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Aliases for KCNH1 Gene

Aliases for KCNH1 Gene

  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 1 2 3
  • EAG 3 4 6
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv10.1 3 4
  • Ether-A-Go-Go Potassium Channel 1 3 4
  • EAG Channel 1 3 4
  • H-Eag 3 4
  • HEAG1 3 4
  • EAG1 3 4
  • Potassium Voltage-Gated Channel Subfamily H Member 1 3
  • Ether-A-Go-Go, Drosophila, Homolog Of 3
  • Kv10.1 3
  • TMBTS 3

External Ids for KCNH1 Gene

Previous GeneCards Identifiers for KCNH1 Gene

  • GC01M209587
  • GC01M206691
  • GC01M207495
  • GC01M207935
  • GC01M207244
  • GC01M208923
  • GC01M210851
  • GC01M181528

Summaries for KCNH1 Gene

Entrez Gene Summary for KCNH1 Gene

  • 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]

GeneCards Summary for KCNH1 Gene

KCNH1 (Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 1) is a Protein Coding gene. Diseases associated with KCNH1 include temple-baraitser syndrome. Among its related pathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include calmodulin binding and phosphorelay sensor kinase activity. An important paralog of this gene is KCNH8.

UniProtKB/Swiss-Prot for KCNH1 Gene

  • Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:22732247). Channel properties may be modulated by subunit assembly, but not by cyclic nucleotides (By similarity). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).

Tocris Summary for KCNH1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNH1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH1 Gene

Genomics for KCNH1 Gene

Regulatory Elements for KCNH1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNH1 Gene

Start:
210,678,315 bp from pter
End:
211,134,115 bp from pter
Size:
455,801 bases
Orientation:
Minus strand

Genomic View for KCNH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH1 Gene

Proteins for KCNH1 Gene

  • Protein details for KCNH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95259-KCNH1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 1
    Protein Accession:
    O95259
    Secondary Accessions:
    • B1AQ26
    • O76035
    • Q14CL3

    Protein attributes for KCNH1 Gene

    Size:
    989 amino acids
    Molecular mass:
    111423 Da
    Quaternary structure:
    • The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH5/EAG2 (PubMed:11943152). Interacts with ALG10B (By similarity). Interacts with RABEP1 (By similarity). Interacts (via C-terminus) with CTTN (PubMed:23144454).

    Alternative splice isoforms for KCNH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH1 Gene

Proteomics data for KCNH1 Gene at MOPED

Post-translational modifications for KCNH1 Gene

  • Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194).
  • Glycosylation at Asn415 and Asn433
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNH1 Gene

Domains for KCNH1 Gene

Gene Families for KCNH1 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O95259

UniProtKB/Swiss-Prot:

KCNH1_HUMAN :
  • O95259
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position
  • The C-terminal region interacts with the cyclic nucleotide-binding domain and contributes to regulate channel gating.
  • The PAS domain interacts with the cyclic nucleotide-binding domain and contributes to regulate channel gating.
  • The cyclic nucleotide-binding domain lacks residues that are essential for nucleotide-binding and cannot bind cyclic nucleotides. Instead, residues from the C-terminal domain (the so-called intrinsic ligand) bind in the cavity that would be expected to bind cyclic nucleotides. Interaction with the C-terminal region hinders interaction with CALM and reduces the affinity for CALM.
  • Contains 1 cyclic nucleotide-binding domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 1 PAS (PER-ARNT-SIM) domain.
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily.
genes like me logo Genes that share domains with KCNH1: view

Function for KCNH1 Gene

Molecular function for KCNH1 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,expressed in myoblasts at the onset of fusion and in adult brain tissue,similar to the non-inactivating delayed rectified potassium channel (I(K(NI))
UniProtKB/Swiss-Prot Function: Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:22732247). Channel properties may be modulated by subunit assembly, but not by cyclic nucleotides (By similarity). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).

