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KCNH1 potassium voltage-gated channel subfamily H member 1 [ Homo sapiens (human) ]

Gene ID: 3756, updated on 25-Jan-2022

Summary

Official Symbol
KCNH1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily H member 1provided by HGNC
Primary source
HGNC:HGNC:6250
See related
Ensembl:ENSG00000143473 MIM:603305; AllianceGenome:HGNC:6250
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
EAG; EAG1; ZLS1; hEAG; TMBTS; h-eag; hEAG1; Kv10.1
Summary
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 4.3), adrenal (RPKM 0.4) and 3 other tissues See more
Orthologs
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Genomic context

See KCNH1 in Genome Data Viewer
Location:
1q32.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (210678314..211134148, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (210851656..211307490, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene hedgehog acyltransferase Neighboring gene Sharpr-MPRA regulatory region 9170 Neighboring gene Sharpr-MPRA regulatory region 1701 Neighboring gene uncharacterized LOC105372901 Neighboring gene importin 8 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3630 Neighboring gene KCNH1 intronic transcript 1 Neighboring gene PRELID1 pseudogene 5 Neighboring gene ribosomal protein S25 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Temple-Baraitser syndrome
MedGen: C2678486 OMIM: 611816 GeneReviews: Not available
Compare labs
Zimmermann-Laband syndrome 1
MedGen: C4551773 OMIM: 135500 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
EBI GWAS Catalog
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC142269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
NOT enables cyclic nucleotide binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
part_of voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily H member 1
Names
EAG channel 1
ether-a-go-go 1
ether-a-go-go potassium channel 1
ether-a-go-go, Drosophila, homolog of
potassium channel, voltage gated eag related subfamily H, member 1
potassium voltage-gated channel, subfamily H (eag-related), member 1
voltage-gated potassium channel subunit Kv10.1

NCBI Reference Sequences (RefSeq)

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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_029777.2 RefSeqGene

    Range
    4968..460802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002238.4NP_002229.1  potassium voltage-gated channel subfamily H member 1 isoform 2

    See identical proteins and their annotated locations for NP_002229.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as eag, lacks an alternate in-frame segment, as compared to variant 1. It encodes isoform 2, which is shorter but has the same N- and C-termini as isoform 1.
    Source sequence(s)
    AC092017, AC096636, AF078741, AJ001366
    Consensus CDS
    CCDS31015.1
    UniProtKB/Swiss-Prot
    O95259
    Related
    ENSP00000492697.1, ENST00000639952.1
    Conserved Domains (3) summary
    PLN03192
    Location:220620
    PLN03192; Voltage-dependent potassium channel; Provisional
    PRK11753
    Location:581685
    PRK11753; cAMP-activated global transcriptional regulator CRP
    pfam13426
    Location:41135
    PAS_9; PAS domain
  2. NM_172362.3NP_758872.1  potassium voltage-gated channel subfamily H member 1 isoform 1

    See identical proteins and their annotated locations for NP_758872.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as eagB, encodes the longer isoform (1).
    Source sequence(s)
    AC092017, AC096636, AF078742, AJ001366
    Consensus CDS
    CCDS1496.1
    UniProtKB/Swiss-Prot
    O95259
    Related
    ENSP00000271751.4, ENST00000271751.10
    Conserved Domains (3) summary
    PLN03192
    Location:220647
    PLN03192; Voltage-dependent potassium channel; Provisional
    PRK11753
    Location:608712
    PRK11753; cAMP-activated global transcriptional regulator CRP
    pfam13426
    Location:41135
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    210678314..211134148 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001246.1XP_016856735.1  potassium voltage-gated channel subfamily H member 1 isoform X1

    Conserved Domains (3) summary
    COG0664
    Location:183328
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:189299
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam07885
    Location:58112
    Ion_trans_2; Ion channel
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