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BLMH Gene

protein-coding   GIFtS: 64

GC17M024785
bleomycin hydrolase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(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

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

Export aliases for BLMH gene to outside databases

Previous GC identifers: GC17M028328 GC17M030481 GC17M028720 GC17M025599 GC17M028575


(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, 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)

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)


(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: 17q11.2

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 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  

(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 Q9UER9

Explore 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 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    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: BLMH
    GenScript Custom Purified and Recombinant Proteins Services for BLMH 
    Novus Biologicals Proteins for BLMH
    Novus Biologicals Lysates for BLMH
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction IEA--
    GO:0005634 nucleus TAS8639621
    GO:0005737 cytoplasm IEA--
    About this table

    BLMH for ontologies           About GeneDecksing



    Antibodies for BLMH: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for BLMH
    R&D Systems Antibodies for BLMH (BLMH/Bleomycin Hydrolase)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for BLMH 
    Novus Biologicals Antibodies for BLMH
    Browse antibodies at Epitomics

    Assays for BLMH: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BLMH 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for BLMH 


    (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:
     IPR004134 Peptidase_C1B
     IPR000169 Pept_cys_AS

    Graphical View of Domain Structure for InterPro Entry Q13867

    ProtoNet protein and cluster: Q13867

    1 Blocks protein family: IPB004134 Peptidase C1-like family

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


    (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, 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
    Enzyme Number (IUBMB): EC 3.4.22.40 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for BLMH
    Sigma-Aldrich shRNA for BLMH
    OriGene 29mer shRNA kits in GFP-retroviral vector: BLMH
    OriGene shRNA RFP: BLMH
    OriGene basic RS shRNA: BLMH
    OriGene siRNA: BLMH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of BLMH 
    miRNA:Sigma-Aldrich microRNA Mimics for BLMH
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of BLMH 
    5 SABiosciences Assays for microRNAs that regulate BLMH:
    hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-1301 hsa-miR-29b

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: BLMH
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: BLMH
    OriGene untagged cDNA clones in CMV expression vector: BLMH
    OriGene 3'-UTR clone: BLMH 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: BLMH 
    Sino Biological Human cDNA Clone for BLMH

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for BLMH 

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

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177 aminopeptidase activity TAS9546396
    GO:0004180 carboxypeptidase activity TAS9546396
    GO:0004197 cysteine-type endopeptidase activity IEA--
    GO:0005515 protein binding IPI11350084
    GO:0008233 peptidase activity IEA--
    About this table

    BLMH for ontologies           About GeneDecksing

    Animal Models: 9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Blmh):

    behavior/neurologicalcardiovascular systemgrowth/sizehomeostasis/metabolismimmune system
    lethality-prenatal/perinatallife span-post-weaning/aginglimbs/digits/tailskin/coat/nails

    BLMH for phenotypes           About GeneDecksing


    (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
        Lysine Degradation

        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 STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP05067-41EBI-718504,EBI-302641
    BLMHQ138672MINT-68470
    TRIOO759622MINT-64162
    --Q6FI682MINT-67000
    About this table

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IEA--
    GO:0009636 response to toxin IEA--
    GO:0042493 response to drug IEA--
    About this table

    BLMH for ontologies           About GeneDecksing



    (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 Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BLMH
    5 Novoseek chemical compound relationships for BLMH gene
    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)
    About this table



    (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

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for BLMH
    Sigma-Aldrich shRNA for BLMH
    OriGene 29mer shRNA kits in GFP-retroviral vector: BLMH
    OriGene shRNA RFP: BLMH
    OriGene basic RS shRNA: BLMH
    OriGene siRNA: BLMH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of BLMH 
    miRNA: Sigma-Aldrich microRNA Mimics for BLMH
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of BLMH 
    5 SABiosciences Assays for microRNAs that regulate BLMH:
    hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-1301 hsa-miR-29b
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: BLMH
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: BLMH
    OriGene untagged cDNA clones in CMV expression vector: BLMH
    OriGene 3'-UTR Clone: BLMH 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: BLMH 
    Primers: OriGene genome-wide validated SYBR primer pairs: BLMH
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for BLMH: PPH01544A

