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KCNQ1

GENERAL INFORMATION

Gene name

 KCNQ1

Gene description

 Potassium channel, voltage gated KQT-like subfamily Q, member 1

Protein class

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

Predicted localization

 Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (adrenal gland, thyroid gland)
GTEx:Tissue enhanced (adrenal gland)
FANTOM5:Tissue enhanced (seminal vesicle)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and membranous expression mainly in adrenal gland, thyroid gland and stomach.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending retesting.

Reliability score

 Supported based on 2 antibodies.
HPA048553 , CAB018656
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland, thyroid gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (seminal vesicle)

GENE INFORMATION

Gene name

 KCNQ1 (HGNC Symbol)

Synonyms

 JLNS1, KCNA8, KCNA9, Kv7.1, KVLQT1, LQT, LQT1

Description

 Potassium channel, voltage gated KQT-like subfamily Q, member 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

Chromosome

 11

Cytoband

Chromosome location (bp)

 2444684 - 2849109

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000053918 (version 83.38)

Entrez gene

 3784

UniProt

 P51787 (UniProt - Evidence at protein level)

neXtProt

 NX_P51787

Antibodypedia

 KCNQ1 antibodies

PROTEIN BROWSER
KCNQ1-001
KCNQ1-002
KCNQ1-005
KCNQ1-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
KCNQ1-001
ENSP00000155840
ENST00000155840
P51787 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 1
Show all
Transporters
   Transporter channels and pores
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
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002230 [positive regulation of defense response to virus by host]
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0006349 [regulation of gene expression by genetic imprinting]
GO:0006811 [ion transport]
GO:0007268 [synaptic transmission]
GO:0007605 [sensory perception of sound]
GO:0008016 [regulation of heart contraction]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008157 [protein phosphatase 1 binding]
GO:0010460 [positive regulation of heart rate]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016323 [basolateral plasma membrane]
GO:0016458 [gene silencing]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0034236 [protein kinase A catalytic subunit binding]
GO:0034237 [protein kinase A regulatory subunit binding]
GO:0035690 [cellular response to drug]
GO:0044325 [ion channel binding]
GO:0055085 [transmembrane transport]
GO:0060048 [cardiac muscle contraction]
GO:0060306 [regulation of membrane repolarization]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0060452 [positive regulation of cardiac muscle contraction]
GO:0071320 [cellular response to cAMP]
GO:0071435 [potassium ion export]
GO:0071805 [potassium ion transmembrane transport]
GO:0071872 [cellular response to epinephrine stimulus]
GO:0072358 [cardiovascular system development]
GO:0086005 [ventricular cardiac muscle cell action potential]
GO:0086008 [voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization]
GO:0086011 [membrane repolarization during action potential]
GO:0086013 [membrane repolarization during cardiac muscle cell action potential]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086089 [voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0097110 [scaffold protein binding]
GO:0097623 [potassium ion export across plasma membrane]
GO:1901381 [positive regulation of potassium ion transmembrane transport]
GO:1902282 [voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization]
Show all
 676 aa
74.7 kDa 		No 6
KCNQ1-002
ENSP00000334497
ENST00000335475
P51787 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 1
Show all
Transporters
   Transporter channels and pores
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
   5TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002230 [positive regulation of defense response to virus by host]
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005764 [lysosome]
GO:0005769 [early endosome]
GO:0005770 [late endosome]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0007268 [synaptic transmission]
GO:0007605 [sensory perception of sound]
GO:0008016 [regulation of heart contraction]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008157 [protein phosphatase 1 binding]
GO:0010460 [positive regulation of heart rate]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016323 [basolateral plasma membrane]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0034236 [protein kinase A catalytic subunit binding]
GO:0034237 [protein kinase A regulatory subunit binding]
GO:0035690 [cellular response to drug]
GO:0044325 [ion channel binding]
GO:0055085 [transmembrane transport]
GO:0060048 [cardiac muscle contraction]
GO:0060306 [regulation of membrane repolarization]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0060452 [positive regulation of cardiac muscle contraction]
GO:0071320 [cellular response to cAMP]
GO:0071435 [potassium ion export]
GO:0071805 [potassium ion transmembrane transport]
GO:0071872 [cellular response to epinephrine stimulus]
GO:0086005 [ventricular cardiac muscle cell action potential]
GO:0086008 [voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization]
GO:0086011 [membrane repolarization during action potential]
GO:0086013 [membrane repolarization during cardiac muscle cell action potential]
GO:0086014 [atrial cardiac muscle cell action potential]
GO:0086089 [voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0097110 [scaffold protein binding]
GO:0097623 [potassium ion export across plasma membrane]
GO:1901381 [positive regulation of potassium ion transmembrane transport]
GO:1902282 [voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization]
Show all
 549 aa
61.5 kDa 		Yes 5
KCNQ1-005
ENSP00000434560
ENST00000496887
E9PPZ0 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 1
Show all
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
   4TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0006811 [ion transport]
GO:0008076 [voltage-gated potassium channel complex]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 193 aa
21.9 kDa 		No 4
KCNQ1-006
ENSP00000370153
ENST00000380776
F8W824 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 1
Show all
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
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016021 [integral component of membrane]
Show all
 74 aa
7.9 kDa 		No 1

Contact

The Project

The Human Protein Atlas

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