Gene Ontology (GO) - Molecular Function for KCNH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0004871 signal transducer activity --
GO:0005216 ion channel activity --
GO:0005251 delayed rectifier potassium channel activity IDA 22732247
GO:0005515 protein binding IPI 10880439
genes like me logo Genes that share ontologies with KCNH1: view

Phenotypes for KCNH1 Gene

genes like me logo Genes that share phenotypes with KCNH1: view

Animal Models for KCNH1 Gene

MGI Knock Outs for KCNH1:

Animal Model Products

CRISPR Products

miRNA for KCNH1 Gene

miRTarBase miRNAs that target KCNH1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNH1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KCNH1 Gene

Localization for KCNH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH1 Gene

Cell membrane; Multi-pass membrane protein. Nucleus inner membrane; Multi-pass membrane protein. Early endosome membrane. Note=Perinuclear KCNH1 is located to NPC-free islands.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH1 Gene COMPARTMENTS Subcellular localization image for KCNH1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005637 nuclear inner membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNH1: view

Pathways for KCNH1 Gene

genes like me logo Genes that share pathways with KCNH1: view

Pathways by source for KCNH1 Gene

1 Qiagen pathway for KCNH1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for KCNH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006811 ion transport --
GO:0006813 potassium ion transport TAS 9738473
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with KCNH1: view

Compounds for KCNH1 Gene

(5) Tocris Compounds for KCNH1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker [504-24-5]
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(2) HMDB Compounds for KCNH1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
Potassium
  • K+
7440-09-7

(10) IUPHAR Ligand for KCNH1 Gene

Ligand Type Action Affinity Pubmed IDs
LY97241 Pore Blocker None 8.3
terfenadine Pore Blocker None 7.8
dofetilide Pore Blocker None 7.5
imipramine Antagonist Antagonist 6.9
astemizole Pore Blocker None 6.7
clofilium Pore Blocker None 6.6
E4031 Pore Blocker None 6.4
haloperidol Antagonist Antagonist 6.1
MK-499 Pore Blocker None 6
quinidine Inhibitor Inhibition

(2) Novoseek inferred chemical compound relationships for KCNH1 Gene

Compound -log(P) Hits PubMed IDs
potassium 65.3 10
retinoic acid 34.2 3
genes like me logo Genes that share compounds with KCNH1: view

Transcripts for KCNH1 Gene

mRNA/cDNA for KCNH1 Gene

(4) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNH1 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNH1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KCNH1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2:

Relevant External Links for KCNH1 Gene

GeneLoc Exon Structure for
KCNH1
ECgene alternative splicing isoforms for
KCNH1

Expression for KCNH1 Gene

mRNA expression in normal human tissues for KCNH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (8.7), Brain - Cerebellar Hemisphere (7.6), Brain - Cerebellum (5.6), Brain - Cortex (5.4), and Brain - Anterior cingulate cortex (BA24) (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNH1 Gene

SOURCE GeneReport for Unigene cluster for KCNH1 Gene Hs.553187

mRNA Expression by UniProt/SwissProt for KCNH1 Gene

O95259-KCNH1_HUMAN
Tissue specificity: Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells
genes like me logo Genes that share expressions with KCNH1: view

In Situ Assay Products

Orthologs for KCNH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KCNH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNH1 35
  • 98.36 (n)
  • 98.17 (a)
KCNH1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH1 35
  • 91.39 (n)
  • 97.06 (a)
KCNH1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH1 36
  • 90 (a)
OneToOne
LOC490277 35
  • 90.67 (n)
  • 94.72 (a)
mouse
(Mus musculus)
Mammalia Kcnh1 35
  • 88.67 (n)
  • 96.99 (a)
Kcnh1 16
Kcnh1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNH1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh1 35
  • 88.32 (n)
  • 97.71 (a)
chicken
(Gallus gallus)
Aves KCNH1 35
  • 81.2 (n)
  • 94.1 (a)
KCNH1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh1 35
  • 78.45 (n)
  • 89.97 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnh1a 35
  • 73.42 (n)
  • 83.23 (a)
kcnh1b 36
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta eag 36
  • 41 (a)
OneToMany
eag 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-2 36
  • 47 (a)
OneToMany
egl-2 37
  • 57 (a)
rice
(Oryza sativa)
Liliopsida Os01g0756700 35
  • 43.96 (n)
  • 28.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToMany
Species with no ortholog for KCNH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNH1 Gene

