Details for: KCNH1

Gene ID: 3756

Symbol: KCNH1

Ensembl ID: ENSG00000143473

Description: potassium voltage-gated channel subfamily H member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.82
    Marker Score: 32312
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.76
    Marker Score: 10803
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.39
    Marker Score: 9671
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.59
    Marker Score: 10748
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.48
    Marker Score: 3484
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.42
    Marker Score: 92058
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.37
    Marker Score: 87609
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 2.34
    Marker Score: 1294
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.31
    Marker Score: 34582
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 2.24
    Marker Score: 1003
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.24
    Marker Score: 6378.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.2
    Marker Score: 43671
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20240
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.07
    Marker Score: 3925
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127231
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.95
    Marker Score: 14983
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.82
    Marker Score: 17294
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.77
    Marker Score: 5943
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.69
    Marker Score: 14492
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.63
    Marker Score: 2511
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.63
    Marker Score: 1070
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.53
    Marker Score: 3116
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167075.5
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.38
    Marker Score: 3180
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.38
    Marker Score: 2310
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.31
    Marker Score: 415
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.3
    Marker Score: 500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.25
    Marker Score: 12929
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.22
    Marker Score: 710
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.19
    Marker Score: 406
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.14
    Marker Score: 377
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1
    Marker Score: 17238
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.07
    Marker Score: 643
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.07
    Marker Score: 4945
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.04
    Marker Score: 4009
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.02
    Marker Score: 489
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.01
    Marker Score: 5416
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71782
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48007
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5304
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.82
    Marker Score: 1260
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.8
    Marker Score: 3336
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.77
    Marker Score: 890
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.77
    Marker Score: 248
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.75
    Marker Score: 4953
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.74
    Marker Score: 1753
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.69
    Marker Score: 327
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.68
    Marker Score: 176
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.67
    Marker Score: 2739
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.67
    Marker Score: 209
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.66
    Marker Score: 14135
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.64
    Marker Score: 702
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.63
    Marker Score: 160
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.62
    Marker Score: 1479
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.62
    Marker Score: 830
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.6
    Marker Score: 361
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.58
    Marker Score: 728
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.58
    Marker Score: 715
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.57
    Marker Score: 496
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 455
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.57
    Marker Score: 637
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.57
    Marker Score: 3416
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.56
    Marker Score: 1028
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.56
    Marker Score: 254
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.55
    Marker Score: 363
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.54
    Marker Score: 606
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.54
    Marker Score: 187
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.51
    Marker Score: 349
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.5
    Marker Score: 223
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.5
    Marker Score: 607
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.5
    Marker Score: 2076
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.48
    Marker Score: 3653
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.48
    Marker Score: 175
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.47
    Marker Score: 4776
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.46
    Marker Score: 188
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.44
    Marker Score: 569
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.43
    Marker Score: 250
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.42
    Marker Score: 178
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.41
    Marker Score: 364
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.4
    Marker Score: 428
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.4
    Marker Score: 225
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.39
    Marker Score: 240
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.39
    Marker Score: 225
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.39
    Marker Score: 669
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.38
    Marker Score: 121
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.37
    Marker Score: 1269.5
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.35
    Marker Score: 168
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.33
    Marker Score: 383
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.32
    Marker Score: 387
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.31
    Marker Score: 88
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.31
    Marker Score: 293
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.3
    Marker Score: 621
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.3
    Marker Score: 295

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Other Information

**Key characteristics** * The KCNH1 gene is located on chromosome 17q23.1. * It is a member of the potassium voltage-gated channel subfamily H. * It is a transmembrane protein with a predicted molecular weight of 145 kDa. * It is expressed in a variety of cell types, including retinal bipolar neurons, retinal cone cells, retinal rod cells, chandelier pvalb GABAergic cortical interneurons, chromaffin cells, and epithelial cells of the lung. **Pathways and functions** The KCNH1 gene is involved in a variety of cellular pathways, including: * **Calmodulin binding:** KCNH1 is a calcium-dependent potassium channel. It is activated by calcium ions, which bind to a site on the protein. * **Cellular response to calcium ion:** When calcium ions bind to KCNH1, it opens the channel, allowing potassium ions to flow out of the cell. This can lead to a variety of cellular responses, including cell death and proliferation. * **Cyclic nucleotide binding:** KCNH1 is also a cyclic nucleotide binding protein (CNBP). This means that it is regulated by cyclic nucleotides, which are second messengers. * **Delayed rectifier potassium channel activity:** KCNH1 is a delayed rectifier potassium channel. This means that it opens slowly, even in the absence of a stimulus. This can help to ensure that the channel is only activated when it is necessary. * **Myoblast fusion:** KCNH1 is also involved in the fusion of myoblasts, which are muscle cells. This process is essential for the development of muscle tissue. **Clinical significance** Mutations in the KCNH1 gene have been linked to a number of human diseases, including retinal disorders, epilepsy, and heart disease. These diseases are caused by mutations that disrupt the function of the KCNH1 gene. **Conclusion** The KCNH1 gene is a key regulator of cellular processes in a variety of cell types. Its mutations can lead to a number of human diseases, highlighting the importance of this gene in human health.

Genular Protein ID: 2258367940

Symbol: KCNH1_HUMAN

Name: Potassium voltage-gated channel subfamily H member 1

UniProtKB Accession Codes:

O95259 B1AQ26 O76035 Q14CL3

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 5 DrugCentral 1 EMBL 11 Ensembl 5 ExpressionAtlas 1 GO 19 Gene3D 4 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRINTS 2 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 2 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9738473

Title: Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.

PubMed ID: 9738473

DOI: 10.1016/s0014-5793(98)00973-9

PubMed ID: 10523298

Title: Oncogenic potential of EAG K(+) channels.

