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GENE AND PROTEIN SUMMARY

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Gene name

SCN1A

Description

sodium channel, voltage-gated, type I, alpha subunit

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters, Voltage-gated ion channels

Protein evidence

Medium

Entrez gene summary

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Centrosome

Additional location(s)

 

Staining summary

Staining of centrosome in A-431.

Reliability (Single)

Antibodies in assay

HPA034686
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Normal cells showed moderate to strong cytoplasmic immunoreactivity.

Tissue specificity

Staining in 77 out of 78 cell types

Reliability (Single)

Antibodies in assay

HPA034686
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 4
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 4
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 98% of the cancers

Antibodies in assay

HPA034686
 

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

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA034686

A-431 Skin Not detected

-

Weak
A-549 Lung Not detected

-

CACO-2 Colon Not detected

-

HEK 293 Embryonal kidney Not detected

-

HeLa Cervix Low

-

Hep-G2 Liver Low

-

MCF-7 Pleural effusion Not detected

-

PC-3 Bone marrow Not detected

-

RT-4 Urinary bladder Not detected

-

U-2 OS Bone Low

-

Negative
U-251 MG Brain Not detected

-

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA034686 pAb