KCNQ1 potassium voltage-gated channel subfamily Q member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNQ1provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily Q member 1provided by HGNC
Primary source: HGNC:HGNC:6294
See related: Ensembl:ENSG00000053918 MIM:607542; AllianceGenome:HGNC:6294
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1
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]
Expression: Broad expression in adrenal (RPKM 44.1), thyroid (RPKM 34.9) and 16 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11p15.5-p15.4

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2445008..2849105)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2534332..2938419)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2466238..2870340)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.
Title: KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.
Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.
Title: Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.
Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
Title: Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
The role of native cysteine residues in the oligomerization of KCNQ1 channels.
Title: The role of native cysteine residues in the oligomerization of KCNQ1 channels.
KCNQ1 rs2237892 polymorphism modify the association between short-term ambient particulate matter exposure and fasting blood glucose: A family-based study.
Title: KCNQ1 rs2237892 polymorphism modify the association between short-term ambient particulate matter exposure and fasting blood glucose: A family-based study.
Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers.
Title: Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers.
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Title: Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
Title: Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.
Title: To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.
Purification and membrane interactions of human KCNQ1100-370 potassium ion channel.
Title: Purification and membrane interactions of human KCNQ1(100-370) potassium ion channel.

Submit: New GeneRIF Correction See all GeneRIFs (485)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in KCNQ1 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Atrial fibrillation, familial, 3 MedGen: C1837014 OMIM: 607554 GeneReviews: Not available	Compare labs
Beckwith-Wiedemann syndrome MedGen: C0004903 OMIM: 130650 GeneReviews: Wilms Tumor Predisposition, Beckwith-Wiedemann Syndrome	Compare labs
Jervell and Lange-Nielsen syndrome 1 MedGen: C4551509 OMIM: 220400 GeneReviews: Jervell and Lange-Nielsen Syndrome	Compare labs
Long QT syndrome MedGen: C0023976 GeneReviews: Long QT Syndrome Overview	Compare labs
Long QT syndrome 1 MedGen: C4551647 OMIM: 192500 GeneReviews: Long QT Syndrome Overview	Compare labs
Short QT syndrome type 2 MedGen: C1865019 OMIM: 609621 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-10-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-13) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci influence QT interval duration in the QTGEN Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Impact of ancestry and common genetic variants on QT interval in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. EBI GWAS Catalog EBI GWAS CatalogPubMed
Several common variants modulate heart rate, PR interval and QRS duration. EBI GWAS Catalog EBI GWAS CatalogPubMed
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11S4088 (e-PCR)
- UniSTS:54059

