Aliases &
Descriptions
for BLMH gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| bleomycin hydrolase1 2 | | BH1 2 3 | | BMH2 3 5 | | BLM hydrolase2 3 | | EC 3.4.22.403 |
Export aliases for BLMH gene to outside databasesPrevious GC identifers: GC17M028328 GC17M030481 GC17M028720 GC17M025599 GC17M028575 |
Summaries
for BLMH gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BLMH:
Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, theonly known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essentialcomponent of combination chemotherapy regimens for cancer. The protein contains the signature active site residues ofthe cysteine protease papain superfamily. (provided by RefSeq)
UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867Function: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumordrug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normaland malignant cells from BLM toxicity (By similarity)
|
Genomic Views
for BLMH gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BLMH gene promoter:
NF-kappaB1 GR-alpha C/EBPbeta SRF STAT3 NF-E2 p45 NF-E2 RP58 FOXL1 POU2F1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BLMH
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for BLMH  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2BLMH Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M024785: view genomic region
(about GC identifiers)
Start:
|
24,785,429 bp from pter |
End:
|
24,829,253 bp from pter |
Size:
|
43,825 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr17- 28,575,223-28,619,074 |
RefSeq DNA sequence:- NC_000017.10 NT_010799.15
|
Proteins
for BLMH gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867 (See
protein sequence)Recommended Name: Bleomycin hydrolase Size: 455 amino acids; 52562 Da
Subunit: Homohexamer
Subcellular location: Cytoplasm
PDB structure from  and Proteopedia  :1CB5 (3D)
2CB5 (3D)
Secondary accessions: B2R796 Q53F86 Q9UER9Explore the universe of human proteins at neXtProt for BLMH: NX_Q13867
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000377.1
ENSEMBL proteins: ENSP00000261714 ENSP00000378296
Human Recombinant Proteins
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
BLMH for ontologies About GeneDecksing
Antibodies for BLMH:
Assays for BLMH: |
Protein
Domains/
Families
for BLMH gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BLMH for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q13867ProtoNet protein and cluster: Q13867 1 Blocks protein family: IPB004134 Peptidase C1-like family
UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867Similarity: Belongs to the peptidase C1 family |
Gene Function
for BLMH gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867Function: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumordrug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normaland malignant cells from BLM toxicity (By similarity)Catalytic activity: Inactivates bleomycin B2 (a cytotoxic glycometallopeptide) by hydrolysis of a carboxyamide bond ofbeta-aminoalanine, but also shows general aminopeptidase activity. The specificity varies somewhat with source, butamino acid arylamides of Met, Leu and Ala are preferredEnzyme Number (IUBMB): EC 3.4.22.40
Genatlas biochemistry entry for BLMH:bleomycin hydrolase,neutral cysteine protease,papain superfamily,widely expressed,maybe involved in bleomycin inducedpulmonary fibrosis5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6): About this table
BLMH for ontologies About GeneDecksing
Animal Models: 9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Blmh):
BLMH for phenotypes About GeneDecksing
|
Pathways & Interactions
for BLMH gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
BLMH for pathways About GeneDecksing
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for BLMH
SABiosciences Pathway-Focused PCR Array including BLMH: PAHS-004A
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for BLMH
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLMH
4 Interacting proteins for BLMH (Q138671, 2) via UniProtKB, MINT, and/or STRINGAbout this table
3 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
BLMH for ontologies About GeneDecksing
|
Drugs & Compounds
for BLMH gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
BLMH for compounds About GeneDecksing
 Browse Tocris compounds for BLMH
5  Novoseek chemical compound relationships for BLMH gene
About this table
|
Transcripts
for BLMH gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for BLMH gene: NM_000386.2 Additional cDNA sequence: AF091082.1 AK057600.1 AK223403.1 AK301948.1 AK312896.1 BC003616.2 BT007018.1 X92106.1 17 DOTS entries: DT.101983117 DT.315911 DT.95124813 DT.100807028 DT.95124820 DT.100810339 DT.100810343 DT.100810344 DT.417729 DT.92458086 DT.120916053 DT.75186169 DT.95124811 DT.100693584 DT.92458092 DT.95124772 DT.97859808 24/342 AceView cDNA sequences (see all 342): BU163437 AU121157 BU167345 AA927540 BQ687565 CB156314 BQ690347 AA774218 BF002346 CB988732 AI702325 AA417881 BE780996 BE272690 N80853 AI190988 BP373319 BM463898 BE513584 BQ639431 CB988621 BI768468 BP346168 T87209
