Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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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 accessionTerm nameEvidence codeGo 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