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BLMH (bleomycin hydrolase)

Identity

Alias_symbol (synonym)BH
Other aliasBMH
HGNC (Hugo) BLMH
LocusID (NCBI) 642
Atlas_Id 803
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 30248195 and ends at 30292166 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BLMH (17q11.2) / SLC2A1 (1p34.2)CCDC117 (22q12.1) / BLMH (17q11.2)DENND4B (1q21.3) / BLMH (17q11.2)
SPAG5 (17q11.2) / BLMH (17q11.2)TMEM97 (17q11.2) / BLMH (17q11.2)SPAG5 17q11.2 / BLMH 17q11.2
TMEM97 17q11.2 / BLMH 17q11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BLMH   1059
Cards
Entrez_Gene (NCBI)BLMH  642  bleomycin hydrolase
AliasesBH; BMH
GeneCards (Weizmann)BLMH
Ensembl hg19 (Hinxton)ENSG00000108578 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108578 [Gene_View]  chr17:30248195-30292166 [Contig_View]  BLMH [Vega]
ICGC DataPortalENSG00000108578
TCGA cBioPortalBLMH
AceView (NCBI)BLMH
Genatlas (Paris)BLMH
WikiGenes642
SOURCE (Princeton)BLMH
Genetics Home Reference (NIH)BLMH
Genomic and cartography
GoldenPath hg38 (UCSC)BLMH  -     chr17:30248195-30292166 -  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLMH  -     17q11.2   [Description]    (hg19-Feb_2009)
EnsemblBLMH - 17q11.2 [CytoView hg19]  BLMH - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBIBLMH [Mapview hg19]  BLMH [Mapview hg38]
OMIM104300   602403   
Gene and transcription
Genbank (Entrez)AF091082 AI283058 AK057600 AK223403 AK301948
RefSeq transcript (Entrez)NM_000386
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BLMH
Cluster EST : UnigeneHs.371914 [ NCBI ]
CGAP (NCI)Hs.371914
Alternative Splicing GalleryENSG00000108578
Gene ExpressionBLMH [ NCBI-GEO ]   BLMH [ EBI - ARRAY_EXPRESS ]   BLMH [ SEEK ]   BLMH [ MEM ]
Gene Expression Viewer (FireBrowse)BLMH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)642
GTEX Portal (Tissue expression)BLMH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13867   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13867  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13867
Splice isoforms : SwissVarQ13867
PhosPhoSitePlusQ13867
Domaine pattern : Prosite (Expaxy)THIOL_PROTEASE_CYS (PS00139)   
Domains : Interpro (EBI)Pept_cys_AS    Peptidase_C1B   
Domain families : Pfam (Sanger)Peptidase_C1_2 (PF03051)   
Domain families : Pfam (NCBI)pfam03051   
Conserved Domain (NCBI)BLMH
DMDM Disease mutations642
Blocks (Seattle)BLMH
PDB (SRS)1CB5    2CB5   
PDB (PDBSum)1CB5    2CB5   
PDB (IMB)1CB5    2CB5   
PDB (RSDB)1CB5    2CB5   
Structural Biology KnowledgeBase1CB5    2CB5   
SCOP (Structural Classification of Proteins)1CB5    2CB5   
CATH (Classification of proteins structures)1CB5    2CB5   
SuperfamilyQ13867
Human Protein AtlasENSG00000108578
Peptide AtlasQ13867
HPRD03870
IPIIPI00219575   IPI00794082   
Protein Interaction databases
DIP (DOE-UCLA)Q13867
IntAct (EBI)Q13867
FunCoupENSG00000108578
BioGRIDBLMH
STRING (EMBL)BLMH
ZODIACBLMH
Ontologies - Pathways
QuickGOQ13867
Ontology : AmiGOprotein polyubiquitination  aminopeptidase activity  carboxypeptidase activity  cysteine-type endopeptidase activity  protein binding  nucleus  cytoplasm  cytosol  proteolysis  cysteine-type peptidase activity  response to toxic substance  response to drug  identical protein binding  homocysteine catabolic process  extracellular exosome  
Ontology : EGO-EBIprotein polyubiquitination  aminopeptidase activity  carboxypeptidase activity  cysteine-type endopeptidase activity  protein binding  nucleus  cytoplasm  cytosol  proteolysis  cysteine-type peptidase activity  response to toxic substance  response to drug  identical protein binding  homocysteine catabolic process  extracellular exosome  
NDEx NetworkBLMH
Atlas of Cancer Signalling NetworkBLMH
Wikipedia pathwaysBLMH
Orthology - Evolution
OrthoDB642
GeneTree (enSembl)ENSG00000108578
Phylogenetic Trees/Animal Genes : TreeFamBLMH
HOVERGENQ13867
HOGENOMQ13867
Homologs : HomoloGeneBLMH
Homology/Alignments : Family Browser (UCSC)BLMH
Gene fusions - Rearrangements
Fusion : MitelmanSPAG5/BLMH [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion : MitelmanTMEM97/BLMH [17q11.2/17q11.2]  [t(17;17)(q11;q11)]  
Fusion: TCGASPAG5 17q11.2 BLMH 17q11.2 BRCA
Fusion: TCGATMEM97 17q11.2 BLMH 17q11.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLMH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLMH
dbVarBLMH
ClinVarBLMH
1000_GenomesBLMH 
Exome Variant ServerBLMH
ExAC (Exome Aggregation Consortium)BLMH (select the gene name)
Genetic variants : HAPMAP642
Genomic Variants (DGV)BLMH [DGVbeta]
DECIPHERBLMH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBLMH 
Mutations
ICGC Data PortalBLMH 
TCGA Data PortalBLMH 
Broad Tumor PortalBLMH
OASIS PortalBLMH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBLMH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBLMH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BLMH
DgiDB (Drug Gene Interaction Database)BLMH
DoCM (Curated mutations)BLMH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLMH (select a term)
intoGenBLMH
Cancer3DBLMH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104300    602403   
Orphanet22368   
MedgenBLMH
Genetic Testing Registry BLMH
NextProtQ13867 [Medical]
TSGene642
GENETestsBLMH
Target ValidationBLMH
Huge Navigator BLMH [HugePedia]
snp3D : Map Gene to Disease642
BioCentury BCIQBLMH
ClinGenBLMH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD642
Chemical/Pharm GKB GenePA25370
Clinical trialBLMH
Miscellaneous
canSAR (ICR)BLMH (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLMH
EVEXBLMH
GoPubMedBLMH
iHOPBLMH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:25:35 CEST 2017

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