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GENE AND PROTEIN SUMMARY

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Gene name

KCNA1

Description

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)

Protein class

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

Protein evidence

Medium

Entrez gene summary

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Show image »

Staining summary

Most normal cells showed moderate cytoplasmic positivity. Strong staining was observed in Purkinje cells. Glial cells, most lymphoid and muscle cells were weakly stained or negative.

Tissue specificity

Staining in 70 out of 79 cell types

Reliability (Single)

Antibodies in assay

CAB022365
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
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 13
Endocrine tissues 2

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 71% of the cancers

Antibodies in assay

CAB022365
 

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

A-431 Skin Not detected

-

-

A-549 Lung Not detected

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Not detected

-

-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Not detected

-

-

MCF-7 Pleural effusion Not detected

-

-

PC-3 Bone marrow Not detected

-

-

RT-4 Urinary bladder Not detected

-

-

U-2 OS Bone Low

-

-

U-251 MG Brain Not detected

-

-

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB022365 msAb