Kcnq1 (e-PCR), detects polymorphism
- UniSTS:143678

G17603 (e-PCR)
- UniSTS:47935

SHGC-152334 (e-PCR)
- UniSTS:177477

WI-16373 (e-PCR)
- UniSTS:60998

RH18059 (e-PCR)
- UniSTS:26445

RH94222 (e-PCR)
- UniSTS:87913

RH98704 (e-PCR)
- UniSTS:84368

RH48362 (e-PCR)
- UniSTS:86181

SHGC-144501 (e-PCR)
- UniSTS:174256

KCNQ1_348 (e-PCR)
- UniSTS:277434

KCNA8 (e-PCR)
- UniSTS:15297

SHGC-78732 (e-PCR)
- UniSTS:100802

PMC21842P1 (e-PCR)
- UniSTS:272071

PMC21842P2 (e-PCR)
- UniSTS:272072

SHGC-84145 (e-PCR)
- UniSTS:104665

PMC22188P1 (e-PCR)
- UniSTS:272101

D11S3313 (e-PCR)
- UniSTS:152555

D11S3319 (e-PCR)
- UniSTS:152561

RH17571 (e-PCR)
- UniSTS:72179

Kcnq1 (e-PCR), detects polymorphism
- UniSTS:265461

PMC19930P1 (e-PCR)
- UniSTS:271862

D11S3328 (e-PCR)
- UniSTS:152570

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables outward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables outward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A catalytic subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase A regulatory subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables protein phosphatase 1 binding	IDA Inferred from Direct Assay more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in adrenergic receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in auditory receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cAMP	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to epinephrine stimulus	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in corticosterone secretion	IEA Inferred from Electronic Annotation more info
involved_in detection of mechanical stimulus involved in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in gastrin-induced gastric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in inner ear development	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in intestinal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular chloride ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in iodide transport	IEA Inferred from Electronic Annotation more info
involved_in membrane repolarization during action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane repolarization during atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during cardiac muscle cell action potential	TAS Traceable Author Statement more info	PubMed
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in potassium ion import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of atrial cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of gastric acid secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of heart contraction	IC Inferred by Curator more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal sodium ion absorption	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in rhythmic behavior	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed
involved_in social behavior	IEA Inferred from Electronic Annotation more info
involved_in stomach development	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral part of cell	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with early endosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with endoplasmic reticulum	IPI Inferred from Physical Interaction more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in lumenal side of membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
part_of monoatomic ion channel complex	IPI Inferred from Physical Interaction more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in transport vesicle	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IC Inferred by Curator more info	PubMed
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: potassium voltage-gated channel subfamily KQT member 1

Names: IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; kidney and cardiac voltage dependend K+ channel; potassium channel, voltage gated KQT-like subfamily Q, member 1; potassium voltage-gated channel, KQT-like subfamily, member 1; slow delayed rectifier channel subunit; voltage-gated potassium channel subunit Kv7.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008935.1 RefSeqGene

Range

5001..409120

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_287

mRNA and Protein(s)

NM_000218.3 → NP_000209.2 potassium voltage-gated channel subfamily KQT member 1 isoform 1

See identical proteins and their annotated locations for NP_000209.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AF000571, AI439544, AI473902, BC017074

Consensus CDS

CCDS7736.1

UniProtKB/Swiss-Prot

O00347, O60607, O94787, P51787, Q14D14, Q7Z6G9, Q92960, Q9UMN8, Q9UMN9

UniProtKB/TrEMBL

E9PPZ0

Related

ENSP00000155840.2, ENST00000155840.12

Conserved Domains (3) summary

pfam00520
Location:153 → 359

Ion_trans; Ion transport protein

pfam03520
Location:511 → 617

KCNQ_channel; KCNQ voltage-gated potassium channel

pfam07885
Location:270 → 349

Ion_trans_2; Ion channel
NM_001406836.1 → NP_001393765.1 potassium voltage-gated channel subfamily KQT member 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC013791, AC021424, AC124055, AC124057

Related

ENSP00000434560.2, ENST00000496887.7
NM_001406837.1 → NP_001393766.1 potassium voltage-gated channel subfamily KQT member 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC013791, AC021424, AC124055, AC124057
NM_001406838.1 → NP_001393767.1 potassium voltage-gated channel subfamily KQT member 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC013791, AC021424, AC124055, AC124057

Related

ENSP00000495806.2, ENST00000646564.2
NM_001406839.1 → NP_001393768.1 potassium voltage-gated channel subfamily KQT member 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC013791

Related

ENSP00000494939.1, ENST00000526095.2
NM_181798.2 → NP_861463.1 potassium voltage-gated channel subfamily KQT member 1 isoform 2

See identical proteins and their annotated locations for NP_861463.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an alternate start site compared to variant 1. The resulting shorter isoform (2) has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC013791, AC021424, AC124055, AC124057

UniProtKB/TrEMBL

E9PPZ0

Related

ENSP00000334497.5, ENST00000335475.6

Conserved Domains (2) summary

pfam00520
Location:2 → 232

Ion_trans; Ion transport protein

pfam03520
Location:384 → 490

KCNQ_channel; KCNQ voltage-gated potassium channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

2445008..2849105

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

1031..81270

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

2534332..2938419

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_181797.1: Suppressed sequence

Description

NM_181797.1: This RefSeq was permanently suppressed because it contains the wrong N-terminal CDS sequence and has an inferred exon combination.