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Aliases for KCNH1 Gene

Aliases for KCNH1 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 1 2 3 5
  • 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
  • EAG 3 4
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 1 3
  • Ether-A-Go-Go, Drosophila, Homolog Of 3
  • KV10.1 3
  • TMBTS 3
  • ZLS1 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 Voltage-Gated Channel Subfamily H Member 1) is a Protein Coding gene. Diseases associated with KCNH1 include Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome 1. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include signal transducer activity and ion channel activity. An important paralog of this gene is KCNH5.

UniProtKB/Swiss-Prot for KCNH1 Gene

  • Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660). Channel properties are modulated by subunit assembly (PubMed:11943152). 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

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

Enhancers for KCNH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F210581 0.5 ENCODE 12.1 +551.5 551467 1.5 ARID1B ZNF680 KLF16 GATA2 NCOR1 NR2F1 NR2F6 CREM HES1 GABPA KCNH1 KCNH1-IT1 ENSG00000279333 LOC100421537
GH01F210415 0.2 ENCODE 12 +716.8 716823 2.6 CTCF ZNF146 KCNH1 KCNH1-IT1 IRF6 RNU5A-8P GC01M210375 LOC100421537
GH01F210584 1.1 Ensembl ENCODE 11.9 +549.5 549466 0.3 HDGF CTCF PKNOX1 SIN3A RAD21 ZNF316 ZBTB48 ZNF143 SMC3 NFE2 KCNH1 KCNH1-IT1 ENSG00000279333 LOC100421537
GH01F210418 0.2 ENCODE 11.6 +714.8 714836 0.8 NR3C1 KCNH1 KCNH1-IT1 TRAF3IP3 LOC100421537 GC01M210375 RNU5A-8P
GH01F210406 0.2 ENCODE 11.2 +726.6 726635 1.1 CTCF PKNOX1 KLF17 ZIC2 RAD21 ZEB1 ZNF101 RFX5 ZNF143 SMC3 KCNH1 KCNH1-IT1 RNU5A-8P GC01M210375 LOC100421537
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KCNH1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082682 115 1201 ATF1 CREB3L1 SIN3A FEZF1 ZNF48 GLIS2 CBX5 ZNF143 ZMIZ1 KLF13

Genomic Location for KCNH1 Gene

Chromosome:
1
Start:
210,678,314 bp from pter
End:
211,134,115 bp from pter
Size:
455,802 bases
Orientation:
Minus strand

Genomic View for KCNH1 Gene

Genes around KCNH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 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). Interacts (via C-terminal cytoplasmic region) with Ca(2+)-bound calmodulin (PubMed:10880439, PubMed:27325704, PubMed:27618660).

    Three dimensional structures from OCA and Proteopedia for KCNH1 Gene

    Alternative splice isoforms for KCNH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH1 Gene

Post-translational modifications for KCNH1 Gene

  • Channel activity is regulated via tyrosine phosphorylation/dephosphorylation by SRC and PTPN6 (PubMed:24587194).
  • Glycosylation at Asn 415 and Asn 433
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH1 Gene

No data available for DME Specific Peptides for KCNH1 Gene

Domains & Families for KCNH1 Gene

Gene Families for KCNH1 Gene

Graphical View of Domain Structure for InterPro Entry

O95259

UniProtKB/Swiss-Prot:

KCNH1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily.
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 and PAC domain interact with the cyclic nucleotide-binding domain and contribute to the regulation of channel gating (PubMed:27325704). Calmodulin binding clamps together the PAS and PAC domain with the cyclic nucleotide-binding domain from a neighboring subunit and causes a conformation change that leads to channel closure.
  • 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 EnzymeRegulation:
Channel activity is inhibited by interaction with Ca(2+)-bound calmodulin (PubMed:10880439, PubMed:27325704, PubMed:27005320, PubMed:27618660). Interaction of a single pore-forming alpha subunit with a calmodulin chain is sufficient to promote channel closure (PubMed:10880439). Channel activity is not regulated by cyclic nucleotides (By similarity). Channel activity is inhibited by binding intracellular phosphatidylinositol-3,5-bisphosphate and phosphatidylinositol-4,5-bisphosphate (PIP2), but is not inhibited by phosphatidylinositol 4-phosphate (PubMed:27005320).
UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:9738473, PubMed:11943152, PubMed:10880439, PubMed:22732247, PubMed:25556795, PubMed:27325704, PubMed:27005320, PubMed:27618660). Channel properties are modulated by subunit assembly (PubMed:11943152). 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:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005251 delayed rectifier potassium channel activity IDA 22732247
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

Human Phenotype Ontology for KCNH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNH1 Gene

MGI Knock Outs for KCNH1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cell projection, dendrite. Cell projection, axon. Cell junction, synapse, presynaptic cell membrane. Perikaryon. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. 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
endosome 5
nucleus 5
plasma membrane 5
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IMP 22732247
genes like me logo Genes that share ontologies with KCNH1: view

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for KCNH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system IEA --
GO:0001964 startle response IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,TAS 9738473
genes like me logo Genes that share ontologies with KCNH1: view

No data available for SIGNOR curated interactions for KCNH1 Gene

Drugs & Compounds for KCNH1 Gene

(17) Drugs for KCNH1 Gene - From: DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Astemizole Approved, Withdrawn Pharma Pore Blocker, antagonist Orally active, potent H1 antagonist. Also KV11.1 (hERG) channel blocker. 0
Dofetilide Approved Pharma Pore Blocker, blocker 14
Haloperidol Approved Pharma Antagonist, antagonist Antipsychotic drug 141
Imipramine Approved Pharma Antagonist, inhibitor 27
Quinidine Approved Pharma Pore Blocker, blocker 44

(2) Additional Compounds for KCNH1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(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
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNH1: view

Transcripts for KCNH1 Gene

mRNA/cDNA for KCNH1 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(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:

Inhibitory RNA Products

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) (x8.7), Brain - Cerebellar Hemisphere (x7.6), Brain - Cerebellum (x5.6), Brain - Cortex (x5.4), and Brain - Anterior cingulate cortex (BA24) (x5.1).

