 59.22 (n)
  • 57.6 (a)
CG1440 37
  • 49 (a)
OneToMany
CG1440 38
  • 54 (a)
CG13423 38
  • 33 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL204W 36
  • 50.39 (n)
  • 42.45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP3 36
  • 48.46 (n)
  • 40.86 (a)
LAP3 37
  • 40 (a)
OneToOne
LAP3 39
bread mold
(Neurospora crassa)
Ascomycetes NCU08333 36
  • 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
rs1050565 Benign, - 30,249,058(-) CCATT(A/G)TCCTG reference, missense
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

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

Relevant External Links for BLMH Gene

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

Disorders for BLMH Gene

(1) OMIM Diseases for BLMH Gene (602403)

(1) University of Copenhagen DISEASES for BLMH Gene

(7) Novoseek inferred disease relationships for BLMH Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 53 11
senile plaques 26.5 2
neurodegenerative diseases 4.98 1
dementia 0 1
tumors 0 6

Relevant External Links for BLMH

Genetic Association Database (GAD)
BLMH
Human Genome Epidemiology (HuGE) Navigator
BLMH
genes like me logo Genes that share disorders with BLMH: view

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

Publications for BLMH Gene

  1. Cloning and expression analysis of human bleomycin hydrolase, a cysteine proteinase involved in chemotherapy resistance. (PMID: 8620487) Ferrando A.A. … Lopez-Otin C. (Cancer Res. 1996) 3 4 23
  2. Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization. (PMID: 8639621) Broemme D. … Payan D.G. (Biochemistry 1996) 3 4 23
  3. 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 3 23
  4. 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 3 23
  5. Crystal structure of human bleomycin hydrolase, a self- compartmentalizing cysteine protease. (PMID: 10404591) O'Farrell P.A. … Joshua-Tor L. (Structure 1999) 3 4 23

Products for BLMH Gene

Sources for BLMH Gene

Back to Top

Content