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

Gene ID: 3784, updated on 24-Sep-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See KCNQ1 in Genome Data Viewer
Location:
11p15.5-p15.4
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2445008..2849105)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2534332..2938419)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2466238..2870335)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2421638-2422140 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2422141-2422641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2435338-2435838 Neighboring gene Sharpr-MPRA regulatory region 9407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3069 Neighboring gene tumor suppressing subtransferable candidate 4 Neighboring gene transient receptor potential cation channel subfamily M member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2482166-2482666 Neighboring gene Sharpr-MPRA regulatory region 11059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4304 Neighboring gene uncharacterized LOC124902613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2540941-2541442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2541443-2541942 Neighboring gene MPRA-validated peak1163 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4305 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2554792-2554952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:2556786-2557286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2582101-2582884 Neighboring gene Sharpr-MPRA regulatory region 10946 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2590869-2591089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2600763-2601368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4306 Neighboring gene KCNQ1 opposite strand/antisense transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2706658-2707620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2709545-2710505 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2714101-2714968 Neighboring gene nonconserved acetylation island sequence 52 enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2729441-2729611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2735134-2735776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2739659-2740558 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:2741460-2742359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2744161-2745061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2745062-2745961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2746137-2747132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2755915-2756416 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2759896-2760754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2762325-2762961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2791793-2792456 Neighboring gene uncharacterized LOC124902614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2818029-2818530 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2821032-2821969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2826269-2826768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2832501-2833263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2833264-2834027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2848795-2849695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2856199-2857066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2857067-2857933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2878979-2879960 Neighboring gene KCNQ1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2884189-2884886 Neighboring gene CRISPRi-validated cis-regulatory element chr11.592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2890154-2890662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2904223-2904722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2905995-2906830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2906831-2907666 Neighboring gene KCNQ1 downstream neighbor Neighboring gene cyclin dependent kinase inhibitor 1C

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ26167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 cell contraction NAS
Non-traceable Author Statement
more info
PubMed 
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 NAS
Non-traceable Author Statement
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 negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of voltage-gated potassium channel activity IDA
Inferred from Direct Assay
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 potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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

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)

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

  1. NG_008935.1 RefSeqGene

    Range
    5001..409120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_287

mRNA and Protein(s)

  1. 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
  2. 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
    UniProtKB/TrEMBL
    E9PPZ0
    Related
    ENSP00000434560.2, ENST00000496887.7
  3. 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
    UniProtKB/TrEMBL
    E9PPZ0
  4. 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
    UniProtKB/TrEMBL
    A0A2R8YEQ9
    Related
    ENSP00000495806.2, ENST00000646564.2
  5. NM_001406839.1 → NP_001393768.1  potassium voltage-gated channel subfamily KQT member 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC013791
    UniProtKB/TrEMBL
    A0A2R8YDV1
    Related
    ENSP00000494939.1, ENST00000526095.2
  6. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. 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

  1. NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    1031..81270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. 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

  1. 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.