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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BLMH Gene

protein-coding   GIFtS: 67
GCID: GC17M028575

Bleomycin Hydrolase

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 germ cell cancer, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010799.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BLMH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13867

  • 4/17 DME Specific Peptides for BLMH (Q13867) (see all 17)
     VWFGCDV  YVYEVVV  VNDPRPQ  DGGQWDM 

    BLMH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BLMH Protein Expression
    REFSEQ proteins: NP_000377.1  
    ENSEMBL proteins: 
     ENSP00000261714   ENSP00000462353   ENSP00000468681   ENSP00000462442   ENSP00000468486  
     ENSP00000466527   ENSP00000466948   ENSP00000378296  
    Reactome Protein details: Q13867
    Human Recombinant Protein Products for BLMH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for BLMH (BLMH/Bleomycin Hydrolase)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for BLMH
    OriGene Custom MassSpec 
    OriGene Custom Protein Services 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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    BLMH for ontologies           About GeneDecksing



    BLMH Antibody Products: 
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    Abcam antibodies for BLMH
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    LSBio Antibodies in human, mouse, rat for BLMH 

    Assay Products for BLMH: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for BLMH 
    Cloud-Clone Corp. CLIAs for BLMH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    BLMH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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 ----
         
    BLMH for ontologies           About GeneDecksing


    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  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging 

    BLMH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Blmhtm1Geh for BLMH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BLMH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BLMH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BLMH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BLMH 

    miRNA
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    8/14 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLMH


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BLMH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for BLMH
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System



    BLMH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLMH

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

    5/83 Interacting proteins for BLMH (Q138671, 2, 3 ENSP000002617144) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    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 (GO ID links to tree view):    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 IEA--
    GO:0009636response to toxic substance IEA--
    GO:0042493response to drug IEA--

    BLMH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BLMH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about BLMH

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BLMH
    8/14 QIAGEN miScript miRNA 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
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BLMH
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BLMH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLMH
    Sirion Biotech Customized lentivirus for stable overexpression of BLMH 
                         Customized lentivirus expression plasmids for stable overexpression of BLMH 
    Primer
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      QIAGEN 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 

    24/342 AceView cDNA sequences (see all 342):

    BI768468 AI189260 AI318426 AA903743 T87209 N80853 BP346168 BE396899 
    BQ690347 CA426434 BC003616 AU077335 BQ424536 AA774218 BU163437 BQ052359 
    AA989323 AA701306 BM792704 CB156314 BF055310 BQ687565 BU167345 BQ639431 

    GeneLoc Exon Structure

    5/15 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See BLMH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BLMH

    SOURCE GeneReport for Unigene cluster: Hs.371914
        SABiosciences Expression via Pathway-Focused PCR Array including BLMH: 
              Cancer Drug Resistance in human mouse rat

    Primer
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BLMH gene from 7/18 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
    Lap3p1
    48.38(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/819 SNPs in BLMH are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602403   
    OMIM disorders: 104300  
    15 diseases for BLMH:    About MalaCards
    mutagen sensitivity    germ cell cancer    pityriasis rubra pilaris    autistic disorder
    hydrops fetalis    alpha thalassemia    thalassemia    intellectual disability
    alzheimer's disease    dementia    atopic dermatitis    pulmonary fibrosis
    dermatitis    pneumonia    hepatocellular carcinoma

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

    BLMH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for BLMH gene, integrated from 9 sources (see all 84):
    (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. (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. (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. (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. (1999)
    5. Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization. (PubMed id 8639621)1, 2, 9 Broemme D.... Payan D.G. (1996)
    6. Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase. (PubMed id 9407121)1, 3, 9 Ferrando A.A....Lopez-Otin C. (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. (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. (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. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 642 HGNC: 1059 AceView: BLMH Ensembl:ENSG00000108578 euGenes: HUgn642
    ECgene: BLMH H-InvDB: BLMH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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