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GENE AND PROTEIN SUMMARY

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Gene name

USB1

Description

U6 snRNA biogenesis 1

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Plasma membrane, Cytoplasm

Additional location(s)

 

Staining summary

Staining of cytoplasm and plasma membrane in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA041791
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Moderate cytoplasmic and membranous positivity was observed in intestinal glands, thyroid gland, adrenal cortex and renal glomeruli. Neuropil, basal cells in skin, fractions of neuronal cells and smooth muscle cells displayed moderate staining. Remaining normal tissues were weakly stained or negative.

Tissue specificity

Staining in 36 out of 81 cell types

Reliability (Single)

Antibodies in assay

HPA041791
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 7
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 10% of the cancers

Antibodies in assay

HPA041791
 

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

 

HPA041791

A-431 Skin High

-

Strong
A-549 Lung High

-

CACO-2 Colon High

-

HEK 293 Embryonal kidney High

-

HeLa Cervix High

-

Hep-G2 Liver High

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow High

-

RT-4 Urinary bladder High

-

U-2 OS Bone High

-

Strong
U-251 MG Brain High

-

Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA041791 pAb