Protein differential expression in normal tissues from HIPED for KCNH1 Gene

This gene is overexpressed in Amniocyte (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH1 Gene



Protein tissue co-expression partners for KCNH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNH1 Gene:

KCNH1

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 expression patterns with KCNH1: view

Primer 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 34 35
  • 98.36 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNH1 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH1 34 35
  • 91.39 (n)
dog
(Canis familiaris)
Mammalia LOC490277 34
  • 90.67 (n)
KCNH1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh1 34 16 35
  • 88.67 (n)
rat
(Rattus norvegicus)
Mammalia Kcnh1 34
  • 88.32 (n)
chicken
(Gallus gallus)
Aves KCNH1 34 35
  • 81.2 (n)
lizard
(Anolis carolinensis)
Reptilia KCNH1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh1 34
  • 78.45 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnh1b 35
  • 81 (a)
OneToMany
kcnh1a 34
  • 73.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta eag 36 35
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-2 36 35
  • 57 (a)
rice
(Oryza sativa)
Liliopsida Os01g0756700 34
  • 43.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
OneToMany
Species where no ortholog for KCNH1 was found in the sources mined by GeneCards:
  • 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

(6) 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
rs727502819 Temple-Baraitser syndrome (TMBTS) [MIM:611816], Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500], Pathogenic 210,804,149(-) CCACC(A/G)TCTTC reference, missense
rs727502821 Temple-Baraitser syndrome (TMBTS) [MIM:611816], Pathogenic 210,804,121(-) TTTCC(A/G)ACAGA reference, missense
rs727502822 Temple-Baraitser syndrome (TMBTS) [MIM:611816], Pathogenic 211,019,164(-) TTTAA(C/G)ACCAC reference, missense
rs730882172 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500], Pathogenic 210,920,047(-) CAGCT(A/C)TCTAA reference, missense, utr-variant-5-prime
rs730882173 Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500], Pathogenic 210,919,955(-) TGCTG(C/G)TGTGT reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv1705029 CNV insertion 17803354
esv1789869 CNV insertion 17803354
esv2186126 CNV deletion 18987734
esv2570583 CNV deletion 19546169
esv2675602 CNV deletion 23128226
esv2676211 CNV deletion 23128226
esv2722350 CNV deletion 23290073
esv3391368 CNV insertion 20981092
esv3545966 CNV deletion 23714750
esv3578411 CNV loss 25503493
esv3588723 CNV loss 21293372
esv3588724 CNV loss 21293372
nsv1068843 CNV deletion 25765185
nsv1116622 CNV tandem duplication 24896259
nsv4398 CNV deletion 18451855
nsv4410 CNV deletion 18451855
nsv468083 CNV loss 19166990
nsv473603 CNV novel sequence insertion 20440878
nsv475328 CNV novel sequence insertion 20440878
nsv478747 CNV novel sequence insertion 20440878
nsv480066 CNV novel sequence insertion 20440878
nsv481086 CNV novel sequence insertion 20440878
nsv506977 OTHER sequence alteration 20534489
nsv520509 CNV loss 19592680
nsv524740 CNV loss 19592680
nsv524860 CNV gain 19592680
nsv549123 CNV loss 21841781
nsv549124 CNV loss 21841781
nsv832503 CNV gain 17160897
nsv945275 CNV duplication 23825009
nsv952686 CNV deletion 24416366
nsv954907 CNV deletion 24416366
nsv999018 CNV gain 25217958

Variation tolerance for KCNH1 Gene

Residual Variation Intolerance Score: 2.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH1 Gene

Human Gene Mutation Database (HGMD)
KCNH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNH1

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

Disorders for KCNH1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KCNH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
temple-baraitser syndrome
  • severe mental retardation and absent nails of hallux and pollex
zimmermann-laband syndrome 1
  • laband syndrome
zimmermann-laband syndrome
  • laband syndrome
acute contagious conjunctivitis
  • contagious opthalmia
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search KCNH1 in MalaCards View complete list of genes associated with diseases

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.
  • Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. {ECO:0000269 PubMed:25915598}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNH1

Genetic Association Database (GAD)
KCNH1
Human Genome Epidemiology (HuGE) Navigator
KCNH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH1
genes like me logo Genes that share disorders with KCNH1: view

No data available for Genatlas for KCNH1 Gene

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 22 64
  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 22 64
  3. Human EAG channels are directly modulated by PIP2 as revealed by electrophysiological and optical interference investigations. (PMID: 27005320) Han B. … Hou S. (Sci. Rep. 2016) 3 4 64
  4. Calmodulin regulates human ether a go-go 1 (hEAG1) potassium channels through interactions of the Eag domain with the cyclic nucleotide binding homology domain. (PMID: 27325704) Loerinczi E. … Mitcheson J.S. (J. Biol. Chem. 2016) 3 4 64
  5. Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. (PMID: 25420144) Simons C. … Taft R.J. (Nat. Genet. 2015) 3 4 64

Products for KCNH1 Gene

Sources for KCNH1 Gene

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