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KCNA1

GENERAL INFORMATION

Gene name

 KCNA1

Gene description

 Potassium channel, voltage gated shaker related subfamily A, member 1

Protein class

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

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (cerebral cortex)
GTEx:Tissue enhanced (cerebellum)
FANTOM5:Group enriched (cerebellum, caudate, brain, hippocampus)

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending retesting. Antibody staining not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
CAB022365
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
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
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
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
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cerebellum, caudate, brain, hippocampus)

GENE INFORMATION

Gene name

 KCNA1 (HGNC Symbol)

Synonyms

 AEMK, HUK1, Kv1.1, MBK1, RBK1

Description

 Potassium channel, voltage gated shaker related subfamily A, member 1 (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 83.38)

Entrez gene

 3736

UniProt

 Q09470 (UniProt - Evidence at protein level)

neXtProt

 NX_Q09470

Antibodypedia

 KCNA1 antibodies

PROTEIN BROWSER
KCNA1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
KCNA1-001
ENSP00000371985
ENST00000382545
Q09470 [Direct mapping]
Potassium voltage-gated channel subfamily A member 1
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Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0001964 [startle response]
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0006937 [regulation of muscle contraction]
GO:0007268 [synaptic transmission]
GO:0007405 [neuroblast proliferation]
GO:0007420 [brain development]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009986 [cell surface]
GO:0010644 [cell communication by electrical coupling]
GO:0010960 [magnesium ion homeostasis]
GO:0015079 [potassium ion transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0016324 [apical plasma membrane]
GO:0019228 [neuronal action potential]
GO:0021766 [hippocampus development]
GO:0023041 [neuronal signal transduction]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0033270 [paranode region of axon]
GO:0034613 [cellular protein localization]
GO:0034705 [potassium channel complex]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042391 [regulation of membrane potential]
GO:0042734 [presynaptic membrane]
GO:0043025 [neuronal cell body]
GO:0043204 [perikaryon]
GO:0043679 [axon terminus]
GO:0044224 [juxtaparanode region of axon]
GO:0045202 [synapse]
GO:0050905 [neuromuscular process]
GO:0050966 [detection of mechanical stimulus involved in sensory perception of pain]
GO:0050976 [detection of mechanical stimulus involved in sensory perception of touch]
GO:0051260 [protein homooligomerization]
GO:0055085 [transmembrane transport]
GO:0071286 [cellular response to magnesium ion]
GO:0071805 [potassium ion transmembrane transport]
Show all
 495 aa
56.5 kDa 		No 6

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.