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    BLMH bleomycin hydrolase [ Homo sapiens (human) ]

    Gene ID: 642, updated on 19-Sep-2024

    Summary

    Official Symbol
    BLMHprovided by HGNC
    Official Full Name
    bleomycin hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:1059
    See related
    Ensembl:ENSG00000108578 MIM:602403; AllianceGenome:HGNC:1059
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BH; BMH
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 54.6), placenta (RPKM 12.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See BLMH in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30248203..30291944, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31192754..31236495, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (28575221..28618962, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:28443345-28444544 Neighboring gene microRNA 3184 Neighboring gene microRNA 423 Neighboring gene nuclear speckle splicing regulatory protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28468415-28468916 Neighboring gene uncharacterized LOC124903970 Neighboring gene solute carrier family 6 member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28549461-28549976 Neighboring gene MPRA-validated peak2787 silencer Neighboring gene serotonin transporter intronic VNTR enhancer Neighboring gene solute carrier family 6 member 4 gene promoter Neighboring gene uncharacterized LOC105371720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:28565347-28566247 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:28575475-28576674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8395 Neighboring gene RNA, U6 small nuclear 1267, pseudogene Neighboring gene uncharacterized LOC124903971 Neighboring gene uncharacterized LOC105371721

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables aminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carboxypeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables cysteine-type aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in homocysteine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    bleomycin hydrolase
    Names
    BLM hydrolase
    NP_000377.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011440.1 RefSeqGene

      Range
      5113..48854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000386.4NP_000377.1  bleomycin hydrolase

      See identical proteins and their annotated locations for NP_000377.1

      Status: REVIEWED

      Source sequence(s)
      BC003616, DC346179
      Consensus CDS
      CCDS32604.1
      UniProtKB/Swiss-Prot
      B2R796, Q13867, Q53F86, Q9UER9
      Related
      ENSP00000261714.6, ENST00000261714.11
      Conserved Domains (1) summary
      pfam03051
      Location:5451
      Peptidase_C1_2; Peptidase C1-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30248203..30291944 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31192754..31236495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)