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

Gene ID: 3756, updated on 4-Jan-2025

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; K(V)10.1
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:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (210678314..211134148, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (209920145..210379828, complement)
RS_2024_09 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 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:210547305-210548216 Neighboring gene Sharpr-MPRA regulatory region 10816 Neighboring gene RNA, U5A small nuclear 8, pseudogene Neighboring gene hedgehog acyltransferase Neighboring gene BPNT2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210770524-210771385 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210771386-210772246 Neighboring gene Sharpr-MPRA regulatory region 1701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210863521-210864021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2481 Neighboring gene uncharacterized LOC105372901 Neighboring gene MPRA-validated peak678 silencer Neighboring gene MPRA-validated peak679 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3130 Neighboring gene MPRA-validated peak680 silencer Neighboring gene importin 8 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3630 Neighboring gene MPRA-validated peak681 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:211306707-211306897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1781 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-06-28)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2023-06-28)

ClinGen Genome Curation PagePubMed

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

General gene information

Clone Names

  • MGC142269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding  
NOT enables cyclic nucleotide binding  
enables delayed rectifier potassium channel activity  
enables delayed rectifier potassium channel activity PubMed 
enables phosphatidylinositol bisphosphate binding PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
located_in axon  
located_in dendrite  
located_in early endosome membrane PubMed 
located_in intracellular membrane-bounded organelle  
located_in nuclear inner membrane  
located_in perikaryon  
is_active_in plasma membrane  
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in postsynaptic density membrane  
located_in presynaptic membrane  
part_of voltage-gated potassium channel complex  
part_of voltage-gated potassium channel complex PubMed 

General protein information

Preferred Names
voltage-gated delayed rectifier potassium channel KCNH1; 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  voltage-gated delayed rectifier potassium channel KCNH1 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/TrEMBL
    A0A977NV57
    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  voltage-gated delayed rectifier potassium channel KCNH1 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
    B1AQ26, O76035, O95259, Q14CL3
    UniProtKB/TrEMBL
    A0A977NV57
    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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047419823.1XP_047275779.1  potassium voltage-gated channel subfamily H member 1 isoform X1

    UniProtKB/TrEMBL
    A0A1X7SBS6
    Related
    ENSP00000355974.5, ENST00000367007.5
  2. XM_047419829.1XP_047275785.1  potassium voltage-gated channel subfamily H member 1 isoform X3

    UniProtKB/TrEMBL
    A0A1W2PPA2
  3. XM_017001246.2XP_016856735.1  potassium voltage-gated channel subfamily H member 1 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PPA2
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    209920145..210379828 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336469.1XP_054192444.1  potassium voltage-gated channel subfamily H member 1 isoform X1

    UniProtKB/TrEMBL
    A0A1X7SBS6
  2. XM_054336471.1XP_054192446.1  potassium voltage-gated channel subfamily H member 1 isoform X3

    UniProtKB/TrEMBL
    A0A1W2PPA2
  3. XM_054336470.1XP_054192445.1  potassium voltage-gated channel subfamily H member 1 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PPA2
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