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KCNH1
HPA
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  • KCNH1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

KCNH1
Synonyms eag, eag1, h-eag, hEAG, Kv10.1
Gene descriptioni

Full gene name according to HGNC.

Potassium voltage-gated channel subfamily H member 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Potential drug targets
Transporters
Voltage-gated ion channels
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband q32.2
Chromosome location (bp) 210676823 - 211134165
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

10
Ensembl ENSG00000143473 (version 109)
Entrez gene 3756
HGNC HGNC:6250
UniProt O95259 (UniProt - Evidence at protein level)
neXtProt NX_O95259
GeneCards KCNH1
Antibodypedia KCNH1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel 1, 2, 3, 4, 5, 6, 7, 8. Channel properties are modulated by subunit assembly 9. Mediates IK(NI) current in myoblasts 10. Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) 11.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Calmodulin-binding, Ion channel, Potassium channel, Voltage-gated channel
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Ion transport, Potassium transport, Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Lipid-binding, Potassium
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
KCNH1-201
ENSP00000271751
ENST00000271751
O95259
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0001964 [startle response]
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:0005634 [nucleus]
GO:0005637 [nuclear inner membrane]
GO:0005768 [endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0007520 [myoblast fusion]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008289 [lipid binding]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0030673 [axolemma]
GO:0031901 [early endosome membrane]
GO:0034220 [ion transmembrane transport]
GO:0034705 [potassium channel complex]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042127 [regulation of cell population proliferation]
GO:0042391 [regulation of membrane potential]
GO:0042734 [presynaptic membrane]
GO:0042802 [identical protein binding]
GO:0042995 [cell projection]
GO:0043025 [neuronal cell body]
GO:0043204 [perikaryon]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044325 [transmembrane transporter binding]
GO:0044877 [protein-containing complex binding]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055085 [transmembrane transport]
GO:0071277 [cellular response to calcium ion]
GO:0071805 [potassium ion transmembrane transport]
GO:0071889 [14-3-3 protein binding]
GO:0098839 [postsynaptic density membrane]
GO:1902936 [phosphatidylinositol bisphosphate binding]
Show all
989 aa
111.4 kDa
No 6
KCNH1-202
ENSP00000355974
ENST00000367007
A0A1X7SBS6
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Other congenital malformations
   DeepTMHMM predicted membrane proteins
Show all
GO:0005216 [ion channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005516 [calmodulin binding]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0016020 [membrane]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
913 aa
102.8 kDa
No 6
KCNH1-204
ENSP00000492865
ENST00000638357
A0A1W2PRZ5
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Other congenital malformations
   DeepTMHMM predicted membrane proteins
Show all
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
427 aa
48.3 kDa
No 6
KCNH1-205
ENSP00000490983
ENST00000638498
A0A1W2PNI2
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Other congenital malformations
   DeepTMHMM predicted membrane proteins
Show all
GO:0005216 [ion channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005516 [calmodulin binding]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0016020 [membrane]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
940 aa
105.7 kDa
No 6
KCNH1-207
ENSP00000492641
ENST00000638983
A0A1W2PS62
[Direct mapping] Uncharacterized protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Other congenital malformations
   DeepTMHMM predicted membrane proteins
Show all
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005516 [calmodulin binding]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
333 aa
38.3 kDa
No 3
KCNH1-209
ENSP00000492303
ENST00000639602
A0A1W2PRG6
[Direct mapping] PAS domain-containing protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Other congenital malformations
   DeepTMHMM predicted membrane proteins
Show all
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
482 aa
54.9 kDa
No 4
KCNH1-211
ENSP00000492697
ENST00000639952
O95259
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
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:0005634 [nucleus]
GO:0005637 [nuclear inner membrane]
GO:0005768 [endosome]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0007520 [myoblast fusion]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008289 [lipid binding]
GO:0016020 [membrane]
GO:0030424 [axon]
GO:0030425 [dendrite]
GO:0031901 [early endosome membrane]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042127 [regulation of cell population proliferation]
GO:0042391 [regulation of membrane potential]
GO:0042734 [presynaptic membrane]
GO:0042995 [cell projection]
GO:0043204 [perikaryon]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045202 [synapse]
GO:0045211 [postsynaptic membrane]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0055085 [transmembrane transport]
GO:0071277 [cellular response to calcium ion]
GO:0071805 [potassium ion transmembrane transport]
GO:0098839 [postsynaptic density membrane]
GO:1902936 [phosphatidylinositol bisphosphate binding]
Show all
962 aa
108.6 kDa
No 6
KCNH1-212
ENSP00000491434
ENST00000640044
A0A1W2PPA2
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Show all
GO:0005244 [voltage-gated ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0016020 [membrane]
GO:0034765 [regulation of ion transmembrane transport]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0071805 [potassium ion transmembrane transport]
Show all
605 aa
68.3 kDa
No 0
KCNH1-216
ENSP00000491302
ENST00000640566
A0A0S1TJ81
[Direct mapping] Potassium voltage-gated channel subfamily H member 1; Potassium voltage-gated channel subfamily H member 1 isoform E65
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Show all
GO:0005249 [voltage-gated potassium channel activity]
GO:0005887 [integral component of plasma membrane]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0071805 [potassium ion transmembrane transport]
Show all
454 aa
51.3 kDa
No 0
KCNH1-217
ENSP00000492609
ENST00000640625
A0A1W2PRD8
[Direct mapping] Potassium voltage-gated channel subfamily H member 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Show all
GO:0005249 [voltage-gated potassium channel activity]
GO:0005887 [integral component of plasma membrane]
GO:0071805 [potassium ion transmembrane transport]
Show all
208 aa
22.3 kDa
No 0

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