Description: Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. RefSeq Summary (NM_172362): 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]. Transcript (Including UTRs) Position: hg19 chr1:210,851,657-211,307,457 Size: 455,801 Total Exon Count: 11 Strand: - Coding Region Position: hg19 chr1:210,856,623-211,307,287 Size: 450,665 Coding Exon Count: 11
ID:KCNH1_HUMAN DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily H member 1; AltName: Full=Ether-a-go-go potassium channel 1; Short=EAG channel 1; Short=h-eag; Short=hEAG1; AltName: Full=Voltage-gated potassium channel subunit Kv10.1; FUNCTION: Pore-forming (alpha) subunit of voltage-gated non- inactivating delayed rectifier potassium channel. Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts. SUBUNIT: 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. Interacts with ALG10B (By similarity). INTERACTION: P62158:CALM3; NbExp=2; IntAct=EBI-2909270, EBI-397435; SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Nucleus inner membrane; Multi-pass membrane protein. Note=Perinuclear KCNH1 is located to NPC-free islands. 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. DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. SIMILARITY: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily. SIMILARITY: Contains 1 cyclic nucleotide-binding domain. SIMILARITY: Contains 1 PAC (PAS-associated C-terminal) domain. SIMILARITY: Contains 1 PAS (PER-ARNT-SIM) domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/KCNH1ID41048ch1q32.html";
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Creatinine Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95259
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000155 phosphorelay sensor kinase activity GO:0005216 ion channel activity GO:0005244 voltage-gated ion channel activity GO:0005249 voltage-gated potassium channel activity GO:0005251 delayed rectifier potassium channel activity GO:0005267 potassium channel activity GO:0005515 protein binding GO:0005516 calmodulin binding GO:0008289 lipid binding GO:0019901 protein kinase binding GO:0042802 identical protein binding GO:0044325 ion channel binding GO:0046982 protein heterodimerization activity GO:0071889 14-3-3 protein binding GO:1902936 phosphatidylinositol bisphosphate binding GO:0030551 cyclic nucleotide binding
Biological Process: GO:0000160 phosphorelay signal transduction system GO:0001964 startle response GO:0006811 ion transport GO:0006813 potassium ion transport GO:0007520 myoblast fusion GO:0023014 signal transduction by protein phosphorylation GO:0034220 ion transmembrane transport GO:0034765 regulation of ion transmembrane transport GO:0042127 regulation of cell proliferation GO:0042391 regulation of membrane potential GO:0048015 phosphatidylinositol-mediated signaling GO:0055085 transmembrane transport GO:0071277 cellular response to calcium ion GO:0071805 potassium ion transmembrane transport
US Server
