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

Gene ID: 3756, updated on 2-Oct-2018

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; Vega:OTTHUMG00000036309
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; 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

Genomic context

See KCNH1 in Genome Data Viewer
Location:
1q32.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (210678314..211134115, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (210851657..211307457, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U5A small nuclear 8, pseudogene Neighboring gene hedgehog acyltransferase Neighboring gene inositol monophosphatase domain containing 1 pseudogene Neighboring gene uncharacterized LOC105372901 Neighboring gene importin 8 pseudogene 1 Neighboring gene KCNH1 intronic transcript 1 Neighboring gene PRELI domain containing 1 pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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: CN032818 OMIM: 135500 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

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
14-3-3 protein binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
NOT cyclic nucleotide binding ISS
Inferred from Sequence or Structural Similarity
more info
 
delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphorelay sensor kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
myoblast fusion TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphorelay signal transduction system IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction by protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
startle response IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axolemma IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
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 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)

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_029777.1 RefSeqGene

    Range
    5001..460801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002238.3NP_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)
    AC096636, AF078741, AJ001366
    Consensus CDS
    CCDS31015.1
    UniProtKB/Swiss-Prot
    O95259
    Related
    ENSP00000492697.1, OTTHUMP00000034569, ENST00000639952.1, OTTHUMT00000088568
    Conserved Domains (6) summary
    COG0664
    Location:548693
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:554664
    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 ...
    cd00130
    Location:39133
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:235483
    Ion_trans; Ion transport protein
    pfam07885
    Location:423477
    Ion_trans_2; Ion channel
    pfam13426
    Location:39135
    PAS_9; PAS domain
  2. NM_172362.2NP_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)
    AC096636, AF078742, AJ001366
    Consensus CDS
    CCDS1496.1
    UniProtKB/Swiss-Prot
    O95259
    Related
    ENSP00000271751.4, OTTHUMP00000034451, ENST00000271751.9, OTTHUMT00000088332
    Conserved Domains (6) summary
    COG0664
    Location:575720
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:581691
    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 ...
    cd00130
    Location:39133
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:235510
    Ion_trans; Ion transport protein
    pfam07885
    Location:450504
    Ion_trans_2; Ion channel
    pfam13426
    Location:39135
    PAS_9; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    210678314..211134115 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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