ENSEMBL:
Gene Tree for KCNH1 (if available)
TreeFam:
Gene Tree for KCNH1 (if available)

Paralogs for KCNH1 Gene

Selected SIMAP similar genes for KCNH1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNH1: view

Variants for KCNH1 Gene

Sequence variations from dbSNP and Humsavar for KCNH1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs867846 -- 211,129,028(+) CATCA(G/T)GAGGG intron-variant
rs867847 -- 211,129,052(+) GATTC(A/C)GTGGA intron-variant
rs867848 -- 211,129,185(+) AGTAT(C/G)GTCCA intron-variant
rs867849 -- 211,129,231(+) ATTTT(A/T)AAATG intron-variant
rs868963 -- 210,909,826(+) GGGCA(A/G)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH1 Gene

Variant ID Type Subtype PubMed ID
nsv873148 CNV Gain 21882294
nsv873150 CNV Gain 21882294
nsv873152 CNV Loss 21882294
nsv468083 CNV Loss 19166990
nsv506977 CNV Insertion 20534489
esv1789869 CNV Insertion 17803354
nsv873153 CNV Gain 21882294
esv1705029 CNV Insertion 17803354
nsv832503 CNV Gain 17160897
esv2676211 CNV Deletion 23128226
nsv520509 CNV Loss 19592680
nsv4398 CNV Loss 18451855
nsv873154 CNV Loss 21882294
nsv524740 CNV Loss 19592680
nsv524860 CNV Gain 19592680
esv2570583 CNV Deletion 19546169
nsv4410 CNV Loss 18451855
esv2186126 CNV Deletion 18987734
esv2675602 CNV Deletion 23128226
esv2722350 CNV Deletion 23290073

Relevant External Links for KCNH1 Gene

HapMap Linkage Disequilibrium report
KCNH1
Human Gene Mutation Database (HGMD)
KCNH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH1 Gene

Disorders for KCNH1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KCNH1 Gene including...

Search for KCNH1 Gene in MalaCards »

UniProtKB/Swiss-Prot

KCNH1_HUMAN
  • Temple-Baraitser syndrome (TMBTS) [MIM:611816]: A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. {ECO:0000269 PubMed:25420144}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for KCNH1 Gene

Disease -log(P) Hits PubMed IDs
cancer 2.26 3

Relevant External Links for KCNH1

Genetic Association Database (GAD)
KCNH1
Human Genome Epidemiology (HuGE) Navigator
KCNH1
genes like me logo Genes that share disorders with KCNH1: view

Publications for KCNH1 Gene

  1. Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. (PMID: 9738473) Occhiodoro T. … Fischer-Lougheed J. (FEBS Lett. 1998) 2 3 4 23
  2. Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin. (PMID: 10880439) Schoenherr R. … Heinemann S.H. (EMBO J. 2000) 3 4 23
  3. Ether A go-go potassium channel expression in soft tissue sarcoma patients. (PMID: 17022811) Mello de Queiroz F. … Pardo L.A. (Mol. Cancer 2006) 3 23
  4. Inhibition of human ether A go-go potassium channels by Ca2+/calmodulin binding to the cytosolic N- and C-termini. (PMID: 16478480) Ziechner U. … Heinemann S.H. (FEBS J. 2006) 3 23
  5. Eag1 potassium channel immunohistochemistry in the CNS of adult rat and selected regions of human brain. (PMID: 18650019) Martin S. … Del Bel E. (Neuroscience 2008) 3 23

Products for KCNH1 Gene

Sources for KCNH1 Gene

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