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BLMH Gene

protein-coding   GIFtS: 68
GCID: GC17M028575

Bleomycin Hydrolase

  See BLMH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bleomycin Hydrolase1 2
BMH2 3 5
BH2 3
BLM Hydrolase2 3
EC 3.4.22.403 8

External Ids:    HGNC: 10591   Entrez Gene: 6422   Ensembl: ENSG000001085787   OMIM: 6024035   UniProtKB: Q138673   

Export aliases for BLMH gene to outside databases

Previous GC identifers: GC17M028328 GC17M030481 GC17M028720 GC17M025599 GC17M024785


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 alzheimer's disease. GO annotations related to this gene include cysteine-type peptidase activity and aminopeptidase activity.

UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867
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 (By similarity)

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLMH gene promoter:
         HFH-3   GR   Pbx1a   GR-beta   Tal-1beta   E47   AREB6   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLMH promoter sequence
   Search Chromatin IP Primers for BLMH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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: 17q11.2

BLMH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLMH gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M028575:  view genomic region     (about GC identifiers)

Start:
28,575,213 bp from pter      End:
28,619,184 bp from pter
Size:
43,972 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867 (See protein sequence)
Recommended Name: Bleomycin hydrolase  
Size: 455 amino acids; 52562 Da
Subunit: Homohexamer
2 PDB 3D structures from and Proteopedia for BLMH:
1CB5 (3D)        2CB5 (3D)    
Secondary accessions: B2R796 Q53F86 Q9UER9

Explore the universe of human proteins at neXtProt for BLMH: NX_Q13867

Explore proteomics data for BLMH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys42, Lys297, Lys391
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BLMH (Q13867) (see all 17)
     VWFGCDV  YVYEVVV  VNDPRPQ  DGGQWDM 


    See BLMH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000377.1  
    ENSEMBL proteins: 
     ENSP00000261714   ENSP00000462353   ENSP00000468681   ENSP00000462442   ENSP00000468486  
     ENSP00000466527   ENSP00000466948   ENSP00000378296  
    Reactome Protein details: Q13867

    BLMH Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for BLMH
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    Novus Biologicals BLMH Proteins
    Novus Biologicals BLMH Lysates
    Sino Biological Recombinant Protein for BLMH
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for BLMH
    Cloud-Clone Corp. Proteins for BLMH

     
    Search eBioscience for Proteins for BLMH 

     
    antibodies-online proteins for BLMH (23 products) 

     
    antibodies-online peptides for BLMH

    BLMH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals BLMH Antibodies
    Abcam antibodies for BLMH
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    antibodies-online antibodies for BLMH (47 products) 

    BLMH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for BLMH
    Cloud-Clone Corp. CLIAs for BLMH
    Search eBioscience for ELISAs for BLMH 
    antibodies-online kits for BLMH (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004134 Peptidase_C1B
     IPR000169 Pept_cys_AS

    Graphical View of Domain Structure for InterPro Entry Q13867

    ProtoNet protein and cluster: Q13867

    1 Blocks protein domain: IPB004134 Peptidase C1-like family

    UniProtKB/Swiss-Prot: BLMH_HUMAN, Q13867
    Similarity: Belongs to the peptidase C1 family


    Find genes that share domains with BLMH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BLMH_HUMAN, Q13867
    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 (By similarity)
    Catalytic activity: 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

         Genatlas biochemistry entry for BLMH:
    bleomycin hydrolase,neutral cysteine protease,papain superfamily,widely expressed,maybe involved in bleomycin
    induced pulmonary fibrosis

         Enzyme Number (IUBMB): EC 3.4.22.401 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity TAS9546396
    GO:0004180carboxypeptidase activity TAS9546396
    GO:0004197cysteine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI11350084
    GO:0008233peptidase activity ----
         
    Find genes that share ontologies with BLMH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BLMH:
     Upregulation of Wnt/beta-caten 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Blmh):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging 

    Find genes that share phenotypes with BLMH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Blmhtm1Geh for BLMH

       genOway: Develop your customized and physiologically relevant rodent model for BLMH

    miRNA
    Products:
        
    miRTarBase miRNAs that target BLMH:
    hsa-mir-484 (MIRT042229), hsa-mir-30c-5p (MIRT047889), hsa-mir-92a-3p (MIRT048998), hsa-mir-1226-3p (MIRT036413)

    Block miRNA regulation of human, mouse, rat BLMH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BLMH (see all 14):
    hsa-miR-561 hsa-miR-4272 hsa-miR-3065-3p hsa-miR-589* hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-1301
    SwitchGear 3'UTR luciferase reporter plasmidBLMH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BLMH
    Predesigned siRNA for gene silencing in human, mouse, rat BLMH

    Gene Editing
    Products:
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    Clone
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    OriGene ORF clones in mouse, rat for BLMH
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    GenScript: all cDNA clones in your preferred vector: BLMH (NM_000386)
    Sino Biological Human cDNA Clone for BLMH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BLMH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLMH

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLMH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BLMH_HUMAN, Q13867: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with BLMH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BLMH About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84


