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Aliases & Descriptions for KCNH1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EAG 2 , 3 , 5 EAG1 2 , 3 Kv10.1 1 , 2 MGC142269 2 OTTHUMP00000034451 2 OTTHUMP00000034569 2 eag 1 eag1 1 h-eag 1 , 2 , 3 hEAG1 3
Descriptions Ether-a-go-go potassium channel 1 2 , 3 Voltage-gated potassium channel subunit Kv10.1 3 ether-a-go-go, Drosophila, homolog of 2 potassium channel, voltage-gated, subfamily H, member 1 2 potassium voltage-gated channel, subfamily H (eag-related), member 1 2 potassium voltage-gated channel, subfamily H, member 1 2
Search outside databases for aliases for KCNH1 genePrevious GC identifers: GC01M209587 GC01M206691 GC01M207495 GC01M207935 GC01M207244
Summaries for KCNH1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for KCNH1 : Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ionchannels from both functional and structural standpoints. Their diverse functions includeregulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability,epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes amember 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 activatedat 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 cellproliferation. Alternative splicing of this gene results in two transcript variants encodingdistinct isoforms. [provided by RefSeq] UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259 Function : Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifierpotassium channel. Channel properties may be modulated by cAMP and subunit assembly. MediatesIK(NI) current in myoblasts
Gene Wiki entry for KCNH1
Genomic Location for KCNH1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the KCNH1 gene Entrez Gene cytogenetic band: 1q32-q41 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32.2 KCNH1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M208923:
(about GC identifiers )
Start:
208,923,178 bp from pter
End:
209,374,080 bp from pter
Size:
450,903 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000001.9 NT_021877.18 Proteins for KCNH1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259 (See
protein sequence )Recommended Name: Potassium voltage-gated channel subfamily H member 1 Size : 989 amino acids; 111423 Da
Subunit : The potassium channel is probably composed of a homo- or heterotetrameric complex ofpore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer withKCNH5/EAG2. Interacts with ALG10B (By similarity)
Subcellular location : Membrane; Multi-pass membrane protein
Secondary accessions : O76035Alternative splicing : 2 isoforms : O95259-1 O95259-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_002229.1 NP_758872.1 ENSEMBL proteins: ENSP00000271751 ENSP00000355974 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for KCNH1: Assays for KCNH1:
Protein
Domains/ Families for KCNH1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O95259 ProtoNet protein and cluster: O95259
5/6 Blocks protein families (see all 6
): IPB000014 PAS domain IPB000595 Cyclic nucleotide-binding domain IPB001610 PAC motif IPB003938 EAG/ELK/ERG potassium channel family signature IPB003949 EAG potassium channel signature UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259 Domain : The segment S4 is probably the voltage-sensor and is characterized by a series ofpositively charged amino acids at every third position Similarity : Belongs to the potassium channel family. H (Eag) subfamilySimilarity : Contains 1 cyclic nucleotide-binding domainSimilarity : Contains 1 PAC (PAS-associated C-terminal) domainSimilarity : Contains 1 PAS (PER-ARNT-SIM) domain
Gene Function for KCNH1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_172362 Applied Biosystems Silencer ® siRNAs for KCNH1 Sigma-Aldrich siRNA and siRNA Panels for KCNH1 Sigma-Aldrich shRNA Panels and shRNA for KCNH1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_002238                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_002238                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_002238  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_172362 UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259 Function : Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifierpotassium channel. Channel properties may be modulated by cAMP and subunit assembly. MediatesIK(NI) current in myoblasts
Genatlas biochemistry entry for KCNH1 :potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,expressed inmyoblasts at the onset of fusion and in adult brain tissue,similar to the non-inactivating delayedrectified potassium channel (I(K(NI)) 5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for KCNH1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for KCNH1 5/46 Interacting proteins for KCNH1 (ENSP00000271751 3 ) via UniProtKB, MINT, and/or STRING (see all 46
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for KCNH1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for KCNH1
Sigma-Aldrich Small Molecules for KCNH1:Antagonist
Compounds for KCNH1 available from Tocris Bioscience About this table 1 Novoseek chemical compound relationship for KCNH1 gene
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Transcripts for KCNH1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_172362 Sigma-Aldrich siRNA and siRNA Panels for KCNH1 Sigma-Aldrich shRNA Panels and shRNA for KCNH1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_002238 NM_172362
REFSEQ mRNAs for KCNH1 gene (2 alternative transcripts): NM_002238.3 NM_172362.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002238 NM_172362
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_002238                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_002238                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_002238  
Additional cDNA sequence: AJ001366.1 AK127526.1 BC113709.1 BC143599.1
4 DOTS entries : DT.95103014 DT.91753863 DT.100008058 DT.455175
5 AceView cDNA sequences :NM_002238 AJ001366 NM_172362 AF078741 AF078742
