• Gene id: 642

Gene Summary

• Gene Symbol: BLMH   Gene   UCSC   Ensembl
• Aliases: BH, BMH
• Gene name: bleomycin hydrolase
• Alternate names: bleomycin hydrolase, BLM hydrolase,
• Gene location: 17q11.2 (30291943: 30248202)     Exons: 12     NC_000017.11
• Gene summary(Entrez): 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 c
• OMIM: 602403

Protein Summary

• Protein general information: Q13867  
  • Name: Bleomycin hydrolase (BH) (BLM hydrolase) (BMH) (EC 3.4.22.40)
  • Length: 455  
  • Mass: 52562
• Sequence:

  MSSSGLNSEKVAALIQKLNSDPQFVLAQNVGTTHDLLDICLKRATVQRAQHVFQHAVPQEGKPITNQKSSGRCWI
  FSCLNVMRLPFMKKLNIEEFEFSQSYLFFWDKVERCYFFLSAFVDTAQRKEPEDGRLVQFLLMNPANDGGQWDML
  VNIVEKYGVIPKKCFPESYTTEATRRMNDILNHKMREFCIRLRNLVHSGATKGEISATQDVMMEEIFRVVCICLG
  NPPETFTWEYRDKDKNYQKIGPITPLEFYREHVKPLFNMEDKICLVNDPRPQHKYNKLYTVEYLSNMVGGRKTLY
  NNQPIDFLKKMVAASIKDGEAVWFGCDVGKHFNSKLGLSDMNLYDHELVFGVSLKNMNKAERLTFGESLMTHAMT
  FTAVSEKDDQDGAFTKWRVENSWGEDHGHKGYLCMTDEWFSEYVYEVVVDRKHVPEEVLAVLEQEPIILPAWDPM
  GALAE

• Structural information:
  • Interpro: IPR038765  IPR000169  IPR004134  
  • Prosite: PS00139
  • CDD: cd00585
  • PDB: 1CB5 2CB5
  • PDBsum: 1CB5 2CB5
  • STRING: ENSP00000261714
• Other Databases: GeneCards:  BLMH  Malacards:  BLMH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0004177	aminopeptidase activity	TAS	molecular function
GO:0004180	carboxypeptidase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0009636	response to toxic substance	IBA	biological process
GO:0043418	homocysteine catabolic process	IBA	biological process
GO:0008234	cysteine-type peptidase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881