KCNA1

GENERAL INFORMATION

? »

Gene name

KCNA1

Gene description

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

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

RNA data suggests expression in cerebral cortex. RNA-based expert annotation gave inconclusive results.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining not consistent with RNA expression data. Presumed off target binding observed and disregarded. Pending retesting.

Data reliability

Uncertain based on 1 antibody.
CAB022365
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



GENE INFORMATION

? »

Gene name

KCNA1 (HGNC Symbol)

Synonyms

AEMK, HUK1, Kv1.1, MBK1, RBK1

Description

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

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]

Chromosome

12

Cytoband

p13.32

Chromosome location (bp)

4909905 - 4931361

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111262 (version 78.38)

Entrez gene

3736

UniProt

Q09470 (UniProt - Evidence at protein level)

neXtProt

NX_Q09470

Antibodypedia

KCNA1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000382545
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNA1-001 ENSP00000371985
ENST00000382545
Q09470
Show all »
Show » Show » 495 56.5 No 6