    Find genes that share SuperPaths with BLMH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for BLMH
        Antigen processing: Ubiquitination & Proteasome degradation


        Pathway & Disease-focused RT2 Profiler PCR Array including BLMH: 
              Cancer Drug Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BLMH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BLMH (Q138671, 2, 3 ENSP000002617144) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIOO759622, 3, ENSP000003392994MINT-64162 I2D: score=5 STRING: ENSP00000339299
    PDPK1O155302, 3MINT-8265452 I2D: score=2 
    APPP05067-41, ENSP000002849814EBI-718504,EBI-302641 I2D: score=3 STRING: ENSP00000284981
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=4 STRING: ENSP00000368797
    RPL11P629133, ENSP000003636764I2D: score=3 STRING: ENSP00000363676
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination TAS--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006508proteolysis TAS9546396
    GO:0009636response to toxic substance IEA--
    GO:0042493response to drug IEA--

    Find genes that share ontologies with BLMH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BLMH

    5 Novoseek inferred chemical compound relationships for BLMH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bleomycin 91.7 156 8620487 (7), 8639621 (4), 10404591 (3), 12167044 (3) (see all 50)
    thimet 66 2 14734113 (1)
    cysteine 64.5 25 8889821 (3), 10404591 (2), 8620487 (2), 9855622 (2) (see all 14)
    leucine 31.8 3 15187416 (1), 16455981 (1)
    lactate 0 1 9371686 (1)



    Find genes that share compounds with BLMH           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BLMH gene: 
    NM_000386.3  

    Unigene Cluster for BLMH:

    Bleomycin hydrolase
    Hs.371914  [show with all ESTs]
    Unigene Representative Sequence: NM_000386
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261714(uc002hez.2 uc010wbn.2) ENST00000578795 ENST00000578090
    ENST00000577623 ENST00000579957 ENST00000581037 ENST00000577306 ENST00000584603
    ENST00000582669 ENST00000579325 ENST00000580709 ENST00000577290 ENST00000582749
    ENST00000394819
    miRNA
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    Block miRNA regulation of human, mouse, rat BLMH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BLMH (see all 14):
    hsa-miR-561 hsa-miR-4272 hsa-miR-3065-3p hsa-miR-589* hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-1301
    SwitchGear 3'UTR luciferase reporter plasmidBLMH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BLMH
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    GenScript: all cDNA clones in your preferred vector: BLMH (NM_000386)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BLMH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLMH
    Primer
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    OriGene qPCR primer pairs and template standards for BLMH
    OriGene qSTAR qPCR primer pairs in human, mouse for BLMH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BLMH
      QuantiTect SYBR Green Assays in human, mouse, rat BLMH
      QuantiFast Probe-based Assays in human, mouse, rat BLMH

    Additional mRNA 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.120916053  DT.92458086  DT.100693584  DT.95124811  DT.95124772  DT.97859808  DT.75186169 
    DT.92458092 

    Selected AceView cDNA sequences (see all 342):

    BU167345 BM463898 AI189260 AU077335 CA416026 CB988732 BM792704 BC003616 
    CA426434 AA705502 AA774218 BF055310 CB156314 BE396899 CB114960 AI745577 
    AA417881 BM676957 AA989323 AU130273 BQ424536 AI190988 AI056959 W74447 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BLMH (see all 15)    About this scheme

    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:                          -     -           -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 12b ^ 13 ^ 14a · 14b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for BLMH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BLMH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTCAGTCA
    BLMH Expression
    About this image

    BLMH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLMH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.371914
        Pathway & Disease-focused RT2 Profiler PCR Array including BLMH: 
              Cancer Drug Resistance in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BLMH
    OriGene qSTAR qPCR primer pairs in human, mouse for BLMH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BLMH
    QuantiTect SYBR Green Assays in human, mouse, rat BLMH
    QuantiFast Probe-based Assays in human, mouse, rat BLMH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLMH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BLMH gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blmh1 , 5 bleomycin hydrolase1, 5 91.14(n)1
    93.19(a)1
      11 (46.16 cM)5
    1041841  NM_178645.41  NP_848760.11 
     769248095 
    chicken
    (Gallus gallus)
    Aves BLMH1 bleomycin hydrolase 74.51(n)
    75.38(a)
      395996  NM_205104.1  NP_990435.1 
    lizard
    (Anolis carolinensis)
    Reptilia BLMH6
    bleomycin hydrolase
    73(a)
    1 ↔ 1
    GL343462.1(507275-523411)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.98462 Xenopus laevis transcribed sequence with moderate similarity more 77.18(n)    BJ033232.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb13c012 wufb13c01 75.48(n)   336541  BC055572.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14401 , 3 cysteine-type endopeptidase3
    CG14401
    54(a)
    (best of 2)3
    59.22(n)1
    57.6(a)1
      7E93
    317761  NM_001103437.11  NP_001096907.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LAP3(YNL239W)4
    LAP31
    Cysteine aminopeptidase with homocysteine-thiolactonase more4
    LAP31
    48.46(n)1
    40.86(a)1
      14(200569-201933)4
    8554821, 4  NP_014160.21, 4 


