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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.9142
    Cell Significance Index: 186.0900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.6477
    Cell Significance Index: 205.5800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 4.1783
    Cell Significance Index: 28.3100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 3.2205
    Cell Significance Index: 646.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.7621
    Cell Significance Index: 401.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.6045
    Cell Significance Index: 175.1300
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 2.3791
    Cell Significance Index: 19.2100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 2.3254
    Cell Significance Index: 31.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.9822
    Cell Significance Index: 570.3500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: 1.4191
    Cell Significance Index: 19.1500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.2207
    Cell Significance Index: 844.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.0727
    Cell Significance Index: 384.7800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.0292
    Cell Significance Index: 29.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3269
    Cell Significance Index: 20.0900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2118
    Cell Significance Index: 3.6300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.1432
    Cell Significance Index: 1.5600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1270
    Cell Significance Index: 3.5500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0991
    Cell Significance Index: 1.9900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0951
    Cell Significance Index: 2.2800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0323
    Cell Significance Index: 59.4900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0219
    Cell Significance Index: 33.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0168
    Cell Significance Index: 31.5500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0099
    Cell Significance Index: 0.2100
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0053
    Cell Significance Index: -0.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0112
    Cell Significance Index: -15.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0177
    Cell Significance Index: -11.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0336
    Cell Significance Index: -6.6600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0414
    Cell Significance Index: -30.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0435
    Cell Significance Index: -32.2500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0457
    Cell Significance Index: -34.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0479
    Cell Significance Index: -21.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0499
    Cell Significance Index: -28.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0540
    Cell Significance Index: -33.7500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0635
    Cell Significance Index: -0.9100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0637
    Cell Significance Index: -1.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0804
    Cell Significance Index: -35.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0885
    Cell Significance Index: -15.9500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1049
    Cell Significance Index: -2.1900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1236
    Cell Significance Index: -1.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1493
    Cell Significance Index: -31.4600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1592
    Cell Significance Index: -3.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1592
    Cell Significance Index: -27.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1910
    Cell Significance Index: -26.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1928
    Cell Significance Index: -23.7100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2141
    Cell Significance Index: -5.3400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2353
    Cell Significance Index: -2.2300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2538
    Cell Significance Index: -8.3100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2605
    Cell Significance Index: -27.1200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2632
    Cell Significance Index: -14.7700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2840
    Cell Significance Index: -12.3500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2876
    Cell Significance Index: -3.3600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2897
    Cell Significance Index: -33.1900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2975
    Cell Significance Index: -7.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3066
    Cell Significance Index: -31.3200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3207
    Cell Significance Index: -24.6100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3407
    Cell Significance Index: -10.8500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3875
    Cell Significance Index: -30.6900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4299
    Cell Significance Index: -15.0600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4579
    Cell Significance Index: -24.0400
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.4591
    Cell Significance Index: -5.4900
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.4689
    Cell Significance Index: -6.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5168
    Cell Significance Index: -36.5500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5197
    Cell Significance Index: -33.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5841
    Cell Significance Index: -27.4500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.5986
    Cell Significance Index: -14.5000
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6338
    Cell Significance Index: -12.4800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6491
    Cell Significance Index: -13.8800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6764
    Cell Significance Index: -24.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.7280
    Cell Significance Index: -25.5800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.8284
    Cell Significance Index: -16.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.8489
    Cell Significance Index: -39.5800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.8489
    Cell Significance Index: -44.1000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.8497
    Cell Significance Index: -9.1100
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.8509
    Cell Significance Index: -11.0400
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.8729
    Cell Significance Index: -7.5500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.8751
    Cell Significance Index: -15.1300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.8832
    Cell Significance Index: -9.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.8975
    Cell Significance Index: -25.8600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.9444
    Cell Significance Index: -29.8700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0347
    Cell Significance Index: -29.6600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -1.0367
    Cell Significance Index: -22.7000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.0401
    Cell Significance Index: -26.0000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.0409
    Cell Significance Index: -21.1800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -1.0499
    Cell Significance Index: -26.7500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.0565
    Cell Significance Index: -28.2600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.0951
    Cell Significance Index: -25.3000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0963
    Cell Significance Index: -32.2900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.1054
    Cell Significance Index: -26.9700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.1196
    Cell Significance Index: -27.9200
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -1.1375
    Cell Significance Index: -12.5500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.1748
    Cell Significance Index: -31.3700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -1.1788
    Cell Significance Index: -9.7300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.1813
    Cell Significance Index: -24.5100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -1.2069
    Cell Significance Index: -15.0500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.2250
    Cell Significance Index: -26.5400
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -1.2488
    Cell Significance Index: -8.6600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.2535
    Cell Significance Index: -32.2200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.2580
    Cell Significance Index: -33.0800
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -1.2643
    Cell Significance Index: -24.7200
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -1.2809
    Cell Significance Index: -14.0400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Gene Function:** KCNH1 encodes a voltage-gated potassium channel subunit, which is essential for regulating membrane potential in excitable cells. 2. **Expression Pattern:** The gene is widely expressed in various cell types, including neurons, erythrocytes, and epithelial cells of the lung. 3. **Channel Type:** KCNH1 forms part of the delayed rectifier potassium channel complex, which is responsible for repolarizing the membrane potential in response to depolarizing stimuli. 4. **Subunit Composition:** KCNH1 interacts with other subunits, such as KCNH2, KCNE1, and KCNE2, to form functional potassium channels. **Pathways and Functions:** 1. **Regulation of Membrane Potential:** KCNH1 plays a crucial role in regulating membrane potential by controlling the flow of potassium ions out of the cell. 2. **Neuronal Excitability:** KCNH1 is essential for regulating neuronal excitability, particularly in retinal bipolar neurons and chandelier interneurons. 3. **Cardiac Function:** KCNH1 has been implicated in cardiac function, particularly in the regulation of the action potential in cardiac myocytes. 4. **Ion Transport:** KCNH1 is involved in the transport of potassium ions across the plasma membrane, which is essential for maintaining proper cellular function. **Clinical Significance:** 1. **Neurological Disorders:** KCNH1 mutations have been implicated in several neurological disorders, including long QT syndrome, which is characterized by abnormal prolongation of the QT interval on the electrocardiogram. 2. **Cardiac Arrhythmias:** KCNH1 mutations have also been associated with cardiac arrhythmias, such as torsades de pointes and polymorphic ventricular tachycardia. 3. **Retinal Disorders:** KCNH1 mutations have been implicated in retinal disorders, including retinal degeneration and night blindness. 4. **Therapeutic Implications:** Understanding the role of KCNH1 in regulating membrane potential and cellular function has significant therapeutic implications for the treatment of neurological and cardiac disorders. In conclusion, the KCNH1 gene plays a crucial role in regulating membrane potential and cellular function, particularly in neurons and other excitable cells. Its dysregulation has been implicated in several neurological and cardiac disorders, highlighting the importance of this gene in maintaining proper cellular function. Further research on the KCNH1 gene is necessary to fully understand its role in human health and disease.

Genular Protein ID: 2258367940

Symbol: KCNH1_HUMAN

Name: Potassium voltage-gated channel subfamily H member 1

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.