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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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BLM
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PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

GENERAL INFORMATION

Gene name

BLM

Gene description

Bloom syndrome, RecQ helicase-like

Protein class

Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category

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

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Nuclear expression at varying levels in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Reliability score

Approved based on 1 antibody.
HPA005689
SHOW MORE

PROGNOSTIC SUMMARY

Gene product is not prognostic.
Show all

RNA EXPRESSION OVERVIEW

TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION

Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY

HPA005689

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Cancer cells displayed moderate to strong nuclear immunoreactivity. Most hepatocellular carcinomas were negative. Several cases of testicular cancer were weakly stained or negative.

GENE INFORMATION

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 BROWSER

BLM-001
BLM-002

PROTEIN INFORMATION

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

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