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

    Gene ID: 3756, updated on 8-Jul-2021

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNH1 in Genome Data Viewer
    Location:
    1q32.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 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 BPNT2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 1701 Neighboring gene uncharacterized LOC105372901 Neighboring gene importin 8 pseudogene 1 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
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    GeneReviews: Not available
    Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
    GeneReviews: Not available
    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

    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 14-3-3 protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface 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 integral component of presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 perinuclear region of cytoplasm 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
     
    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)

    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_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 109.20210514

    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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