    ENSEMBL Gene Tree for BLMH (if available)
    TreeFam Gene Tree for BLMH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BLMH (see all 819)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10505651,2,,4
    C,F,Hnon-pathogenic128636987(-) CCATTA/GTCCTG 2 I V mis1 ese336Minor allele frequency- N:0.00EA MN NA NS WA CSA EU 11573
    rs2016589681,2
    C--28575452(+) TGCAC-/ACCCCAC 1 -- ut310--------
    rs58198911,2
    C--28597520(+) ATCTC-/AAAAAA 1 -- int1 trp30--------
    rs1919069381,2
    --28635752(+) CTGTTG/TGGGCA 1 -- ds50010--------
    rs65051651,2
    C,F,A,H--28635760(+) GCAAAC/TTCAGT 1 -- ds500127Minor allele frequency- T:0.49NA NS EA WA CSA 2492
    rs1460423421,2
    --28635972(+) GATGCC/TGGTGA 1 -- ds50010--------
    rs116537771,2
    C,F,H--28636069(+) GAGCCA/CCCTGG 1 -- ds500116Minor allele frequency- C:0.03NS EA NA CSA WA 1889
    rs751535541,2
    C--28636174(+) GCACCA/TTCTAG 1 -- ut310--------
    rs38303171,2
    C--28636362(-) GGGTG-/TGCACAT 1 -- ut310--------
    rs105560981,2
    C--28636365(+) TGCAC-/A/AC  
            
    CCCAC
    2 -- ut310--------

    HapMap Linkage Disequilibrium report for BLMH (28575213 - 28619184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BLMH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2478144CNV Deletion19546169
    nsv2023CNV Insertion18451855

    Human Gene Mutation Database (HGMD): BLMH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BLMH
    DNA2.0 Custom Variant and Variant Library Synthesis for BLMH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602403   
    OMIM disorders: 104300  
    3 diseases for BLMH:    
    About MalaCards
    mutagen sensitivity    alzheimer's disease    germ cell cancer

    1 disease from the University of Copenhagen DISEASES database for BLMH:
    Alzheimer's disease

    Find genes that share disorders with BLMH           About GenesLikeMe

    7 Novoseek inferred disease relationships for BLMH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 53 12 9818937 (2), 10350576 (2), 10822352 (2), 10973933 (1) (see all 8)
    senile plaques 26.5 2 10350576 (1), 11350084 (1)
    neurodegenerative diseases 4.98 1 12604387 (1)
    dementia 0 1 10530514 (1)
    tumors 0 7 9331073 (2), 8620487 (2), 10404591 (1), 12555812 (1)
    lymphoma 0 1 8620487 (1)
    cancer 0 3 18398146 (1), 8063738 (1)

    Genetic Association Database (GAD): BLMH
    Human Genome Epidemiology (HuGE) Navigator: BLMH (9 documents)

    Export disorders for BLMH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BLMH gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with BLMH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression analysis of human bleomycin hydrolase, a cysteine proteinase involved in chemotherapy resistance. (PubMed id 8620487)1, 2, 9 Ferrando A.A.... Lopez-Otin C. (Cancer Res. 1996)
    2. Genetic variation in the bleomycin hydrolase gene and bleomycin-induced pulmonary toxicity in germ cell cancer patients. (PubMed id 15900213)1, 4, 9 Nuver J....Gietema J.A. (Pharmacogenet. Genomics 2005)
    3. Variation in bleomycin hydrolase gene is associated with reduced survival after chemotherapy for testicular germ cell cancer. (PubMed id 18398146)1, 4, 9 de Haas E.C....Gietema J.A. (J. Clin. Oncol. 2008)
    4. Crystal structure of human bleomycin hydrolase, a self- compartmentalizing cysteine protease. (PubMed id 10404591)1, 2, 9 O'Farrell P.A.... Joshua-Tor L. (Structure 1999)
    5. Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization. (PubMed id 8639621)1, 2, 9 Broemme D.... Payan D.G. (Biochemistry 1996)
    6. Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase. (PubMed id 9407121)1, 3, 9 Ferrando A.A....LA^pez-OtA-n C. (J. Biol. Chem. 1997)
    7. Genomic structure and genetic mapping of the human neutral cysteine protease bleomycin hydrolase. (PubMed id 9331073)1, 3, 9 Montoya S.E....Lazo J.S. (Cancer Res. 1997)
    8. 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, 9 Prince J.A....Brookes A.J. (Eur. J. Hum. Genet. 2001)
    9. Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan. (PubMed id 11099722)1, 4, 9 Hu C.J....Chang J.G. (J. Neurol. Sci. 2000)
    10. Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease. (PubMed id 17854420)1, 4 Llorca J....Combarros O. (Acta Neurol. Scand. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 642 HGNC: 1059 AceView: BLMH Ensembl:ENSG00000108578 euGenes: HUgn642
    ECgene: BLMH H-InvDB: BLMH

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BLMH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLMH Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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