Human Gene KCNH1 (ENST00000271751.10_12) from GENCODE V47lift37
  Description: potassium voltage-gated channel subfamily H member 1, transcript variant 1 (from RefSeq NM_172362.3)
Gencode Transcript: ENST00000271751.10_12
Gencode Gene: ENSG00000143473.14_19
Transcript (Including UTRs)
   Position: hg19 chr1:210,851,656-211,307,490 Size: 455,835 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr1:210,856,623-211,307,287 Size: 450,665 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:210,851,656-211,307,490)mRNA (may differ from genome)Protein (989 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNH1
Diseases sorted by gene-association score: temple-baraitser syndrome* (1690), zimmermann-laband syndrome 1* (1330), zimmermann-laband syndrome* (390), myasthenic syndrome, congenital, 5 (9), cardiomyopathy, dilated, 1d (8), acute contagious conjunctivitis (5), neuromuscular junction disease (4), long qt syndrome (3), neuroblastoma (1), congenital myasthenic syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.00 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 14.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -101.90203-0.502 Picture PostScript Text
3' UTR -1603.304967-0.323 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018490 - cNMP-bd-like
IPR000595 - cNMP-bd_dom
IPR005821 - Ion_trans_dom
IPR003949 - K_chnl_volt-dep_EAG
IPR003938 - K_chnl_volt-dep_EAG/ELK/ERG
IPR001610 - PAC
IPR000014 - PAS
IPR000700 - PAS-assoc_C
IPR014710 - RmlC-like_jellyroll

Pfam Domains:
PF00027 - Cyclic nucleotide-binding domain
PF00520 - Ion transport protein
PF00989 - PAS fold
PF07885 - Ion channel
PF13426 - PAS domain

SCOP Domains:
51182 - RmlC-like cupins
51206 - cAMP-binding domain-like
55785 - PYP-like sensor domain (PAS domain)
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on O95259
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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

Cellular Component:
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0030425 dendrite
GO:0030673 axolemma
GO:0031901 early endosome membrane
GO:0034705 potassium channel complex
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043204 perikaryon
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF078741 - Homo sapiens voltage-gated potassium channel eag (EAG) mRNA, complete cds.
AF078742 - Homo sapiens voltage-gated potassium channel eagB (EAG) mRNA, complete cds.
BC113709 - Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1, mRNA (cDNA clone MGC:142269 IMAGE:8322761), complete cds.
BC143599 - Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1, mRNA (cDNA clone MGC:177128 IMAGE:9052111), complete cds.
AJ001366 - Homo sapiens potassium channel h-eag.
KT895501 - Homo sapiens potassium voltage-gated channel subfamily H member 1 isoform E70 (KCNH1) mRNA, complete cds, alternatively spliced.
KT895502 - Homo sapiens potassium voltage-gated channel subfamily H member 1 isoform E65 (KCNH1) mRNA, complete cds, alternatively spliced.
AK127526 - Homo sapiens cDNA FLJ45619 fis, clone BRTHA3027318.
JD465571 - Sequence 446595 from Patent EP1572962.
JD459032 - Sequence 440056 from Patent EP1572962.
JD436428 - Sequence 417452 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95259 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B1AQ26, EAG , EAG1 , ENST00000271751.1, ENST00000271751.2, ENST00000271751.3, ENST00000271751.4, ENST00000271751.5, ENST00000271751.6, ENST00000271751.7, ENST00000271751.8, ENST00000271751.9, KCNH1_HUMAN, NM_172362, O76035, O95259, Q14CL3, uc317iwt.1, uc317iwt.2
UCSC ID: ENST00000271751.10_12
RefSeq Accession: NM_172362.3
Protein: O95259 (aka KCNH1_HUMAN or KCH1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.