KCNQ1

GENERAL INFORMATION

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Gene name

KCNQ1

Gene description

Potassium voltage-gated channel, KQT-like subfamily, 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

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RNA tissue category

HPA:Tissue enhanced (adrenal gland, thyroid gland)
GTEx:Tissue enhanced (adrenal gland, stomach)

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Supportive based on 2 antibodies.
HPA048553 , CAB018656
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Thyroid gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (adrenal gland, thyroid gland)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (adrenal gland, stomach)

Organ

Expression



GENE INFORMATION

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Gene name

KCNQ1 (HGNC Symbol)

Synonyms

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

Description

Potassium voltage-gated channel, KQT-like subfamily, 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 78.38)

Entrez gene

3784

UniProt

P51787 (UniProt - Evidence at protein level)

neXtProt

NX_P51787

Antibodypedia

KCNQ1 antibodies


PROTEIN BROWSER

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ENST00000155840
 
ENST00000335475
 
ENST00000380776
 
ENST00000496887
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNQ1-001 ENSP00000155840
ENST00000155840
P51787
Show all »
Show » Show » 676 74.7 No 6
KCNQ1-002 ENSP00000334497
ENST00000335475
P51787
Show all »
Show » Show » 549 61.5 Yes 5
KCNQ1-005 ENSP00000434560
ENST00000496887
E9PPZ0
Show all »
Show » Show » 193 21.9 No 4
KCNQ1-006 ENSP00000370153
ENST00000380776
F8W824
Show all »
Show » 74 7.9 No 1