Expression of BLM in cancer - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene nameⁱ Gene name according to HGNC.	BLM
Gene descriptionⁱ Gene description according to HGNC.	Bloom syndrome, RecQ helicase-like
Protein classⁱ Protein class the gene product belongs to according to selected gene lists. List of protein classes.	Cancer-related genes Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localizationⁱ Protein localization predicted from several bioinformatic algorithms. Read more	Intracellular
Number of transcriptsⁱ Number of protein-coding transcribed from this gene as defined by Ensembl.	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryⁱ

TCGA (cancer tissue):	Mixed
HPA (cell line):	Mixed
HPA (normal tissue):	Mixed

Protein evidenceⁱ

Evidence at protein level

Protein expression
normal tissueⁱ

Nuclear expression at varying levels in most tissues.

ANTIBODY IHC RELIABILITY
Data reliability descriptionⁱ Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.	Antibody staining mainly not consistent with RNA expression data.
Reliability scoreⁱ Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data. Read more	Approved based on 1 antibody. HPA005689
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PROGNOSTIC SUMMARYⁱ Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEWⁱ

TCGA datasetⁱ
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

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RNA cancer category: Mixed

PROTEIN EXPRESSIONⁱ

STAINING SUMMARYⁱ

HPA005689

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	BLM (HGNC Symbol)
Synonyms	BS, RECQ2, RECQL3
Description	Bloom syndrome, RecQ helicase-like (HGNC Symbol)
Entrez gene summary	The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
Chromosome	15
Cytoband	q26.1
Chromosome location (bp)	90717327 - 90816165
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000197299 (version 83.38)
Entrez gene	641
UniProt	P54132 (UniProt - Evidence at protein level)
neXtProt	NX_P54132
Antibodypedia	BLM antibodies

PROTEIN BROWSERⁱ

BLM-001	BLM-002

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BLM-001 ENSP00000347232 ENST00000355112	P54132 [Direct mapping] Bloom syndrome protein Show all	Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000079 [regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000166 [nucleotide binding] GO:0000228 [nuclear chromosome] GO:0000405 [bubble DNA binding] GO:0000724 [double-strand break repair via homologous recombination] GO:0000729 [DNA double-strand break processing] GO:0000733 [DNA strand renaturation] GO:0000781 [chromosome, telomeric region] GO:0000800 [lateral element] GO:0002039 [p53 binding] GO:0003676 [nucleic acid binding] GO:0003677 [DNA binding] GO:0003697 [single-stranded DNA binding] GO:0003824 [catalytic activity] GO:0004003 [ATP-dependent DNA helicase activity] GO:0004386 [helicase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0005737 [cytoplasm] GO:0006260 [DNA replication] GO:0006281 [DNA repair] GO:0006302 [double-strand break repair] GO:0006310 [DNA recombination] GO:0006974 [cellular response to DNA damage stimulus] GO:0007095 [mitotic G2 DNA damage checkpoint] GO:0008026 [ATP-dependent helicase activity] GO:0009378 [four-way junction helicase activity] GO:0010165 [response to X-ray] GO:0016363 [nuclear matrix] GO:0016605 [PML body] GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887 [ATPase activity] GO:0016925 [protein sumoylation] GO:0031297 [replication fork processing] GO:0032508 [DNA duplex unwinding] GO:0036310 [annealing helicase activity] GO:0043140 [ATP-dependent 3'-5' DNA helicase activity] GO:0043687 [post-translational protein modification] GO:0044237 [cellular metabolic process] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045910 [negative regulation of DNA recombination] GO:0048478 [replication fork protection] GO:0051259 [protein oligomerization] GO:0051782 [negative regulation of cell division] GO:0051880 [G-quadruplex DNA binding] GO:0071479 [cellular response to ionizing radiation] GO:0072711 [cellular response to hydroxyurea] GO:0072757 [cellular response to camptothecin] Show all	1417 aa 159 kDa	No	0
BLM-002 ENSP00000454158 ENST00000560509	H0YNU5 [Direct mapping] Bloom syndrome protein Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0003676 [nucleic acid binding] GO:0003677 [DNA binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006260 [DNA replication] GO:0006281 [DNA repair] GO:0006310 [DNA recombination] GO:0008026 [ATP-dependent helicase activity] GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0043140 [ATP-dependent 3'-5' DNA helicase activity] Show all	1286 aa 144.5 kDa	No	0