highest scoring ESTs for KCNH1 :AF078742 AJ001366 AF078741 BF949480 NM_002238 NM_172362 AA435647 DB021985 AA393900 AA908907
Unigene Cluster for KCNH1: Potassium voltage-gated channel, subfamily H (eag-related), member 1 Hs.553187 [show with all ESTs ] Unigene Representative Sequence: NM_172362 GeneLoc Exon Structure 2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH1 ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b SP1 :               -               SP2 :                            
About this scheme ECgene alternative splicing isoforms for KCNH1 2 Ensembl transcripts including schematic representations : ENST00000271751
ENST00000367007
Expression for KCNH1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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KCNH1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for KCNH1 1 / 2 / 3
4 probe-sets matching KCNH1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.553187 Expression variation in blood from EXPOLDB for KCNH1
UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259 Tissue specificity : Highly expressed in brain and in myoblasts at the onset of fusion, but not inother tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7(epithelial tumor) cells, but not in normal epithelial cells
Orthologs for KCNH1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for KCNH1 gene from 5/9 species (see all 9
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
KCNH11
--
potassium voltage-gated channel, subfamily H (eag-related), more
87.56(n) 91.27(a)
490277 XM_547397.2 XP_547397.2
chimpanzee (Pan troglodytes)
KCNH11
--
potassium voltage-gated channel, subfamily H (eag-related), more
99(n) 98.86(a)
745653 XM_001169423.1 XP_001169423.1
cow (Bos taurus)
KCNH11
--
potassium voltage-gated channel, subfamily H (eag-related), more
91.18(n) 96.98(a)
281881 NM_174372.2 NP_776797.1
rat (Rattus norvegicus)
Kcnh11
--
potassium voltage-gated channel, subfamily H (eag-related), more
88.32(n) 97.71(a)
65198 NM_031742.1 NP_113930.1
mouse (Mus musculus)
Kcnh11 , 5
15
potassium voltage-gated channel, subfamily H (eag-related), more 1, 5
88.67(n) 1 96.99(a) 1
16510 1 NM_001038607.1 1 NP_001033696.1 1 AA547351 5 AK047694 5 (see all 12 )
About this table Species with no ortholog for KCNH1 ENSEMBL Gene Tree for KCNH1 Paralogs for KCNH1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for KCNH1 gene KCNH5 2
SNPs/Variants for KCNH1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for KCNH1 (up to first 250kb)
Disorders & Mutations for KCNH1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603305 UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259
Overexpression of EAG may confer a growth advantage to cancer cells and favor tumor cellproliferation
1 Novoseek disease relationship for KCNH1 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
cancer
0.00
2
19351862 (1), 15365094 (1)
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Medical News for KCNH1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for KCNH1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/38 PubMed articles for KCNH1 gene (see all 38
): Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. (PubMed id 9738473) 1, 2, 3, 4 Occhiodoro T.... Fischer-Lougheed J. (1998) Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin. (PubMed id 10880439) 1, 3, 4 Schoenherr R.... Heinemann S.H. (2000) International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104) 2, 3 Gutman G.A....Wang X. (2005) Functional distinction of human EAG1 and EAG2 potassium channels. (PubMed id 11943152) 3, 4 Schoenherr R.... Heinemann S.H. (2002) Oncogenic potential of EAG K(+) channels. (PubMed id 10523298) 3, 4 Pardo L.A.... Stuehmer W. (1999) Ether a go-go potassium channel expression in soft tissue sarcoma patients. (PubMed id 17022811) 1, 3 Mello de Queiroz F....Pardo L.A. (2006) Inhibition of human ether a go-go potassium channels by Ca2+/calmodulin binding to the cytosolic N- and C-termini. (PubMed id 16478480) 1, 3 Ziechner U....Heinemann S.H. (2006) Eag1 potassium channel immunohistochemistry in the CNS of adult rat and selected regions of human brain. (PubMed id 18650019) 1, 3 Martin S....Del Bel E. (2008) Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cells. (PubMed id 18222922) 3 Spitzner M....Kunzelmann K. (2008) Eag1 expression interferes with hypoxia homeostasis and induces angiogenesis in tumors. (PubMed id 18927085) 3 Downie B.R....Pardo L.A. (2008)
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AND OR
Aliases
KCNH1 (Gene Symbol) EAG EAG1 Kv10.1 MGC142269 OTTHUMP00000034451 OTTHUMP00000034569 eag eag1 h-eag hEAG1 Ether-a-go-go potassium channel 1 Voltage-gated potassium channel subunit Kv10.1 ether-a-go-go, Drosophila, homolog of potassium channel, voltage-gated, subfamily H, member 1 potassium voltage-gated channel, subfamily H (eag-related), member 1 potassium voltage-gated channel, subfamily H, member 1
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OMIM
NCBI Bookshelf
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Genome Databases showing KCNH1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing KCNH1
(According to HUGE )
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--
Specialized Databases showing KCNH1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for KCNH1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for KCNH1:
Tocris compounds for KCNH1
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Databases for KCNH1
Disorders for KCNH1
Domains/Families for KCNH1
Drugs/Compounds for KCNH1
Expression for KCNH1
Function for KCNH1
Location for KCNH1
Medical News for KCNH1
Orthologs for KCNH1
Paralogs for KCNH1
Pathways/Interactions for KCNH1
Proteins for KCNH1
Publications for KCNH1
SNPs for KCNH1
Search Box for KCNH1
Services for KCNH1
Summaries for KCNH1
Technologies for KCNH1
Transcripts for KCNH1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009