PubMed ID: 10523298

DOI: 10.1093/emboj/18.20.5540

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10880439

Title: Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin.

PubMed ID: 10880439

DOI: 10.1093/emboj/19.13.3263

PubMed ID: 11943152

Title: Functional distinction of human EAG1 and EAG2 potassium channels.

PubMed ID: 11943152

DOI: 10.1016/s0014-5793(02)02365-7

PubMed ID: 21559285

Title: Functional K(v)10.1 channels localize to the inner nuclear membrane.

PubMed ID: 21559285

DOI: 10.1371/journal.pone.0019257

PubMed ID: 22841712

Title: Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking.

PubMed ID: 22841712

DOI: 10.1016/j.febslet.2012.07.055

PubMed ID: 23144454

Title: Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1.

PubMed ID: 23144454

DOI: 10.1074/jbc.m112.372540

PubMed ID: 22732247

Title: Structural, biochemical, and functional characterization of the cyclic nucleotide binding homology domain from the mouse EAG1 potassium channel.

PubMed ID: 22732247

DOI: 10.1016/j.jmb.2012.06.025

PubMed ID: 23881642

Title: BKCa and hEag1 channels regulate cell proliferation and differentiation in human bone marrow-derived mesenchymal stem cells.

PubMed ID: 23881642

DOI: 10.1002/jcp.24435

PubMed ID: 24587194

Title: Regulation of hERG and hEAG channels by Src and by SHP-1 tyrosine phosphatase via an ITIM region in the cyclic nucleotide binding domain.

PubMed ID: 24587194

DOI: 10.1371/journal.pone.0090024

PubMed ID: 25556795

Title: KV 10.1 opposes activity-dependent increase in Ca2+ influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse.

PubMed ID: 25556795

DOI: 10.1113/jphysiol.2014.281600

PubMed ID: 25420144

Title: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

PubMed ID: 25420144

DOI: 10.1038/ng.3153

PubMed ID: 25915598

Title: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PubMed ID: 25915598

DOI: 10.1038/ng.3282

PubMed ID: 27325704

Title: Calmodulin regulates human ether a go-go 1 (hEAG1) potassium channels through interactions of the Eag domain with the cyclic nucleotide binding homology domain.

PubMed ID: 27325704

DOI: 10.1074/jbc.m116.733576

PubMed ID: 27005320

Title: Human EAG channels are directly modulated by PIP2 as revealed by electrophysiological and optical interference investigations.

PubMed ID: 27005320

DOI: 10.1038/srep23417

PubMed ID: 27618660

Title: Molecular insights into the mechanism of calmodulin inhibition of the EAG1 potassium channel.

PubMed ID: 27618660

DOI: 10.1016/j.str.2016.07.020

PubMed ID: 30149017

Title: Novel venom-derived inhibitors of the human EAG channel, a putative antiepileptic drug target.

PubMed ID: 30149017

DOI: 10.1016/j.bcp.2018.08.038

PubMed ID: 27487920

Title: Crystal structure of the PAS domain of the hEAG potassium channel.

PubMed ID: 27487920

DOI: 10.1107/s2053230x16009419

Sequence Information:

  • Length: 989
  • Mass: 111423
  • Checksum: CAA8CB251300C7E5
  • Sequence:
    • MTMAGGRRGL VAPQNTFLEN IVRRSNDTNF VLGNAQIVDW PIVYSNDGFC KLSGYHRAEV 
MQKSSTCSFM YGELTDKDTI EKVRQTFENY EMNSFEILMY KKNRTPVWFF VKIAPIRNEQ 
DKVVLFLCTF SDITAFKQPI EDDSCKGWGK FARLTRALTS SRGVLQQLAP SVQKGENVHK 
HSRLAEVLQL GSDILPQYKQ EAPKTPPHII LHYCVFKTTW DWIILILTFY TAILVPYNVS 
FKTRQNNVAW LVVDSIVDVI FLVDIVLNFH TTFVGPAGEV ISDPKLIRMN YLKTWFVIDL 
LSCLPYDVIN AFENVDEVSA FMGDPGKIGF ADQIPPPLEG RESQGISSLF SSLKVVRLLR 
LGRVARKLDH YIEYGAAVLV LLVCVFGLAA HWMACIWYSI GDYEIFDEDT KTIRNNSWLY 
QLAMDIGTPY QFNGSGSGKW EGGPSKNSVY ISSLYFTMTS LTSVGFGNIA PSTDIEKIFA 
VAIMMIGSLL YATIFGNVTT IFQQMYANTN RYHEMLNSVR DFLKLYQVPK GLSERVMDYI 
VSTWSMSRGI DTEKVLQICP KDMRADICVH LNRKVFKEHP AFRLASDGCL RALAMEFQTV 
HCAPGDLIYH AGESVDSLCF VVSGSLEVIQ DDEVVAILGK GDVFGDVFWK EATLAQSCAN 
VRALTYCDLH VIKRDALQKV LEFYTAFSHS FSRNLILTYN LRKRIVFRKI SDVKREEEER 
MKRKNEAPLI LPPDHPVRRL FQRFRQQKEA RLAAERGGRD LDDLDVEKGN VLTEHASANH 
SLVKASVVTV RESPATPVSF QAASTSGVPD HAKLQAPGSE CLGPKGGGGD CAKRKSWARF 
KDACGKSEDW NKVSKAESME TLPERTKASG EATLKKTDSC DSGITKSDLR LDNVGEARSP 
QDRSPILAEV KHSFYPIPEQ TLQATVLEVR HELKEDIKAL NAKMTNIEKQ LSEILRILTS 
RRSSQSPQEL FEISRPQSPE SERDIFGAS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.