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

    ExUns: 12b ^ 13 ^ 14a · 14b
    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)

    (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
    BLMH gene expression
    BLMH gene electronic northern expression
    BLMH gene sage expression
    About these images

    CGAP SAGE TAG: GTCTCAGTCA

    SOURCE GeneReport for Unigene cluster: Hs.371914

    Expression variation in blood from EXPOLDB for BLMH

    Primers: OriGene genome-wide validated SYBR primer pairs: BLMH
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for BLMH: PPH01544A
        SABiosciences Expression via Pathway-Focused PCR Array including BLMH: PAHS-004A 


    (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)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BLMH1   -- bleomycin hydrolase 93.7(n)
    95.16(a)
    480635  XM_537755.2  XP_537755.2 
    chimpanzee
    (Pan troglodytes)
    BLMH1   -- bleomycin hydrolase 99.83(n)
    100(a)
    454555  XM_511383.2  XP_511383.2 
    cow
    (Bos taurus)
    BLMH1   -- bleomycin hydrolase 92.77(n)
    93.81(a)
    504483  XM_580618.3  XP_580618.3 
    rat
    (Rattus norvegicus)
    Blmh1   -- bleomycin hydrolase 90.92(n)
    93.63(a)
    287552  NM_001034163.1  NP_001029335.1 
    mouse
    (Mus musculus)
    Blmh1 , 5 11 (46.18 cM)5
    bleomycin hydrolase1, 5 91.14(n)1
    93.19(a)1
    1041841  NM_178645.21  NP_848760.11 
     AA1035065  AI0357285  (see all 31)
    About this table        Species with no ortholog for BLMH

    ENSEMBL Gene Tree for BLMH (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (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

    10/341 NCBI SNPs in BLMH are shown (see all 341)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs10505621,2
    --28599837(-) GTTGGA/TGGGAG 2 G ref1 syn1 ese3 trp31Minor allele frequency- T:0.00MN 184
    rs10505651,2
    C,F,28576076(-) CCATTA/GTCCTG 2 I V ref1 mis1 ese316Minor allele frequency- N:0.00EA MN NA NS WA 2562
    rs15524721,2
    C,F,A,28581020(-) CTCTTC/GTGTTT 1 -- int111Minor allele frequency- G:0.17EA NA NS WA 694
    rs15524731,2
    C,28580960(-) TTTTCC/TCTTTA 1 -- int1 trp35Minor allele frequency- T:0.00MN NS EA WA 530
    rs21297851,2
    C,F,O,28590530(-) TACCAA/GCCTGG 1 -- int19Minor allele frequency- G:0.06NS EA NA 636
    rs31033001,2
    --28618368(+) CTGGGC/GGACGG 2 P A ref1 mis10--------
    rs31033011,2
    --28618369(+) TGGGCC/GACGGC 2 V syn1 ref10--------
    rs31033081,2
    C,F,28612107(+) TGACTA/GTGTCT 1 -- int14Minor allele frequency- G:0.14NA 78
    rs31100981,2
    C,F,A,H,28607211(+) TCTTCC/TGCTTA 1 -- int113Minor allele frequency- T:0.17NS EA NA WA 596
    rs31908841,2
    C,F,28575905(-) GTCTCC/TACCAG 1 -- ut31 ese311Minor allele frequency- T:0.02MN NS EA NA WA 1082
    About this table

    HapMap 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 

    (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

    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)
    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

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (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)
    1. 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)
    2. 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)
    3. 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)
    4. Human bleomycin hydrolase: molecular cloning, sequencing, functional expression, and enzymatic characterization. (PubMed id 8639621)1, 2, 7 Broemme D.... Payan D.G. (1996)
    5. Gene characterization, promoter analysis, and chromosomal localization of human bleomycin hydrolase. (PubMed id 9407121)1, 3, 7 Ferrando A.A....Lopez-Otin C. (1997)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity. (PubMed id 12082022)1, 4 Tuimala J....Norppa H. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    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 XenneX, Inc.)
    About This Section
    Patent Information for BLMH gene:
    Search GeneIP for patents involving BLMH

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