 highest scoring ESTs for BLMH:X92106 AA223448 AU077335 AU098904 BM755543 AA071022 AA113907 AL552976 AL559155 AL702789 Unigene Cluster for BLMH: Bleomycin hydrolase Hs.371914 [show with all ESTs]Unigene Representative Sequence: NM_000386
GeneLoc Exon Structure
5/15 Alternative Splicing Database (ASD) splice patterns (SP) for BLMH (see all 15)
| 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: | | | | | | | | | - | | - | | | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | |
About this scheme
ECgene alternative splicing isoforms for BLMH
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000261714(uc002hez.1) ENST00000394819(uc010wbn.1)
|
Expression
for BLMH gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| BLMH expression in normal and diseased human tissues
1 / 2 / 3 4 probe-sets matching BLMH gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 37700_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
0.84 |
1.08 |
X92106 |
1.00 |
0.90 |
0.95 |
1 |
| 394_at2, 3
|
U95-A |
1 |
0.81 |
1.00 |
0.93 |
0.93 |
X92106 |
1.00 |
0.90 |
0.95 |
1 |
| 202179_at2, 3
|
U133-A |
1 |
1.00 |
1.00 |
-- |
-- |
NM_000386 |
0.60 |
1.00 |
0.82 |
1 |
| 202179_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
BLMH for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GTCTCAGTCA
SOURCE GeneReport for Unigene cluster: Hs.371914
Expression variation in blood from EXPOLDB for BLMH SABiosciences Expression via Pathway-Focused PCR Array including BLMH: PAHS-004A
|
Orthologs
for BLMH gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for BLMH gene from 5/16 species (see all 16)
About this table Species with no ortholog for BLMH
ENSEMBL Gene Tree for BLMH (if available) |
Paralogs
for BLMH gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for BLMH gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 17 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for BLMH (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BLMH
1 CNV: 102436 | | QIAGEN SeqTarget long-range PCR primers for resequencing BLMH |
|
Disorders & Mutations
for BLMH gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BLMH for disorders About GeneDecksing
OMIM: 602403 disorders: 104300
7 Novoseek disease relationships for BLMH gene
About this table
Human Gene Mutation Database (HGMD): BLMH
Genetic Association Database (GAD): BLMH
Human Genome Epidemiology (HuGE) Navigator: BLMH (9 documents)
Export disorders and mutations for BLMH gene to outside databases
|
Medical News
for BLMH gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for BLMH gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/64 PubMed articles for BLMH gene, integrated from 7 sources (see all 64):
(articles sorted by number of sources associating them with BLMH)- Cloning and expression analysis of human bleomycin hydrolase, a cysteine proteinase involved in chemotherapy resistance. (PubMed id 8620487)1, 2, 7 Ferrando A.A.... Lopez-Otin C. (1996)
- Genetic variation in the bleomycin hydrolase gene and bleomycin-induced pulmonary toxicity in germ cell cancer patients. (PubMed id 15900213)1, 4, 7 Nuver J....Gietema J.A. (2005)
- Crystal structure of human bleomycin hydrolase, a self- compartmentalizing cysteine protease. (PubMed id 10404591)1, 2, 7 O'Farrell P.A.... Joshua-Tor L. (1999)
- Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization. (PubMed id 8639621)1, 2, 7 Broemme D.... Payan D.G. (1996)
- Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase. (PubMed id 9407121)1, 3, 7 Ferrando A.A....Lopez-Otin C. (1997)
- Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. (PubMed id 9331073)1, 3, 7 Montoya S.E....Lazo J.S. (1997)
- Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PubMed id 11436125)1, 4, 7 Prince J.A....Brookes A.J. (2001)
- Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan. (PubMed id 11099722)1, 4, 7 Hu C.J....Chang J.G. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. (PubMed id 12082022)1, 4 Tuimala J....Norppa H. (2002)
|
External Searches for BLMH gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BLMH gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BLMH gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BLMH gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for BLMH gene:
Search GeneIP for patents involving BLMH
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BLMH gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for BLMH |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for BLMH |
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