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GENE AND PROTEIN SUMMARY

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Gene name

BLM

Description

Bloom syndrome, RecQ helicase-like

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potential transmembrane proteins

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus, Cytoplasm

Additional location(s)

 

Staining summary

Staining of nucleus and cytoplasm in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA005689
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Strong nuclear staining was observed in the majority of normal tissues. Weak cytoplasmic staining was observed in a few cases. Hepatocytes in liver were negative.

Tissue specificity

Staining in 72 out of 74 cell types

Reliability (Single)

Antibodies in assay

HPA005689
 

Organ

No of cell types

Antibody staining

CNS (brain) 10
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 11
Placenta 2
Male tissues 4
Urinary tract (kidney) 3
Skin and soft tissues 10
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 94% of the cancers

Antibodies in assay

HPA005689
 

Tissue

Cancer staining

Normal tissue
staining

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

Tissue

Cancer staining

Normal tissue
staining

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

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA005689

HPA005689

A-431 Skin Medium
Moderate
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney High
HeLa Cervix Medium
Hep-G2 Liver Medium
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Low
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
Moderate
U-251 MG Brain Medium
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA005689 pAb