Format

Send to:

Choose Destination

BLMH bleomycin hydrolase [ Homo sapiens (human) ]

Gene ID: 642, updated on 6-May-2021

Summary

Official Symbol
BLMHprovided by HGNC
Official Full Name
bleomycin hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:1059
See related
Ensembl:ENSG00000108578 MIM:602403
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BLMH in Genome Data Viewer
Location:
17q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (30248203..30291944, complement)
105.20201022 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 solute carrier family 6 member 4 Neighboring gene serotonin transporter intronic VNTR enhancer Neighboring gene solute carrier family 6 member 4 gene promoter Neighboring gene uncharacterized LOC105371720 Neighboring gene RNA, U6 small nuclear 1267, pseudogene Neighboring gene uncharacterized LOC105371721 Neighboring gene transmembrane and immunoglobulin domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
enables carboxypeptidase activity TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 
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
PubMed 
involved_in protein polyubiquitination TAS
Traceable Author Statement
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in response to drug IEA
Inferred from Electronic Annotation
more info
 
involved_in response to toxic substance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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)

NEW Try the new Transcript table

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
    Q13867
    Related
    ENSP00000261714.6, ENST00000261714.11
    Conserved Domains (1) summary
    pfam03051
    Location:5451
    Peptidase_C1_2; Peptidase C1-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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