Endometriosis Knowledgebase

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Gene id

642

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (30292165: 30248194) 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 chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]

OMIM

602403

Protein Summary

Protein general information

Q13867

Name: Bleomycin hydrolase (BH) (BLM hydrolase) (BMH) (EC 3.4.22.40)

Length: 455 Mass: 52,562

Sequence

MSSSGLNSEKVAALIQKLNSDPQFVLAQNVGTTHDLLDICLKRATVQRAQHVFQHAVPQEGKPITNQKSSGRCWI
FSCLNVMRLPFMKKLNIEEFEFSQSYLFFWDKVERCYFFLSAFVDTAQRKEPEDGRLVQFLLMNPANDGGQWDML
VNIVEKYGVIPKKCFPESYTTEATRRMNDILNHKMREFCIRLRNLVHSGATKGEISATQDVMMEEIFRVVCICLG
NPPETFTWEYRDKDKNYQKIGPITPLEFYREHVKPLFNMEDKICLVNDPRPQHKYNKLYTVEYLSNMVGGRKTLY
NNQPIDFLKKMVAASIKDGEAVWFGCDVGKHFNSKLGLSDMNLYDHELVFGVSLKNMNKAERLTFGESLMTHAMT
FTAVSEKDDQDGAFTKWRVENSWGEDHGHKGYLCMTDEWFSEYVYEVVVDRKHVPEEVLAVLEQEPIILPAWDPM
GALAE

Structural information

Interpro:	IPR000169 IPR004134
Prosite:	PS00139
Pfam:	PF03051
CDD:	cd00585
PDB:	1CB5 2CB5
PDBsum:	1CB5 2CB5
MINT:	1397729
STRING:	ENSP00000261714;

Other Databases

GeneCards: BLMH; Malacards: BLMH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitinatio n	TAS	biological_process
GO:0004177	aminopeptidase activity	EXP	molecular_function
GO:0004177	aminopeptidase activity	EXP	molecular_function
GO:0004180	carboxypeptidase activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0008234	cysteine-type peptidase a ctivity	TAS	molecular_function
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0000209	protein polyubiquitinatio n	TAS	biological_process
GO:0004177	aminopeptidase activity	EXP	molecular_function
GO:0004177	aminopeptidase activity	TAS	molecular_function
GO:0004177	aminopeptidase activity	EXP	molecular_function
GO:0004180	carboxypeptidase activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	IEA	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	TAS	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	IEA	molecular_function
GO:0008234	cysteine-type peptidase a ctivity	TAS	molecular_function
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0042493	response to drug	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0000209	protein polyubiquitinatio n	TAS	biological_process
GO:0004177	aminopeptidase activity	EXP	molecular_function
GO:0004177	aminopeptidase activity	TAS	molecular_function
GO:0004177	aminopeptidase activity	EXP	molecular_function
GO:0004180	carboxypeptidase activity	TAS	molecular_function
GO:0004197	cysteine-type endopeptida se activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006508	proteolysis	TAS	biological_process
GO:0008234	cysteine-type peptidase a ctivity	TAS	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 11436125
Endometriosis	PMID: 24615029
Ovarian cancer	INFBASE24615029
Endometriosis	INFBASE24615029

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24615029	Endometrio sis	(XRCC1 codons 194 and 399, XPD codons 312 and 751, and XRCC3 codon 241), (BLHX codon 443)		212 (72 patient s with endometr iosis, 70 with ovarian cancer, and 70 healthy individuals (c ontrols))		BLMH XRCC1 XRCC3	Show abstract