Free for academic non-profit institutions. Other users need a Commercial license

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 Transmission across Chemical Synapses and Potassium Channels. Gene Ontology (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

Additional gene information for KCNH1 Gene

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

Genomics for KCNH1 Gene

GeneHancer (GH) Regulatory Elements for KCNH1 Gene

Promoters and enhancers for KCNH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I211133 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.0 16 1.1 ATF1 ARNT SIN3A FEZF1 ZNF48 GLIS2 CBX5 ZNF143 ATF7 KLF13 ENSG00000284299 KCNH1 KCNH1-IT1 ENSG00000283952 ENSG00000284376
GH01I210584 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 +549.6 549579 0.4 HDGF MEIS2 CTCF PKNOX1 NFIB BACH1 SIN3A RAD21 ZNF316 ARID2 KCNH1 KCNH1-IT1 ENSG00000279333 LOC100421537 HHAT
GH01I210406 Enhancer 1 Ensembl ENCODE 11.2 +726.7 726700 1.1 CTCF MXI1 PKNOX1 RB1 ZNF449 KLF17 ZIC2 RAD21 RFX5 ZEB1 KCNH1 KCNH1-IT1 GC01M210375 RNU5A-8P LOC100421537 HHAT
GH01I210581 Enhancer 0.6 ENCODE 12.1 +551.5 551531 1.5 MEIS2 TEAD4 CBFA2T3 ZEB2 GABPA CTBP1 NCOR1 KLF16 VEZF1 CREM KCNH1 KCNH1-IT1 ENSG00000279333 LOC100421537 HHAT
GH01I210436 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.8 +695.1 695140 5.3 SCRT1 PKNOX1 JUN USF2 KLF17 EBF1 SP1 ATF3 POLR2A GLIS1 HHAT KCNH1 LOC100421537 RNU5A-8P GC01M210375
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNH1 gene promoter:

Genomic Locations for KCNH1 Gene

Genomic Locations for KCNH1 Gene
chr1:210,676,823-211,134,180
(GRCh38/hg38)
Size:
457,358 bases
Orientation:
Minus strand
chr1:210,851,657-211,307,457
(GRCh37/hg19)

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 isoforms=2415 and isoforms=2433

No data available for DME Specific Peptides for KCNH1 Gene

Domains & Families for KCNH1 Gene

Gene Families for KCNH1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

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.
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).

Phenotypes From GWAS Catalog for KCNH1 Gene

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 TAS,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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNH1 gene
Compartment Confidence
plasma membrane 5
endosome 5
nucleus 4
cytosol 3
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
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: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Astemizole Approved, Withdrawn Pharma Pore Blocker, Target, antagonist 0
Imipramine Approved Pharma Antagonist, Target, inhibitor 31
Dofetilide Approved, Investigational Pharma Pore Blocker, blocker 16
Haloperidol Approved Pharma Antagonist, antagonist Antipsychotic drug 155
Quinidine Approved, Investigational Pharma Pore Blocker, blocker 48

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNH1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
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:
(17) 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for KCNH1 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • liver
  • spleen
Pelvis:
  • pelvis
  • penis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
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 33 34
  • 98.36 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNH1 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH1 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH1 33 34
  • 91.39 (n)
dog
(Canis familiaris)
Mammalia LOC490277 33
  • 90.67 (n)
KCNH1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh1 33 16 34
  • 88.67 (n)
rat
(Rattus norvegicus)
Mammalia Kcnh1 33
  • 88.32 (n)
chicken
(Gallus gallus)
Aves KCNH1 33 34
  • 81.2 (n)
lizard
(Anolis carolinensis)
Reptilia KCNH1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh1 33
  • 78.45 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnh1b 34
  • 81 (a)
OneToMany
kcnh1a 33
  • 73.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta eag 35 34
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-2 35 34
  • 57 (a)
rice
(Oryza sativa)
Liliopsida Os01g0756700 33
  • 43.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs727502819 pathogenic, Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1, Temple-Baraitser syndrome (TMBTS) [MIM:611816], Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] 210,804,149(-) T/C coding_sequence_variant, missense_variant
rs727502820 pathogenic, Temple-Baraitser syndrome 210,804,083(-) G/A coding_sequence_variant, missense_variant
rs727502821 pathogenic, Temple-Baraitser syndrome, Temple-Baraitser syndrome (TMBTS) [MIM:611816] 210,804,121(-) T/C coding_sequence_variant, missense_variant
rs727502822 pathogenic, Temple-Baraitser syndrome, Temple-Baraitser syndrome (TMBTS) [MIM:611816] 211,019,164(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs730882172 pathogenic, Zimmermann-Laband syndrome 1, Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] 210,920,047(-) G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information 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

(11) MalaCards diseases for KCNH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for KCNH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 letters 1998) 2 3 4 22 58
  2. Inhibition of human ether à go-go potassium channels by Ca(2+)/calmodulin. (PMID: 10880439) Schönherr R … Heinemann SH (The EMBO journal 2000) 3 4 22 58
  3. Calmodulin Regulates Human Ether à Go-Go 1 (hEAG1) Potassium Channels through Interactions of the Eag Domain with the Cyclic Nucleotide Binding Homology Domain. (PMID: 27325704) Lörinczi E … Mitcheson JS (The Journal of biological chemistry 2016) 3 4 58
  4. Human EAG channels are directly modulated by PIP2 as revealed by electrophysiological and optical interference investigations. (PMID: 27005320) Han B … Hou S (Scientific reports 2016) 3 4 58
  5. Molecular Insights into the Mechanism of Calmodulin Inhibition of the EAG1 Potassium Channel. (PMID: 27618660) Marques-Carvalho MJ … Morais-Cabral JH (Structure (London, England : 1993) 2016) 3 4 58

Products for KCNH1 Gene

Sources for KCNH1 Gene

Content
Loading form....